Brugada Syndrome 5; Brgda5

Description

Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by Antzelevitch et al., 2005).For a discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 (OMIM ).

Genes related to Brugada Syndrome 5; Brgda5

ABCC9
KCNE5
SCN1B
SCN2B
SCN5A
SCN3B
CACNB2
KCNJ8
SCN10A
KCND3
HCN4
CACNA2D1
CACNA1C
PKP2
CALM2
SLMAP
AKAP9
RANGRF
TRPM4
KCNE3
GPD1L

Clinical Features

Top most frequent phenotypes and symptoms related to Brugada Syndrome 5; Brgda5

Seizures
Pica
Pain
Tachycardia
Vertigo
Sudden cardiac death
Syncope
Chest pain
Palpitations
Atrioventricular block

And another 6 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available Brugada Syndrome 5; Brgda5 have a estimated prevalence of 20 per 100k worldwide.

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Brugada Syndrome 5; Brgda5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Cardiac Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6 , (...) View the complete list with 87 more genes Panel GTR000556277 complete gene list DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, A2ML1, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, ALMS1, SLC22A5, TAZ, TMEM70, MTO1, RAF1, CRYAB, DSP, GAA, ACADVL, AGL, TTR Specificity 18 % Genes 91 %
Dilated cardiomyopathy - familial variant analysis. By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario in Canada. CTF1, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, NEXN, PLN, MYH6, TNNI3, TNNC1, ACTC1, ABCC9, LAMP2, SGCD, TCAP, EMD, MYBPC3, LDB3 , (...) View the complete list with 5 more genes Panel GTR000560795 complete gene list CTF1, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, NEXN, PLN, MYH6, TNNI3, TNNC1, ACTC1, ABCC9, LAMP2, SGCD, TCAP, EMD, MYBPC3, LDB3, MYH7, DES, TTN, LMNA, TAZ Specificity 4 % Genes 5 %
Cardiomyopathy Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. TMPO, TXNRD2, OBSCN, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2 , (...) View the complete list with 92 more genes Panel GTR000528536 complete gene list TMPO, TXNRD2, OBSCN, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, SCN4B, AKAP9, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, TRPM4, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, SPRED1, LAMP2, CACNA1C, MED12, KCNQ1, KCNE1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, CBL, MAP2K2, SOS1, SHOC2, PTPN11, PLOD1, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, COL5A2, COL5A1, FXN, CBS, SURF1, COX15, TAZ, SCO2, FBN1, RAF1, CRYAB, DSP, EYA4, COL3A1, GAA, TTR Specificity 11 % Genes 58 %
Dilated Cardiomyopathy Panel (30 genes). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, NEBL, ABCC9, LAMP2, SCN5A, SGCD, TCAP , (...) View the complete list with 10 more genes Panel GTR000500930 complete gene list VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, NEBL, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, LMNA, TAZ, CRYAB Specificity 7 % Genes 10 %
DCM and DMD related Cardiomyopathy. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, NEBL, ABCC9, LAMP2, SCN5A, SGCD, TCAP , (...) View the complete list with 11 more genes Panel GTR000521335 complete gene list VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, NEBL, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, LMNA, DMD, TAZ, CRYAB Specificity 7 % Genes 10 %
ABCC9. By Institute for Human Genetics University Clinic Freiburg in Germany. ABCC9 Specificity 100 % Genes 5 %
Cardiomyopathy and Arrhythmia Panel, Sequencing (85 Genes) and Deletion/Duplication (83 Genes). By ARUP Laboratories, Molecular Genetics and Genomics in United States. MYH10, CORIN, KLHL3, TMPO, OBSCN, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1, MYPN, JUP , (...) View the complete list with 65 more genes Panel GTR000520063 complete gene list MYH10, CORIN, KLHL3, TMPO, OBSCN, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, TGFB3, MYLK2, ACTC1, ILK, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, TRPM4, LAMP2, CACNA1C, KCNQ1, KCNE1, SCN5A, SCN1B, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, SYNE1, MYBPC3, LDB3, MYOT, MYH7, DES, TTN, CAV3, FKRP, LMNA, SGCG, SGCB, SGCA, FKTN, GLA, DMD, FXN, COX15, TAZ, SCO2, SLC25A4, DSP, EYA4, GAA, TTR Specificity 15 % Genes 58 %
Comprehensive Cardiomyopathy Panel. By GeneDx in United States. MT-TL2, MT-TM, MT-TD, MT-TQ, MT-TH, MT-TI, MT-TG, TMPO, MT-ND5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1 , (...) View the complete list with 56 more genes Panel GTR000520445 complete gene list MT-TL2, MT-TM, MT-TD, MT-TQ, MT-TH, MT-TI, MT-TG, TMPO, MT-ND5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, TNNI3, TNNC1, ANKRD1, LAMA4, MYLK2, ACTC1, NEBL, ILK, PDLIM3, RYR2, PKP2, ABCC9, LAMP2, MT-TS2, MT-TS1, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, MT-ND6, MT-ND1, MT-TK, MT-TL1, LMNA, FKTN, MAP2K2, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, TAZ, RAF1, CRYAB, DSP, TTR Specificity 4 % Genes 15 %
DCMNext with TTN. By Ambry Genetics in United States. TBX20, TMPO, TXNRD2, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, ACTC1, ABCC9 , (...) View the complete list with 16 more genes Panel GTR000560529 complete gene list TBX20, TMPO, TXNRD2, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, ACTC1, ABCC9, LAMP2, SCN5A, TCAP, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, LMNA, FKTN, DMD, TAZ, RAF1, EYA4, TTR Specificity 6 % Genes 10 %
Lymphedema NGS Multi-Gene Panel (36 Genes). By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. CDK19, ITGA9, PEPD, TUBGCP6, GJA1, FLT4, PTPN14, KIF11, VEGFC, ABCC9, NAGA, SPRED1, CCBE1, SOX18, FAT4, FOXC2, HGF, RELN, GATA2, MET , (...) View the complete list with 16 more genes Panel GTR000529113 complete gene list CDK19, ITGA9, PEPD, TUBGCP6, GJA1, FLT4, PTPN14, KIF11, VEGFC, ABCC9, NAGA, SPRED1, CCBE1, SOX18, FAT4, FOXC2, HGF, RELN, GATA2, MET, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, GJC2, BRAF, PMM2, MPI, ALG8, RAF1 Specificity 3 % Genes 5 %
ABCC9. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. ABCC9 Specificity 100 % Genes 5 %
Dilated cardiomyopathy (CMD, NGS panel for 22 genes). By CGC Genetics in Portugal. VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ACTC1, ABCC9, SGCD, TCAP, MYBPC3, LDB3, MYH7, DES , (...) View the complete list with 2 more genes Panel GTR000509953 complete gene list VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ACTC1, ABCC9, SGCD, TCAP, MYBPC3, LDB3, MYH7, DES, TTN, LMNA Specificity 5 % Genes 5 %
Cardiomyopathy, dilated 1O (sequence analysis of ABCC9 gene). By CGC Genetics in Portugal. ABCC9 Specificity 100 % Genes 5 %
Cantu syndrome (sequence analysis of ABCC9 gene). By CGC Genetics in Portugal. ABCC9 Specificity 100 % Genes 5 %
Cardiomyopathy and changes in cardiac conduction (NGS panel for 59 genes). By CGC Genetics in Portugal. TNNI3K, ALG10, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1 , (...) View the complete list with 39 more genes Panel GTR000525172 complete gene list TNNI3K, ALG10, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, MYLK2, ACTC1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, LAMP2, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, SGCD, TCAP, TMEM43, MYBPC3, LDB3, MYH7, DES, TTN, CAV3, LMNA, GLA, DSP Specificity 19 % Genes 53 %
Cardiomyopathy (hypertrophic, dilated and arrhythmogenic right ventricular dysplasia, NGS panel for 36 genes). By CGC Genetics in Portugal. VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, MYLK2, ACTC1 , (...) View the complete list with 16 more genes Panel GTR000525213 complete gene list VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, MYLK2, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SGCD, TCAP, TMEM43, MYBPC3, LDB3, MYH7, DES, TTN, CAV3, LMNA, GLA, DSP Specificity 6 % Genes 10 %
Familial Atrial Fibrillation Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. KCNE5, GJA5, NPPA, KCNA5, KCNE2, SCN3B, SCN2B, ABCC9, KCNQ1, KCNE1, SCN5A, SCN1B, KCNH2, KCND3, KCNJ2 Specificity 47 % Genes 34 %
Comprehensive Cardiology Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ZBTB17, SREBF2, TRIM63, ZHX3, KLF10, TBX3, CALR3, MIB1, CAVIN4, CREB3L3, APOA4, GJA5, NPPA, GPIHBP1, APOC2, LMF1, LPL, APOA5, LDLRAP1, CETP , (...) View the complete list with 144 more genes Panel GTR000553680 complete gene list ZBTB17, SREBF2, TRIM63, ZHX3, KLF10, TBX3, CALR3, MIB1, CAVIN4, CREB3L3, APOA4, GJA5, NPPA, GPIHBP1, APOC2, LMF1, LPL, APOA5, LDLRAP1, CETP, CRELD1, ZIC3, TMPO, ABCG8, ABCG5, FHL2, TBX5, SALL4, DPP6, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, ILK, PDLIM3, KCNA5, EFEMP2, LTBP2, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, TRPM4, MYH11, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, SMAD3, NOTCH1, TGFB2, NODAL, LAMP2, CACNA1C, KCNQ1, KCNE1, MYO6, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, LAMA2, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, MYBPC3, RYR1, SELENON, FHL1, BAG3, LDB3, MYH7, DES, TTN, CAV3, FKRP, APOE, LMNA, HSPB8, SGCG, FKTN, PRKAR1A, SMAD4, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, LDLR, KRAS, HRAS, GLA, DMD, BRAF, DOLK, COL5A2, ALMS1, CBS, COX15, TAZ, SCO2, DNAJC19, GCKR, FBN1, RAF1, HADHA, CRYAB, SLC25A4, DSP, JAG1, EYA4, ELN, COL3A1, GAA, TTR, HFE Specificity 11 % Genes 81 %
Cantu Syndrome via the ABCC9 Gene. By PreventionGenetics PreventionGenetics in United States. ABCC9 Specificity 100 % Genes 5 %
Brugada syndrome and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. KCND2, KCNE5, SCN10A, FGF12, SEMA3A, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, CACNA1C, CACNA2D1, SCN5A, HCN4 , (...) View the complete list with 6 more genes Panel GTR000559005 complete gene list KCND2, KCNE5, SCN10A, FGF12, SEMA3A, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, CACNA1C, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, CAV3, GLA, GAA Specificity 70 % Genes 86 %
Brugada syndrome and related disorders NGS panel. By Connective Tissue Gene Tests in United States. KCND2, KCNE5, SCN10A, FGF12, SEMA3A, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, CACNA1C, CACNA2D1, SCN5A, HCN4 , (...) View the complete list with 6 more genes Panel GTR000559015 complete gene list KCND2, KCNE5, SCN10A, FGF12, SEMA3A, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, CACNA1C, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, CAV3, GLA, GAA Specificity 70 % Genes 86 %
Cardiac channelopathy Deletion/ Duplication panel. By Connective Tissue Gene Tests in United States. TECRL, KCND2, CALM3, KCNE5, SCN10A, FGF12, SEMA3A, NOS1AP, RANGRF, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2 , (...) View the complete list with 21 more genes Panel GTR000559020 complete gene list TECRL, KCND2, CALM3, KCNE5, SCN10A, FGF12, SEMA3A, NOS1AP, RANGRF, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3 Specificity 52 % Genes 100 %
Brugada syndrome and related disorders Comprehensive panel. By Connective Tissue Gene Tests in United States. KCND2, KCNE5, SCN10A, FGF12, SEMA3A, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, CACNA1C, CACNA2D1, SCN5A, HCN4 , (...) View the complete list with 6 more genes Panel GTR000559022 complete gene list KCND2, KCNE5, SCN10A, FGF12, SEMA3A, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, CACNA1C, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, CAV3, GLA, GAA Specificity 70 % Genes 86 %
Cardiac channelopathy Comprehensive panel. By Connective Tissue Gene Tests in United States. TECRL, KCND2, CALM3, KCNE5, SCN10A, FGF12, SEMA3A, NOS1AP, RANGRF, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2 , (...) View the complete list with 21 more genes Panel GTR000559035 complete gene list TECRL, KCND2, CALM3, KCNE5, SCN10A, FGF12, SEMA3A, NOS1AP, RANGRF, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3 Specificity 52 % Genes 100 %
Cantu syndrome Deletion/ Duplication panel. By Connective Tissue Gene Tests in United States. ABCC9, KCNJ8 Specificity 100 % Genes 10 %
Cantu syndrome NGS panel. By Connective Tissue Gene Tests in United States. ABCC9, KCNJ8 Specificity 100 % Genes 10 %
Mental retardation - different panels. By Institute of Human Genetics Cologne University in Germany. EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A , (...) View the complete list with 847 more genes Panel GTR000558415 complete gene list EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A, WAC, CNKSR1, HIST3H3, ASCC3, GPT2, TMEM135, RABL6, SLC25A16, HIKESHI, ZCCHC8, INPP4A, GEMIN4, FRMD4A, CASP2, CKAP2L, PECR, PGAP3, MEIS2, KDM6B, CCNA2, KRBOX4, ADRA2B, SCAPER, SLC39A6, GON4L, HIST1H4B, HNRNPK, APC2, GTF2E2, RSPRY1, SFXN4, RMND1, ITPA, SNX27, FASN, PPP2R1A, GABBR2, TCF20, TRIP12, DCPS, MYT1L, MED13L, TRIO, ELP2, ISCA2, JAM3, KDM1A, DDX59, DARS, USP27X, KLHL15, RLIM, KCNH1, CAD, NECTIN1, UPB1, UNC80, SC5D, FAR1, MFF, RNF113A, SMOC1, MAB21L2, HMGB3, CLP1, FTO, ERCC1, TMCO1, STT3A, STT3B, AIMP1, UBE3B, SSR4, GPHN, RBM28, PIGT, SLC12A5, HDAC4, COLEC11, IGF1, KAT6A, DDX3X, POGZ, PEX11B, COL4A2, DHFR, FAM126A, PEPD, CA5A, GTF2H5, MPLKIP, AP1S1, BUB1B, ZSWIM6, PIGG, CHAMP1, WDR73, SNX14, APOPT1, PET100, POLR3B, POLR3A, WDR81, XPA, PMPCA, COQ4, ERCC5, SCYL1, PTRH2, LAMA1, COL18A1, CACNA1G, ACY1, BCAP31, KMT2B, CLPB, SERAC1, SLC1A4, PPP1R15B, TBCE, TUBGCP6, ASXL3, TUBGCP4, PYCR2, POC1A, LARP7, PLK4, GMNN, ORC1, TCF12, MEGF8, DPH1, CA8, CC2D1A, ANK3, CTCF, GATAD2B, ADAT3, CRADD, FBXO31, FMN2, KIF4A, METTL23, MID2, NDST1, SETD5, SLC6A17, TAF2, TTI2, ZMYND11, CEP63, CEP135, CDK6, CENPE, MFSD2A, MED17, SLC25A1, LAMB1, MPDZ, CCDC88C, PTDSS1, PDE4D, SNAP29, ASNS, KIF2A, KIF5C, TUBG1, KATNB1, CDK5, FRAS1, DNMT3B, ESCO2, RTTN, TBC1D20, CEP83, ZNF423, ZBTB20, TRMT10A, HEPACAM, TBC1D7, RNF125, KPTN, CSPP1, PDE6D, CEP104, KIAA0556, SRCAP, AFF4, PRMT7, IFT172, AGPAT2, KCNJ6, OCLN, UBR1, MICU1, TCTN3, PGM3, PACS1, PIK3R1, EPG5, PRKRA, GSS, TPI1, LIG4, ERCC8, AKT3, PIK3R2, B3GLCT, RARB, STIM1, RAB27A, MYO5A, DHCR24, EIF2AK3, SLC6A3, DDC, EARS2, MAT1A, TMEM165, COG5, COG6, ALG11, COG4, MT-TV, COX10, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ERCC4, MASP1, AUTS2, KATNAL2, SATB2, SOX5, FANCD2, WNT1, GNAS, GNPAT, ASXL1, EFTUD2, RNASET2, EP300, THRB, DPP6, MT-CO3, MT-CO1, MT-ND5, MT-CO2, PGK1, CTDP1, KIF11, PRMT9, PPP2R5D, EXOSC2, FRY, RGS7, COL4A3BP, ADK, CCDC115, WDR45B, DIP2B, STAMBP, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, NT5C2, ENTPD1, PGAP1, IFIH1, MAG, HACE1, SMARCA2, ARID1A, SMARCB1, RRAS, RASA2, NSUN2, SPRED1, THOC2, CNKSR2, CCDC22, CLCN4, FRMPD4, EIF2S3, LAS1L, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZC4H2, USP9X, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, HCFC1, HUWE1, PHF8, CCBE1, NEU1, MVK, KAT6B, PEX5, PEX12, PEX10, PEX26, PEX13, KIAA0586, LZTR1, NLGN3, NLGN4X, CTNNB1, ARID1B, TMEM231, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, LAMC3, MED12, MID1, ADNP, PTCHD1, FUCA1, NARS2, PEX6, PRPS1, MT-TS1, SOX10, DIAPH1, NLRP3, PNPT1, ERCC3, ERCC2, ATP6V1B2, ACTG1, ACTB, SALL1, SHANK2, SHANK3, ATP2A2, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, ZNF526, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, TECR, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, NR2F1, DOCK7, SLC13A5, KCNB1, PURA, SIK1, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, SETD2, CACNA2D2, KMT2D, ATP13A2, KCNT1, HCN1, GRIN2B, SLC6A1, SLC35A2, SCN2A, ST3GAL5, KCTD7, GABRB3, ATP1A3, ATP1A2, ASPM, MCPH1, B3GALNT2, LARGE1, CHKB, POMGNT2, DPM2, LAMA2, GRM1, SIL1, ANO10, ISPD, POMT1, POMT2, DAG1, TRAPPC11, VRK1, DYNC1H1, CCDC78, SPART, KIF1A, WASHC5, BSCL2, SLC33A1, L1CAM, KCNJ11, FGFR1, NF1, GCH1, ATXN10, FKRP, AHI1, SCN1A, SPG11, MT-ATP6, MT-TK, ZFYVE26, MT-TL1, NTRK1, FIG4, TMEM216, DPYD, PHGDH, CLN5, SLC17A5, SLC12A6, POMGNT1, PEX1, MCOLN1, TH, SLC35A3, PEX7, PPT1, FKTN, CLN8, CLN6, SMAD4, GPC3, PTCH1, NBN, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, WDR62, SOS1, SLC2A1, SHOC2, RMRP, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, DMPK, MEF2C, MAP2K1, KRAS, IKBKG, IDUA, IDS, HRAS, GJC2, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, BLM, ARX, ASPA, FGFR3, PNP, MGME1, HPD, MOGS, DPAGT1, DOLK, AHCY, AGA, ABCD4, SDHA, PDHX, SLC6A8, FARS2, WWOX, PPOX, HESX1, CLN3, SMARCA4, KMT2A, SMARCE1, ARID2, ERCC6, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, GMPPB, POMK, FBXL4, EMC1, NKX2-1, SLC4A4, MAF, POC1B, MED25, AARS, DHTKD1, KDM6A, MAGEL2, ABCC9, GLI3, EZH2, NFIX, DNMT3A, ACVR1, SKI, TGFBR2, TGFBR1, DYM, NAGA, ATR, PCNT, CDK5RAP2, GLI2, CDON, CEP152, NALCN, ZIC2, TGIF1, TUBB2A, EXOSC3, MTOR, NECAP1, TPP1, SOX2, ASL, APTX, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PMM2, MGAT2, LRPPRC, GALE, GALT, CBS, L2HGDH, SLC25A15, MLYCD, MAN2B1, MANBA, DBT, CYB5R3, MUT, MMAA, NDUFAF5, NDUFS2, NDUFV1, NDUFS1, NDUFA11, NDUFA1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GUSB, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, CA2, ACOX1, SLC35C1, ALDH3A2, ALDH5A1, SUOX, ABHD5, MMADHC, ABCD1, BCOR, SLC9A6, ACSL4, MAOA, AIFM1, TIMM8A, GK, PDHA1, HCCS, PUS1, D2HGDH, ALG3, STRA6, ETHE1, MPI, ALG6, GAD1, SLC35A1, SCO2, AMT, GLDC, GCSH, B4GALT1, ALG12, COQ2, GRN, ALG2, ALG8, AP3B1, ALG1, ALG9, COG7, DPM1, MPDU1, SLC25A22, CTSD, DNAJC19, HAX1, TUSC3, DARS2, COG8, COG1, TUBA1A, MRPS22, RFT1, COQ8A, STXBP1, SDHB, AK1, GATM, GAMT, PGM1, DPM3, NUBPL, TAT, CCDC28B, ACSF3, DNM1L, ALDH18A1, DDOST, NDUFA12, ACO2, PDSS1, PDSS2, MECP2, SMPD1, FH, RAF1, PANK2, NDUFS4, DLD, SHH, TRIM32, TTC8, CEP290, MKKS, NPHP1, ARL6, TMEM67, NHS, HPRT1, OTX2, NDP, ELOVL4, OCRL, HSD17B10, SRD5A3, ATP6V0A2, PRODH, CC2D2A, PYCR1, MTRR, INPP5E, MTR, PAX6, PRKCG, MMACHC, ADSL, C12orf65, MFSD8, DNAJC5, CTSF, TUBB2B, STIL, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, DEAF1, CENPJ, ARFGEF2, COL4A1, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, MBD5, GRIN2A, GABRA1, CHD2, KCNQ3, KCNQ2, BCS1L, BCKDHB, BCKDHA, B4GALT7, AUH, ATP7A, HLCS, ANKH, PC, ACAD9, MCCC2, MCCC1, PTEN, UBE3A, FMR1 Specificity 1 % Genes 10 %
Heart Diseases - panels. By MGZ Medical Genetics Center in Germany. TLL1, NKX2-6, NR2F2, MED13L, TAB2, SMAD6, TBX20, GATA5, ADAMTSL4, ZFPM2, NOTCH2, CFC1, GATA6, CRELD1, CITED2, GATA4, GDF1, GJA1, TBX5, VCL , (...) View the complete list with 137 more genes Panel GTR000552431 complete gene list TLL1, NKX2-6, NR2F2, MED13L, TAB2, SMAD6, TBX20, GATA5, ADAMTSL4, ZFPM2, NOTCH2, CFC1, GATA6, CRELD1, CITED2, GATA4, GDF1, GJA1, TBX5, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, TGFB3, ACTC1, BMPR2, DNAH11, KDM6A, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, ABCC9, TGFBR2, TGFBR1, NOTCH1, FOXH1, NODAL, A2ML1, RRAS, RASA2, SPRED1, LAMP2, LZTR1, CACNA1C, KCNE1, TBX1, ZEB2, KMT2D, SCN5A, KCNH2, LARGE1, CHKB, KCNJ2, SGCD, TCAP, POMT1, POMT2, PLEC, EMD, SYNE2, TMEM43, SYNE1, ACTA1, MYBPC3, SELENON, FHL1, BAG3, LDB3, MYOT, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, LMNA, SGCG, POMGNT1, SGCB, SGCA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, CHD7, BRAF, KCNQ1, SDHA, SLC25A20, SLC22A5, ETFDH, ETFA, ETFB, GBE1, CPT1A, COX15, TAZ, SCO2, GFM1, PNPLA2, SLC25A3, TMEM70, AGK, MTO1, FBN1, VCP, RAF1, CRYAB, DSP, JAG1, GNE, CPT2, ELN, GAA, ACADVL, AGL, ACADS, ACADM, ACAD9, AARS2, TTR Specificity 4 % Genes 29 %
Mental Retardation and Dysmorphology - panels. By MGZ Medical Genetics Center in Germany. GATAD2B, CUL7, SPECC1L, IRF6, CCNQ, ROR2, CCND2, HEPACAM, TBC1D7, KPTN, WNT5A, SRCAP, UBR1, C2CD3, TCTN3, NOTCH2, PACS1, EPG5, ERCC8, AKT1 , (...) View the complete list with 323 more genes Panel GTR000552438 complete gene list GATAD2B, CUL7, SPECC1L, IRF6, CCNQ, ROR2, CCND2, HEPACAM, TBC1D7, KPTN, WNT5A, SRCAP, UBR1, C2CD3, TCTN3, NOTCH2, PACS1, EPG5, ERCC8, AKT1, AKT3, PIK3R2, INSR, IDH1, ALX1, GNAQ, PIK3CA, CPLANE1, KIF7, GNAS, TRIM37, CTC1, EFTUD2, EFNB1, EP300, TBX5, SALL4, ALX4, PGK1, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, SMARCE1, ERCC6, PITX1, KDM6A, MAGEL2, TP63, MITF, GPSM2, ABCC9, GLI3, RNF135, EZH2, NFIX, DNMT3A, GNPTG, ABCC6, A2ML1, RRAS, RASA2, NSUN2, SPRED1, TWIST1, POR, RAB23, THOC2, CCDC22, CLCN4, ZMYM3, EIF2S3, LAS1L, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, RASA1, PEX12, PEX10, PEX26, FAT4, LZTR1, NLGN3, NLGN4X, CTNNB1, ARID1B, CHD8, AP1S2, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, FUCA1, POLR1D, TFAP2A, PEX6, PRPS1, TCOF1, SOX10, SNAI2, EDNRB, EDNRA, PAX3, POLR1C, EDN3, ACTG1, ACTB, SALL1, GFAP, VPS13B, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, ANKRD11, DYRK1A, GRIN1, NRXN1, KANSL1, ST3GAL3, WDR45, NEXMIF, SETD2, KMT2D, SRPX2, FLNA, PQBP1, DCX, MBD5, GRIN2A, GRIN2B, EMD, MTM1, KIF1A, FHL1, WASHC5, L1CAM, MYH7, FGFR1, NFATC2IP, PLXND1, REV3L, NXF5, HERC2, WAC, STRADA, MED13L, BCL11A, DLL4, TXNL4A, LMBR1, NOG, DCHS1, DVL1, EOGT, DIS3L2, TBX3, RBPJ, DOCK6, TRPS1, KAT6A, DDX3X, FLNB, ARHGAP31, HOXD13, SF3B4, SNX14, CCDC8, OBSL1, ALX3, CC2D1A, CRBN, GRIK2, TRAPPC9, ZNF674, CDH15, C12orf57, MED23, TECR, ANK3, CACNG2, CTCF, EPB41L1, NF1, EIF2B5, SUMF1, PEX1, MCOLN1, MLC1, PEX2, GPC3, CDKN1C, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, SOS1, SHOC2, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IKBKG, IDUA, IDS, HRAS, FOXG1, DMD, DHCR7, CREBBP, CHRNA7, CHD7, CDKL5, BRAF, GBA, ARX, ASPA, FGFR3, SLC6A8, GBE1, PYGM, CBS, MAN2B1, MANBA, NDUFA1, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, PHKB, HEXB, HEXA, BCOR, SLC9A6, ACSL4, PHKA1, MAOA, AIFM1, TIMM8A, GK, PDHA1, HCCS, OTC, PHKG2, IDH2, G6PC, PYGL, PHKA2, DHODH, MECP2, SMPD1, RAF1, NHS, HPRT1, NDP, JAG1, OCRL, HSD17B10, GLB1, GNPTAB, SLC37A4, LRP5, GAA, ATP7A, AGL, RECQL4, PTEN, UBE3A, FMR1 Specificity 1 % Genes 5 %
Syndromal Diseases - panels. By MGZ Medical Genetics Center in Germany. PACS1, EPG5, ERCC8, AKT1, AKT3, PIK3R2, INSR, IDH1, ALX1, GNAQ, PIK3CA, CPLANE1, KIF7, GNAS, TRIM37, EFTUD2, EFNB1, EP300, TBX5, SALL4 , (...) View the complete list with 322 more genes Panel GTR000552442 complete gene list PACS1, EPG5, ERCC8, AKT1, AKT3, PIK3R2, INSR, IDH1, ALX1, GNAQ, PIK3CA, CPLANE1, KIF7, GNAS, TRIM37, EFTUD2, EFNB1, EP300, TBX5, SALL4, ALX4, PGK1, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, SMARCE1, ERCC6, PITX1, KDM6A, MAGEL2, TP63, MITF, GPSM2, ABCC9, GLI3, RNF135, EZH2, NFIX, DNMT3A, GNPTG, ABCC6, A2ML1, RRAS, RASA2, NSUN2, SPRED1, TWIST1, POR, RAB23, THOC2, CCDC22, CLCN4, ZMYM3, EIF2S3, LAS1L, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, RASA1, PEX12, PEX10, PEX26, FAT4, LZTR1, NLGN3, NLGN4X, CTNNB1, ARID1B, CHD8, AP1S2, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, FUCA1, POLR1D, TFAP2A, PEX6, PRPS1, TCOF1, SOX10, SNAI2, EDNRB, EDNRA, PAX3, POLR1C, EDN3, ACTG1, ACTB, SALL1, GFAP, VPS13B, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, ANKRD11, DYRK1A, GRIN1, NRXN1, KANSL1, ST3GAL3, WDR45, NEXMIF, SETD2, KMT2D, SRPX2, FLNA, PQBP1, DCX, MBD5, GRIN2A, GRIN2B, EMD, MTM1, KIF1A, FHL1, WASHC5, L1CAM, MYH7, FGFR1, NF1, EIF2B5, SUMF1, PEX1, MCOLN1, MLC1, PEX2, GPC3, CDKN1C, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, SOS1, SHOC2, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IKBKG, IDUA, IDS, HRAS, FOXG1, DMD, DHCR7, CREBBP, CHRNA7, CHD7, CDKL5, BRAF, GBA, ARX, ASPA, FGFR3, SLC6A8, GBE1, PYGM, CBS, MAN2B1, MANBA, NDUFA1, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, PHKB, HEXB, HEXA, BCOR, SLC9A6, ACSL4, PHKA1, MAOA, AIFM1, TIMM8A, GK, PDHA1, HCCS, OTC, PHKG2, IDH2, G6PC, PYGL, PHKA2, DHODH, MECP2, SMPD1, RAF1, NHS, HPRT1, NDP, JAG1, OCRL, HSD17B10, GLB1, GNPTAB, SLC37A4, LRP5, NFATC2IP, PLXND1, REV3L, NXF5, HERC2, WAC, STRADA, MED13L, BCL11A, DLL4, TXNL4A, LMBR1, NOG, DCHS1, DVL1, EOGT, DIS3L2, TBX3, RBPJ, DOCK6, TRPS1, KAT6A, DDX3X, FLNB, ARHGAP31, HOXD13, SF3B4, SNX14, CCDC8, OBSL1, ALX3, CC2D1A, CRBN, GRIK2, TRAPPC9, ZNF674, CDH15, C12orf57, MED23, TECR, ANK3, CACNG2, CTCF, EPB41L1, GATAD2B, CUL7, SPECC1L, IRF6, CCNQ, ROR2, CCND2, HEPACAM, TBC1D7, KPTN, WNT5A, SRCAP, UBR1, C2CD3, TCTN3, NOTCH2, GAA, ATP7A, AGL, RECQL4, PTEN, UBE3A, FMR1 Specificity 1 % Genes 5 %
ABCC9. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. ABCC9 Specificity 100 % Genes 5 %
Cardiomyopathy panel. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. MYOZ1, TRIM63, CALR3, TMPO, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2 , (...) View the complete list with 41 more genes Panel GTR000509411 complete gene list MYOZ1, TRIM63, CALR3, TMPO, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, MYLK2, ACTC1, NEBL, ILK, PDLIM3, CASQ2, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, MYOT, FLNC, MYH7, DES, CAV3, LMNA, FKTN, GLA, DMD, TAZ, CRYAB, DSP, EYA4, TTR Specificity 5 % Genes 15 %
Cantu syndrome. By Centogene AG - the Rare Disease Company in Germany. ABCC9 Specificity 100 % Genes 5 %
Cardio-channelopathy-gene-panel. By MVZ Dortmund Dr. Eberhard & Partner in Germany. GJA5, NPPA, GJA1, DPP6, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B , (...) View the complete list with 13 more genes Panel GTR000519702 complete gene list GJA5, NPPA, GJA1, DPP6, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, TRPM4, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3 Specificity 43 % Genes 67 %
Arrhythmia. By Asper Biogene Asper Biogene LLC in Estonia. GJA5, NPPA, DSC2, JUP, DSG2, PLN, NKX2-5, TGFB3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3 , (...) View the complete list with 18 more genes Panel GTR000558497 complete gene list GJA5, NPPA, DSC2, JUP, DSG2, PLN, NKX2-5, TGFB3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TMEM43, DES, CAV3, LMNA, DSP Specificity 37 % Genes 67 %
Dilated Cardiomyopathy. By Asper Biogene Asper Biogene LLC in Estonia. TBX20, TMPO, VCL, DSC2, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4 , (...) View the complete list with 22 more genes Panel GTR000558508 complete gene list TBX20, TMPO, VCL, DSC2, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, ACTC1, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, LMNA, DMD, TAZ, RAF1, CRYAB, DSP, EYA4, TTR Specificity 8 % Genes 15 %
J Wave Syndrome Panel. By Health in Code in Spain. KCNE5, SCN10A, ANK3, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, CACNA1D, CACNA2D1, SCN5A, HCN4 , (...) View the complete list with 3 more genes Panel GTR000521462 complete gene list KCNE5, SCN10A, ANK3, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3 Specificity 83 % Genes 91 %
Inherited Cardiovascular Diseases and Sudden Death Panel. By Health in Code in Spain. FHOD3, FOXD4, SMAD1, TRIM63, KLF10, LRP6, CALR3, MIB1, TBX20, CAVIN4, APOC3, ADAMTSL4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA , (...) View the complete list with 193 more genes Panel GTR000521465 complete gene list FHOD3, FOXD4, SMAD1, TRIM63, KLF10, LRP6, CALR3, MIB1, TBX20, CAVIN4, APOC3, ADAMTSL4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA, GATA6, APOA5, APOB, PCSK9, CETP, CRELD1, GATA4, TMPO, TXNRD2, FHL2, CTF1, GJA1, TBX5, PRKG1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, PDLIM3, BMPR2, KCNA5, SMAD9, CAV1, KCNK3, GDF2, BMPR1B, ACVRL1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, SPRED1, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA1D, TBX1, CACNA2D1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, LAMA2, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, MYOT, FLNC, MYH7, DES, TTN, CAV3, FKRP, NOTCH3, PSEN2, LMNA, CAPN3, SGCB, SGCA, FKTN, ENG, SMAD4, CBL, MAP2K2, SOS1, SHOC2, PTPN11, PLOD1, NRAS, MAP2K1, LDLR, KRAS, HRAS, GLA, DMD, BRAF, DOLK, COL5A2, COL5A1, ALMS1, PMM2, SLC22A5, COX6B1, CBS, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, COQ2, GFM1, DNAJC19, TSFM, MRPS22, FAH, TMEM70, AGK, LIAS, MRPL3, MTO1, FBN1, RAF1, CRYAB, SLC25A4, DLD, DSP, JAG1, PITX2, GLB1, GNPTAB, EYA4, ELN, PSEN1, COL3A1, COL1A2, COL1A1, GAA, ATPAF2, ACADVL, AGL, ACADM, ACAD9, AARS2, TTR, HFE Specificity 10 % Genes 100 %
Brugada Syndrome Panel. By Health in Code in Spain. KCNE5, SCN10A, ANK3, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, CACNA1D, CACNA2D1, SCN5A, HCN4 , (...) View the complete list with 3 more genes Panel GTR000521468 complete gene list KCNE5, SCN10A, ANK3, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3 Specificity 83 % Genes 91 %
Cardiomyopathies Panel. By Health in Code in Spain. FHOD3, FOXD4, TRIM63, KLF10, CALR3, MIB1, TBX20, CAVIN4, CTNNA3, OBSL1, AGPAT2, GJA5, GATA6, CRELD1, GATA4, TMPO, TXNRD2, FHL2, CTF1, GJA1 , (...) View the complete list with 129 more genes Panel GTR000521478 complete gene list FHOD3, FOXD4, TRIM63, KLF10, CALR3, MIB1, TBX20, CAVIN4, CTNNA3, OBSL1, AGPAT2, GJA5, GATA6, CRELD1, GATA4, TMPO, TXNRD2, FHL2, CTF1, GJA1, TBX5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, PDLIM3, CASQ2, RYR2, ANK2, PKP2, ABCC9, KCNJ8, MYH11, ACTA2, SMAD3, NOTCH1, SPRED1, LAMP2, KCNQ1, TBX1, FLNA, SCN5A, HCN4, KCNH2, LAMA2, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, MYOT, FLNC, MYH7, DES, TTN, CAV3, FKRP, PSEN2, LMNA, SGCB, SGCA, FKTN, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, ALMS1, PMM2, SLC22A5, COX6B1, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, COQ2, GFM1, DNAJC19, TSFM, MRPS22, FAH, TMEM70, AGK, LIAS, MRPL3, MTO1, RAF1, CRYAB, SLC25A4, DLD, DSP, JAG1, PITX2, GLB1, GNPTAB, EYA4, ELN, PSEN1, GAA, ATPAF2, ACADVL, AGL, ACAD9, AARS2, TTR, HFE Specificity 4 % Genes 24 %
Ventricular arrhythmia and sudden death without structural heart disease. By Health in Code in Spain. IRX3, KCNK17, KCND2, TNNI3K, CALM3, CAVIN4, KCNE5, SCN10A, FGF12, ANK3, GJA5, NPPA, FHL2, TBX5, NOS1AP, DSC2, TNNT2, RANGRF, JUP, DSG2 , (...) View the complete list with 57 more genes Panel GTR000530650 complete gene list IRX3, KCNK17, KCND2, TNNI3K, CALM3, CAVIN4, KCNE5, SCN10A, FGF12, ANK3, GJA5, NPPA, FHL2, TBX5, NOS1AP, DSC2, TNNT2, RANGRF, JUP, DSG2, PLN, PRKAG2, MYH6, TNNI3, TNNC1, NKX2-5, ACTC1, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, EMD, SYNE2, TMEM43, SYNE1, LDB3, FLNC, MYH7, DES, CAV3, LMNA, GLA, CAVIN1, DSP, GAA, TTR, HFE Specificity 28 % Genes 100 %
Cardiovascular Diseases_General Panel. By Health in Code in Spain. CH25H, BMP10, TRIB1, TOPBP1, ISL1, GREM2, HAND2, SLC25A40, NNT, PPARA, MYOM1, LPA, SLC22A8, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, SMAD1 , (...) View the complete list with 360 more genes Panel GTR000530651 complete gene list CH25H, BMP10, TRIB1, TOPBP1, ISL1, GREM2, HAND2, SLC25A40, NNT, PPARA, MYOM1, LPA, SLC22A8, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, SMAD1, IRX4, MCTP2, CYP3A5, NKX2-6, MRPL44, KCND2, MED13L, COA6, TRIM63, KLF10, PKP4, LRP6, INSIG2, CYP3A4, TNNI3K, TAB2, SMAD6, TFAP2B, SAR1B, MYLIP, CALM3, ASPH, CALR3, MIB1, TBX20, EIF2AK4, SLCO1B1, CAVIN4, CHRM2, PLTP, LIPC, APOC3, GATA5, ADAMTSL4, KCNE5, CTNNA3, SCN10A, COA5, FGF12, OBSL1, ANK3, ZFPM2, AGPAT2, PLIN1, CIDEC, TBC1D4, NOTCH2, GJA5, NPPA, COL7A1, TDGF1, XK, CFC1, INSR, PDGFRA, EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, BLK, KLF11, PAX4, RFX6, AKT2, SLC2A2, ABCA1, LCAT, ABCG1, ANGPTL3, GPIHBP1, APOC2, LMF1, LPL, APOA5, APOB, LDLRAP1, PCSK9, APOA1, SCARB1, CETP, ACVR2B, CRELD1, LEFTY2, CITED2, NPC1L1, IER3IP1, EVC, GATA4, GDF1, ZIC3, TMPO, TXNRD2, OBSCN, CYP2D6, ABCG8, ABCG5, B3GAT3, FHL2, GJA1, EP300, TBX5, SALL4, NOS1AP, MFAP5, PRKG1, ZMPSTE24, SPEG, TOR1AIP1, AMPD1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, BMPR2, KCNA5, EFEMP2, SMAD9, CAV1, KCNK3, GDF2, BMPR1B, ACVRL1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, ACVR1, CHST14, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FOXH1, NODAL, ABCB1, A2ML1, RRAS, RASA2, SPRED1, ZDHHC9, UPF3B, LAMP2, FOXP3, RASA1, LZTR1, CTNNB1, CACNA1C, EHMT1, FOXP1, VCL, MED12, KCNQ1, KCNE1, CACNA1D, TBX1, KANSL1, CACNA2D1, KMT2D, FLNA, SCN5A, HCN4, SCN1B, KCNH2, LAMA2, KCND3, KCNJ2, SGCD, TCAP, EMD, SYNE2, TMEM43, SYNE1, ACTA1, MYBPC3, RYR1, FHL1, BAG3, BSCL2, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, PDX1, INS, KCNJ11, CEL, NF1, CAV3, FKRP, NOTCH3, APOE, PSEN2, LMNA, CAPN3, SGCB, SGCA, MTTP, FKTN, ADAMTS2, ENG, SMAD4, BMPR1A, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, PLOD1, NRAS, MAP2K1, LIPA, LEP, LDLR, KRAS, HRAS, GLA, FOXF1, DMD, CREBBP, CHD7, BRAF, DOLK, SDHA, COL5A2, COL5A1, ZFHX3, ALMS1, PMM2, SLC22A5, COX6B1, FXN, PYGM, CBS, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, SCO2, COQ2, MEF2A, GFM1, DNAJC19, TSFM, PNPLA2, SLC25A3, MRPS22, SLC39A13, CAVIN1, IDH2, FAH, TMEM70, DNM1L, AGK, GPD1, LIAS, MRPL3, MTO1, FBN1, OPA3, RAF1, CRYAB, FOXRED1, GCK, SLC25A4, DLD, DSP, PCDH15, NPHP4, JAG1, PITX2, FOXC1, GLB1, GNPTAB, WFS1, CPT2, EYA4, ELN, HNF1B, PSEN1, ELAC2, COL3A1, COL1A2, COL1A1, PPARG, NEUROD1, HNF1A, GAA, B4GALT7, ATPAF2, ATP7A, ATP5F1E, ACADVL, AGL, ACAD9, AARS2, TTR, HNF4A, HFE Specificity 6 % Genes 100 %
Atrial fibrillation Panel. By Health in Code in Spain. GREM2, NKX2-6, TNNI3K, GATA5, KCNE5, SCN10A, GJA5, NPPA, GATA6, GATA4, GJA1, TBX5, JPH2, TNNT2, TPM1, TNNI3, NKX2-5, ACTC1, KCNA5, KCNK3 , (...) View the complete list with 23 more genes Panel GTR000530661 complete gene list GREM2, NKX2-6, TNNI3K, GATA5, KCNE5, SCN10A, GJA5, NPPA, GATA6, GATA4, GJA1, TBX5, JPH2, TNNT2, TPM1, TNNI3, NKX2-5, ACTC1, KCNA5, KCNK3, SCN4B, KCNJ5, KCNE2, RYR2, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, EMD, LMNA, ZFHX3, PITX2, TTR Specificity 28 % Genes 58 %
Arrhythmia General Panel. By Health in Code in Spain. GREM2, NNT, MYOM1, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, NKX2-6, MRPL44, KCND2, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALM3, CALR3, MIB1 , (...) View the complete list with 198 more genes Panel GTR000530668 complete gene list GREM2, NNT, MYOM1, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, NKX2-6, MRPL44, KCND2, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALM3, CALR3, MIB1, TBX20, CAVIN4, CHRM2, GATA5, KCNE5, CTNNA3, SCN10A, COA5, FGF12, OBSL1, ANK3, AGPAT2, GJA5, NPPA, COL7A1, XK, GATA6, GATA4, TMPO, TXNRD2, OBSCN, FHL2, GJA1, TBX5, NOS1AP, VCL, SPEG, TOR1AIP1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, KCNA5, KCNK3, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, MYH11, NOTCH1, A2ML1, RRAS, RASA2, SPRED1, LAMP2, LZTR1, CTNNB1, CACNA1C, KCNQ1, KCNE1, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, LAMA2, KCND3, KCNJ2, SGCD, TCAP, EMD, SYNE2, TMEM43, SYNE1, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, SCN4B, MYOT, ANO5, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, PSEN2, LMNA, CAPN3, SGCB, SGCA, FKTN, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, LDLR, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ZFHX3, ALMS1, PMM2, SLC22A5, COX6B1, FXN, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, SCO2, COQ2, GFM1, DNAJC19, TSFM, SLC25A3, MRPS22, CAVIN1, IDH2, FAH, TMEM70, DNM1L, AGK, LIAS, MRPL3, MTO1, OPA3, RAF1, CRYAB, FOXRED1, SLC25A4, DLD, DSP, PITX2, GLB1, GNPTAB, EYA4, PSEN1, ELAC2, GAA, ATPAF2, ATP5F1E, ACADVL, AGL, ACAD9, AARS2, TTR, HFE Specificity 10 % Genes 100 %
Invitae Arrhythmia Comprehensive Panel. By Invitae in United States. MYL4, CALM3, DSC2, ACTN2, RBM20, TNNT2, JUP, DSG2, PLN, PRKAG2, TNNI3, NKX2-5, KCNA5, CASQ2, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2 , (...) View the complete list with 19 more genes Panel GTR000528497 complete gene list MYL4, CALM3, DSC2, ACTN2, RBM20, TNNT2, JUP, DSG2, PLN, PRKAG2, TNNI3, NKX2-5, KCNA5, CASQ2, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, ABCC9, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, KCNH2, KCNJ2, EMD, TMEM43, FLNC, DES, TTN, CAV3, LMNA, DSP Specificity 21 % Genes 39 %
Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel. By Invitae in United States. MYL4, CALM3, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, NKX2-5, TGFB3, ACTC1 , (...) View the complete list with 47 more genes Panel GTR000528500 complete gene list MYL4, CALM3, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, NKX2-5, TGFB3, ACTC1, KCNA5, CASQ2, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, ABCC9, LAMP2, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, GLA, DMD, DOLK, SLC22A5, TAZ, RAF1, CRYAB, DSP, EYA4, GAA, AGL, TTR Specificity 12 % Genes 39 %
Invitae Dilated Cardiomyopathy Panel. By Invitae in United States. VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP , (...) View the complete list with 21 more genes Panel GTR000528521 complete gene list VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, DMD, DOLK, SLC22A5, TAZ, RAF1, CRYAB, DSP, EYA4, TTR Specificity 8 % Genes 15 %
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel. By Invitae in United States. STIM1, VCL, GMPPB, LMOD3, STAC3, POMK, TNPO3, KLHL41, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, JUP, DSG2, PLN , (...) View the complete list with 93 more genes Panel GTR000551814 complete gene list STIM1, VCL, GMPPB, LMOD3, STAC3, POMK, TNPO3, KLHL41, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, FKBP14, LAMP2, CACNA1C, SCN5A, HCN4, ITGA7, B3GALNT2, COL6A1, LARGE1, COL6A3, RXYLT1, COL6A2, CHKB, POMGNT2, DPM2, B4GAT1, LAMA2, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, EMD, TMEM43, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, MEGF10, CCDC78, ACTA1, TPM3, KLHL40, MYBPC3, RYR1, SELENON, FHL1, BAG3, ATP2A1, MATR3, TIA1, MYOT, ANO5, FLNC, MYH7, DES, TTN, DYSF, CAV3, FKRP, LMNA, DNM2, CAPN3, SGCG, POMGNT1, SGCB, SGCA, NEB, FKTN, GLA, DMD, DOLK, SLC22A5, TAZ, SQSTM1, DPM1, PNPLA2, DPM3, VCP, RAF1, CRYAB, DSP, TRIM32, GNE, CPT2, EYA4, GAA, AGL, TTR Specificity 5 % Genes 24 %
Invitae Brugada Syndrome Panel. By Invitae in United States. PKP2, GPD1L, CACNB2, ABCC9, CACNA1C, SCN5A, HCN4, KCNH2 Specificity 88 % Genes 34 %
Dilated Cardiomyopathy: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. VCL, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, PRDM16, LAMA4, ACTC1, NEBL, PDLIM3 , (...) View the complete list with 19 more genes Panel GTR000512326 complete gene list VCL, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, PRDM16, LAMA4, ACTC1, NEBL, PDLIM3, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, LMNA, FKTN, DMD, TAZ, CRYAB, DSP, TTR Specificity 6 % Genes 10 %
Cardiomyopathy: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6 , (...) View the complete list with 45 more genes Panel GTR000558613 complete gene list VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, PRDM16, LAMA4, ACTC1, NEBL, PDLIM3, CASQ2, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, MAP2K2, RIT1, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, SLC22A5, TAZ, RAF1, CRYAB, DSP, GAA, TTR Specificity 5 % Genes 15 %
Comprehensive Cardiovascular: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN , (...) View the complete list with 86 more genes Panel GTR000558799 complete gene list TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, ACTC1, NEBL, PDLIM3, BMPR2, CAV1, ACVRL1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, KCNJ8, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, LAMP2, CACNA1C, MED12, KCNQ1, KCNE1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, ENG, MAP2K2, RIT1, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, COL5A2, COL5A1, CBS, TAZ, FBN1, RAF1, CRYAB, DSP, COL3A1, GAA, TTR Specificity 13 % Genes 62 %
Dilated Cardiomyopathy: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. VCL, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, ACTC1, NEBL, ABCC9, LAMP2 , (...) View the complete list with 17 more genes Panel GTR000558819 complete gene list VCL, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, ACTC1, NEBL, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, LMNA, FKTN, DMD, TAZ, CRYAB, DSP, TTR Specificity 6 % Genes 10 %
Familial Cardiomyopathy Full Gene Sequencing Panel. By Integrated Genetics Westborough Integrated Genetics in United States. HOPX, APOA1, TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, MYH6, TNNI3, TNNC1 , (...) View the complete list with 26 more genes Panel GTR000530307 complete gene list HOPX, APOA1, TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, MYH6, TNNI3, TNNC1, TGFB3, MYLK2, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, LDB3, MYH7, DES, CAV3, LMNA, FKTN, GLA, ALMS1, TAZ, DNAJC19, DSP, EYA4, TTR Specificity 7 % Genes 15 %
Nuclear-Mito NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. CNR1, CHDH, CLYBL, NIPSNAP3A, IDE, IMMT, LETM1, MAVS, RAB11FIP5, POLRMT, PTGES2, PPARGC1A, AS3MT, ACSM3, ACSL5, DMAC2, ATP10D, NDUFB1, HK2, ECI1 , (...) View the complete list with 484 more genes Panel GTR000510915 complete gene list CNR1, CHDH, CLYBL, NIPSNAP3A, IDE, IMMT, LETM1, MAVS, RAB11FIP5, POLRMT, PTGES2, PPARGC1A, AS3MT, ACSM3, ACSL5, DMAC2, ATP10D, NDUFB1, HK2, ECI1, ECSIT, GLS, NDUFA6, HSD3B1, HSPB7, HIGD2A, GLO1, GAD2, H6PD, SHMT1, FPGS, MTHFD1L, MTHFS, MDH1, TPH2, TOMM40, ACHE, ARMS2, BCAT1, BCAT2, HSPA9, TIMM44, MTHFD1, TXN2, PARP1, COQ5, NDUFA4, FASN, CDC42BPB, DISC1, MOCOS, NDUFB9, GPX4, ABCD3, DECR1, PCK1, BCL2, NOS3, GLRA1, NTHL1, PEX11B, FTH1, SLC27A4, COA5, PMPCA, COQ4, AAAS, CLCN5, MED23, PREPL, HOGA1, TPI1, AKT1, INSR, IDH1, AKT2, HADH, DDC, EARS2, SCO1, COX10, NDUFB6, NDUFV3, NDUFA7, NDUFA8, COX4I1, MARS2, NDUFS5, MRRF, TFB1M, ACACB, IMMP2L, TXNRD2, GNAS, GNPAT, PGK1, TFAM, RSPH9, KCNE2, RYR2, ANK2, ABCC9, CLCN2, UROS, PKLR, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, NARS2, PEX6, KCNQ1, KCNE1, LARS2, SLC19A2, NRXN1, CACNA2D1, MFSD8, DNAJC5, SCN5A, CHRNA4, KCNQ3, KCNQ2, FOLR1, SCN2A, SCN1B, KCNH2, CHRNB2, TDP1, KCNA1, KCNJ2, RYR1, CACNA1S, SPART, SPAST, CLCNKB, PDX1, KCNJ11, LRRK2, CACNA1A, ATXN7, SCN4A, CLCN1, SCN1A, GDAP1, CLN5, ABCC8, PEX1, SACS, PEX7, PPT1, PEX2, CYBB, G6PD, CLN8, CLN6, SDHD, SLC2A1, DMPK, FOXG1, CDKL5, CFTR, CPT1B, MOGS, SUGCT, SDHA, PDHX, MTFMT, SLC6A8, HARS2, FARS2, TACO1, PHB, AKAP10, PNKD, CPOX, GPD2, MEN1, WWOX, OGG1, PPOX, FECH, SLC22A4, ANKRD26, CLN3, TPP1, GLRX5, SLC25A38, APTX, PRKN, SLC25A20, SLC22A5, CYP27A1, ASS1, SLC3A1, COX6B1, FASTKD2, LRPPRC, GLYCTK, FXN, GCDH, ETFDH, ETFA, ETFB, CYBA, HK1, L2HGDH, NAGS, SLC25A15, PNMT, PAK5, PACRG, NLRX1, NDUFC2, ACLY, PARL, KYNU, TSPO, FAAH, GPAM, ENO1, COX7A2, DDAH1, MAOB, BAX, MRPL48, MTCH2, AKR7A2, AGXT2, MGST3, MGLL, NPL, CKM, NIPSNAP1, USP24, TOP1MT, TST, SIRT3, SIRT1, SLC25A39, SIRT5, ALDH4A1, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, DBT, HIBCH, CYB5A, CYB5R3, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, MOCS1, MOCS2, CHAT, CPT1A, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, NME1, OAT, TCIRG1, AGXT, PAH, QDPR, PTS, PGAM2, CYP27B1, ALDH7A1, PHYH, AK2, SARDH, ALDH3A2, ALDH5A1, SUOX, MMADHC, ABCD1, ACSL4, MAOA, AIFM1, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, OTC, AGPS, PUS1, D2HGDH, RNASEL, PPARGC1B, UCP3, UCP1, ETHE1, TYMP, GAD1, SCO2, TAP1, CISD2, DMGDH, AMT, GLDC, GCSH, HMGCS2, PCCA, PCCB, GLUD1, SPG7, COQ2, UCP2, NDUFA13, UNG, ATIC, PDP1, HADHB, GFM1, SLC25A22, TK2, SECISBP2, ACADSB, CTSD, POLG2, DNAJC19, REEP1, ALDH2, HTRA2, MRPS16, TSFM, TUFM, SLC25A3, DARS2, ACAD8, RARS2, GYS1, MRPS22, CYCS, SUCLA2, SDHB, RPL35A, COX4I2, SPR, GATM, ENO3, LDHA, SLC25A12, TMEM126A, GFER, ABAT, GPI, SPTLC2, KARS, IDH2, SCP2, CYP11A1, CYP24A1, G6PC, NUBPL, NDUFA10, TAT, XPNPEP3, MTPAP, TTC19, HSD3B2, HMGCL, NDUFAF1, PCK2, NFU1, SARS2, TMEM70, ACAT2, ALDH6A1, PDHB, LDHB, DIABLO, GPX1, ACSF3, BOLA3, DGUOK, DNM1L, ALDH18A1, AGK, COX14, NDUFA9, GPD1, NDUFB3, LIAS, HARS, DHODH, IDH3B, NDUFA12, ACO2, MRPL3, COQ6, PDSS1, PDSS2, COQ9, MTO1, CYP11B2, MECP2, FH, OPA3, HADHA, PANK2, SDHC, MFN2, SLC25A13, ALAS2, KIF1B, NDUFAF2, RRM2B, FOXRED1, CYP11B1, AFG3L2, GARS, GCK, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, FOXC1, HSD17B10, PRODH, COMT, WFS1, DTNBP1, CLCN7, PYCR1, CASP8, TRMU, ABCB6, KRT5, OPA1, CPT2, CPS1, HSD17B4, AMACR, MTRR, SLC16A1, ELN, SDHAF2, ELAC2, STAR, MMACHC, ADSL, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATPAF2, ATP8B1, ATP7B, ATP5F1E, HLCS, UQCRB, UQCRQ, GYS2, PC, FBP1, YARS2, ACAT1, ACADVL, ACADS, ACADM, ACADL, ACAD9, ACACA, AARS2, MCCC2, MCCC1, TP53, MUTYH, UBE3A, HTT Specificity 1 % Genes 20 %
Arrhythmia Panel. By Blueprint Genetics in Finland. PPA2, CDH2, TECRL, MYL4, TNNI3K, CALM3, CTNNA3, SCN10A, NUP155, GATA6, DBH, TBX5, SALL4, NOS1AP, DSC2, TNNT2, JUP, DSG2, PLN, MYH6 , (...) View the complete list with 35 more genes Panel GTR000552654 complete gene list PPA2, CDH2, TECRL, MYL4, TNNI3K, CALM3, CTNNA3, SCN10A, NUP155, GATA6, DBH, TBX5, SALL4, NOS1AP, DSC2, TNNT2, JUP, DSG2, PLN, MYH6, TNNI3, NKX2-5, TGFB3, KCNA5, AKAP9, CASQ2, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, CACNB2, SCN3B, ABCC9, TRPM4, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, TMEM43, BAG3, LDB3, DES, TTN, CAV3, LMNA, HADHA, DSP Specificity 22 % Genes 58 %
Comprehensive Cardiology Panel. By Blueprint Genetics in Finland. PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, TECRL, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALM3, CALR3, ALPK3, TBX20, GATA5, RBCK1 , (...) View the complete list with 165 more genes Panel GTR000552682 complete gene list PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, TECRL, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALM3, CALR3, ALPK3, TBX20, GATA5, RBCK1, CTNNA3, SCN10A, ENPP1, NUP155, EPG5, XK, GATA6, APOA1, DBH, PPP1CB, TBX5, SALL4, NOS1AP, VCL, GMPPB, SPEG, TOR1AIP1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, NKX2-5, PRDM16, TGFB3, ACTC1, KCNA5, AKAP9, CASQ2, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, CACNB2, SCN3B, ABCC9, TRPM4, ABCC6, ACTA2, RRAS, RASA2, SPRED1, LAMP2, LZTR1, CACNA1C, KCNQ1, KCNE1, VPS13A, EEF1A2, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, LARGE1, LAMA2, KCNJ2, SMCHD1, ISPD, SGCD, TCAP, POMT1, PLEC, EMD, TMEM43, ACTA1, MYBPC3, SELENON, FHL1, BAG3, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, SCNN1B, SCNN1G, NF1, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, SGCB, SGCA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ALMS1, SLC25A20, SLC22A5, FXN, ETFDH, ETFA, ETFB, GBE1, MLYCD, GUSB, COX15, TAZ, SCO2, PCCA, PCCB, GFM1, DNAJC19, TSFM, PNPLA2, TMEM70, AGK, MTO1, VCP, RAF1, HADHA, CRYAB, NDUFAF2, FOXRED1, SLC25A4, DSP, TRIM32, GLB1, CPT2, ELAC2, GAA, ACADVL, AGL, ACAD9, AARS2, TTR, HFE Specificity 8 % Genes 62 %
Focus::MCL™ NGS Panel. By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States. SALL3, SOCS1, XPO1, TRAF2, COL16A1, DLC1, TLR2, UBR5, IKBKB, KMT2C, BIRC3, CTNNA2, CCND1, CD79B, PLCG2, KDR, NSD2, POT1, SI, PIK3CD , (...) View the complete list with 14 more genes Panel GTR000557733 complete gene list SALL3, SOCS1, XPO1, TRAF2, COL16A1, DLC1, TLR2, UBR5, IKBKB, KMT2C, BIRC3, CTNNA2, CCND1, CD79B, PLCG2, KDR, NSD2, POT1, SI, PIK3CD, MYD88, TET2, SMARCA4, ABCC9, EZH2, NOTCH1, FAT4, KMT2D, GRIN2A, BTK, CDKN2A, ATM, TP53, PTEN Specificity 3 % Genes 5 %
CANTU SYNDROME. By Bioarray in Spain. ABCC9 Specificity 100 % Genes 5 %
Dilated Cardiomyopathy Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. TMPO, FHL2, CTF1, VCL, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, ABCC9, LAMP2, SCN5A , (...) View the complete list with 12 more genes Panel GTR000522204 complete gene list TMPO, FHL2, CTF1, VCL, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, MYBPC3, FHL1, BAG3, LDB3, MYH7, DES, TTN, LMNA, TAZ Specificity 7 % Genes 10 %
Comprehensive Cardiomyopathy Panel. By ApolloGen, Inc. in United States. MT-TL2, MT-TM, MT-TD, MT-TQ, MT-TH, MT-TI, MT-TG, TMPO, VCL, MYL3, MYL2, ACTN2, RBM20, TNNT2, TPM1, MYPN, PLN, PRKAG2, MYH6, TNNI3 , (...) View the complete list with 24 more genes Panel GTR000525912 complete gene list MT-TL2, MT-TM, MT-TD, MT-TQ, MT-TH, MT-TI, MT-TG, TMPO, VCL, MYL3, MYL2, ACTN2, RBM20, TNNT2, TPM1, MYPN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, LAMA4, ACTC1, BMPR2, ABCC9, LAMP2, MT-TS2, MT-TS1, SCN5A, SGCD, TCAP, MYBPC3, LDB3, MYH7, DES, CAV3, PSEN2, MT-TK, MT-TL1, LMNA, GLA, TAZ, PSEN1, TTR Specificity 5 % Genes 10 %
Cardiac Arrhythmia Exome Panel. By Northwest Clinical Genomics Laboratory University of Washington in United States. GNAI2, GJA5, NPPA, DPP6, DSC2, RBM20, TNNT2, DSG2, PLN, PRKAG2, MYH6, NKX2-5, KCNA5, SCN4B, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2 , (...) View the complete list with 31 more genes Panel GTR000551465 complete gene list GNAI2, GJA5, NPPA, DPP6, DSC2, RBM20, TNNT2, DSG2, PLN, PRKAG2, MYH6, NKX2-5, KCNA5, SCN4B, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, TRPM4, CACNA1C, KCNQ1, KCNE1, CACNA1D, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, EMD, TMEM43, LDB3, DES, TTN, CAV3, LMNA, GLA, DSP Specificity 30 % Genes 72 %
Familial Dilated Cardiomyopathy Panel by NGS. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, PKP2, ABCC9, LAMP2 , (...) View the complete list with 15 more genes Panel GTR000556596 complete gene list VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, LMNA, DMD, TAZ, RAF1, DSP Specificity 9 % Genes 15 %
Left Ventricular Noncompaction Panel by NGS. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, PKP2, ABCC9, LAMP2 , (...) View the complete list with 15 more genes Panel GTR000556598 complete gene list VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, LMNA, DMD, TAZ, RAF1, DSP Specificity 9 % Genes 15 %
ABCC9 Gene, entire coding region or targeted variant. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. ABCC9 Specificity 100 % Genes 5 %
Hypertrichotic Osteochondrodysplasia , Sequencing ABCC9 Gene. By Reference Laboratory Genetics in Spain. ABCC9 Specificity 100 % Genes 5 %
Familial Atrial Fibrillation , Panel Massive Sequencing (NGS) 13 Genes. By Reference Laboratory Genetics in Spain. GJA5, NPPA, NUP155, KCNA5, SCN4B, KCNE2, SCN3B, SCN2B, ABCC9, KCNQ1, SCN5A, SCN1B, KCNJ2 Specificity 39 % Genes 24 %
Ventricular Arrhythmia and Sudden Cardiac Death , Panel Massive Sequencing (NGS) 48 Genes. By Reference Laboratory Genetics in Spain. CTNNA3, SCN10A, DSC2, TNNT2, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2 , (...) View the complete list with 28 more genes Panel GTR000559857 complete gene list CTNNA3, SCN10A, DSC2, TNNT2, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, TRPM4, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA1D, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TMEM43, FLNC, DES, TTN, CAV3, LMNA, DSP, ACADM Specificity 32 % Genes 72 %
Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes. By Reference Laboratory Genetics in Spain. ECE1, CTNNA3, CACNA1G, GJA5, NPPA, NUP155, SLC6A4, GJA1, DPP6, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1 , (...) View the complete list with 75 more genes Panel GTR000559968 complete gene list ECE1, CTNNA3, CACNA1G, GJA5, NPPA, NUP155, SLC6A4, GJA1, DPP6, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, LAMA4, TGFB3, MYLK2, ACTC1, KCNA5, TP63, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, TRPM4, NOTCH1, LAMP2, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, HCN1, SCN1B, KCNH2, CACNA1H, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, PHOX2B, PTPN11, DMPK, DMD, TAZ, PHOX2A, DNAJC19, TSFM, SLC25A3, DNM1L, CRYAB, DSP, PITX2, EYA4, RET, TTR Specificity 15 % Genes 67 %
Phosphorus Pan Arrhythmia Panel. By Phosphorus Diagnostics LLC in United States. CALM3, SCN10A, DSC2, ACTN2, RBM20, TNNT2, JUP, DSG2, PLN, PRKAG2, TNNI3, TGFB3, SCN4B, CASQ2, SNTA1, KCNE2, TRDN, CALM2, CALM1, RYR2 , (...) View the complete list with 22 more genes Panel GTR000558335 complete gene list CALM3, SCN10A, DSC2, ACTN2, RBM20, TNNT2, JUP, DSG2, PLN, PRKAG2, TNNI3, TGFB3, SCN4B, CASQ2, SNTA1, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, ABCC9, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, KCNH2, KCNJ2, EMD, TMEM43, LDB3, DES, TTN, CAV3, LMNA, DSP Specificity 27 % Genes 53 %
Phosphorus Pan Cardiomyopathy Including Rasopathies Panel. By Phosphorus Diagnostics LLC in United States. VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9 , (...) View the complete list with 49 more genes Panel GTR000558339 complete gene list VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9, A2ML1, RRAS, SPRED1, LAMP2, RASA1, CACNA1C, SCN5A, HCN4, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, LMNA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SLC22A5, TAZ, RAF1, CRYAB, DSP, EYA4, GAA, AGL, TTR Specificity 8 % Genes 24 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel. By Phosphorus Diagnostics LLC in United States. CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B , (...) View the complete list with 67 more genes Panel GTR000558341 complete gene list CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B, CASQ2, SNTA1, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, ABCC9, A2ML1, RRAS, SPRED1, LAMP2, RASA1, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, LMNA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SLC22A5, TAZ, RAF1, CRYAB, DSP, EYA4, GAA, AGL, TTR Specificity 13 % Genes 53 %
Brugada Syndrome Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, SCN5A, HCN4, SCN1B, KCNH2, KCND3 Specificity 94 % Genes 72 %
Dilated cardiomyopathy - full panel. By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario in Canada. CTF1, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, NEXN, PLN, MYH6, TNNI3, TNNC1, ACTC1, ABCC9, LAMP2, SGCD, TCAP, EMD, MYBPC3, LDB3 , (...) View the complete list with 5 more genes Panel GTR000560794 complete gene list CTF1, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, NEXN, PLN, MYH6, TNNI3, TNNC1, ACTC1, ABCC9, LAMP2, SGCD, TCAP, EMD, MYBPC3, LDB3, MYH7, DES, TTN, LMNA, TAZ Specificity 4 % Genes 5 %
Pan-cardiomyopathy panel. By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario in Canada. FHL2, CTF1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1 , (...) View the complete list with 25 more genes Panel GTR000560802 complete gene list FHL2, CTF1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, MYLK2, ACTC1, CASQ2, RYR2, PKP2, ABCC9, LAMP2, SGCD, TCAP, EMD, TMEM43, MYBPC3, LDB3, MYH7, DES, TTN, CAV3, LMNA, GLA, TAZ, CRYAB, DSP, TTR Specificity 5 % Genes 10 %
Dilated Cardiomyopathy Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. TMPO, TXNRD2, CTF1, VCL, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, ACTC1 , (...) View the complete list with 24 more genes Panel GTR000528545 complete gene list TMPO, TXNRD2, CTF1, VCL, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, ACTC1, NEBL, ILK, PDLIM3, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, LMNA, FKTN, DMD, TAZ, RAF1, CRYAB, DSP, EYA4, TTR Specificity 5 % Genes 10 %
Comprehensive Cardiomyopathy Panel (37 genes). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. VCL, MYL3, MYL2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, NEBL, ABCC9, LAMP2 , (...) View the complete list with 17 more genes Panel GTR000505113 complete gene list VCL, MYL3, MYL2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, MYPN, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, NEBL, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, SURF1, TAZ, SCO2, CRYAB, TTR Specificity 6 % Genes 10 %
Atrial Fibrillation Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. GJA5, NPPA, NUP155, KCNA5, KCNE2, SCN3B, SCN2B, ABCC9, KCNQ1, KCNE1, SCN5A, SCN1B, KCNH2, KCND3, KCNJ2, LMNA Specificity 38 % Genes 29 %
Cardiac Channelopathy Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. RANGRF, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP , (...) View the complete list with 12 more genes Panel GTR000530643 complete gene list RANGRF, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3 Specificity 54 % Genes 81 %
DCM/Arrhythmogenic Cardiomyopathy Panel (53 Genes). By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States. CAVIN4, CHRM2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2 , (...) View the complete list with 33 more genes Panel GTR000509102 complete gene list CAVIN4, CHRM2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, PRDM16, ACTC1, NEBL, CASQ2, TRDN, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, LMNA, PTPN11, GLA, DMD, DOLK, TAZ, RAF1, CRYAB, DSP, TTR Specificity 6 % Genes 15 %
Pan Cardiomyopathy Panel (62 Genes). By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States. CAVIN4, CHRM2, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN , (...) View the complete list with 41 more genes Panel GTR000509149 complete gene list CAVIN4, CHRM2, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, PRDM16, LAMA4, MYLK2, ACTC1, NEBL, ILK, PDLIM3, CASQ2, TRDN, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, PTPN11, GLA, DMD, DOLK, TAZ, RAF1, CRYAB, DSP, TTR Specificity 5 % Genes 15 %
CardioNext with TTN. By Ambry Genetics in United States. TBX20, GATA4, TMPO, TXNRD2, TBX5, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2 , (...) View the complete list with 65 more genes Panel GTR000560510 complete gene list TBX20, GATA4, TMPO, TXNRD2, TBX5, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, TGFB3, ACTC1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, TRPM4, LAMP2, CACNA1C, KCNQ1, KCNE1, TBX1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, PTPN11, GLA, DMD, FXN, TAZ, RAF1, CRYAB, DSP, JAG1, EYA4, TTR Specificity 19 % Genes 77 %
CMNext with TTN. By Ambry Genetics in United States. TBX20, TMPO, TXNRD2, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN , (...) View the complete list with 35 more genes Panel GTR000560519 complete gene list TBX20, TMPO, TXNRD2, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SCN5A, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, LMNA, FKTN, PTPN11, GLA, DMD, FXN, TAZ, TGFB3, RAF1, CRYAB, DSP, EYA4, TTR Specificity 6 % Genes 15 %
CustomNext: Cardio. By Ambry Genetics in United States. TBX20, GATA4, TMPO, TXNRD2, TBX5, PRKG1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP , (...) View the complete list with 86 more genes Panel GTR000560528 complete gene list TBX20, GATA4, TMPO, TXNRD2, TBX5, PRKG1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, TGFB3, ACTC1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, TRPM4, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, LAMP2, CACNA1C, MED12, KCNQ1, KCNE1, TBX1, CACNA2D1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, SMAD4, PTPN11, PLOD1, GLA, DMD, COL5A2, COL5A1, FXN, CBS, TAZ, FBN1, RAF1, CRYAB, DSP, JAG1, EYA4, COL3A1, TTR Specificity 16 % Genes 77 %
Cardiac Arrhythmia NGS Multi-Gene Panel (48 genes), Sequence & CNV analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. CALM3, ASPH, KCNE5, SCN10A, GJA5, NPPA, DPP6, TNNT2, RANGRF, PLN, PRKAG2, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2 , (...) View the complete list with 27 more genes Panel GTR000511116 complete gene list CALM3, ASPH, KCNE5, SCN10A, GJA5, NPPA, DPP6, TNNT2, RANGRF, PLN, PRKAG2, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3, LMNA Specificity 45 % Genes 100 %
Sudden Cardiac Arrest Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. MYL3, MYL2, DSC2, CSRP3, ACTN2, JPH2, TNNT2, TPM1, JUP, DSG2, NEXN, MYH6, TNNI3, TNNC1, MYLK2, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1 , (...) View the complete list with 29 more genes Panel GTR000555626 complete gene list MYL3, MYL2, DSC2, CSRP3, ACTN2, JPH2, TNNT2, TPM1, JUP, DSG2, NEXN, MYH6, TNNI3, TNNC1, MYLK2, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, FBN2, TGFBR2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, MYBPC3, MYH7, DES, CAV3, LMNA, FKTN, NRAS, FBN1, DSP, EYA4, TTR Specificity 19 % Genes 43 %
Dilated Cardiomyopathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. TMPO, FHL2, VCL, DSC2, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16 , (...) View the complete list with 27 more genes Panel GTR000556120 complete gene list TMPO, FHL2, VCL, DSC2, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, ACTC1, ILK, PDLIM3, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, DMD, TAZ, RAF1, CRYAB, DSP, EYA4, TTR Specificity 7 % Genes 15 %
Pan Cardiomyopathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CALR3, MIB1, CAVIN4, TMPO, FHL2, DPP6, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN , (...) View the complete list with 62 more genes Panel GTR000556195 complete gene list CALR3, MIB1, CAVIN4, TMPO, FHL2, DPP6, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, ILK, PDLIM3, RYR2, PKP2, ABCC9, TGFBR2, LAMP2, MYO6, SCN5A, HCN4, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, MYH7, DES, TTN, CAV3, FKRP, LMNA, SGCG, FKTN, PRKAR1A, MAP2K2, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, ALMS1, TAZ, SCO2, RAF1, CRYAB, DSP, EYA4, GAA, TTR Specificity 5 % Genes 20 %
Comprehensive Cardiac Arrhythmia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. MYL4, TNNI3K, CALM3, KCNE5, SCN10A, GJA5, NPPA, DSC2, RANGRF, JUP, DSG2, PLN, PRKAG2, MYH6, TNNI3, NKX2-5, TGFB3, KCNA5, KCNK3, SCN4B , (...) View the complete list with 35 more genes Panel GTR000528354 complete gene list MYL4, TNNI3K, CALM3, KCNE5, SCN10A, GJA5, NPPA, DSC2, RANGRF, JUP, DSG2, PLN, PRKAG2, MYH6, TNNI3, NKX2-5, TGFB3, KCNA5, KCNK3, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TMEM43, LDB3, DES, CAV3, DSP Specificity 39 % Genes 100 %
Cardiac channelopathy NGS panel. By Connective Tissue Gene Tests in United States. TECRL, KCND2, CALM3, KCNE5, SCN10A, FGF12, SEMA3A, NOS1AP, RANGRF, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2 , (...) View the complete list with 21 more genes Panel GTR000559048 complete gene list TECRL, KCND2, CALM3, KCNE5, SCN10A, FGF12, SEMA3A, NOS1AP, RANGRF, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3 Specificity 52 % Genes 100 %
Cantu syndrome Comprehensive panel. By Connective Tissue Gene Tests in United States. ABCC9, KCNJ8 Specificity 100 % Genes 10 %
Cardiomyopathy, dilated type 1O. By Centogene AG - the Rare Disease Company in Germany. ABCC9 Specificity 100 % Genes 5 %
Atrial Fibrillation and Short QT Syndrome Panel. By CeGaT GmbH in Germany. GJA5, NPPA, KCNA5, SCN4B, KCNE2, CACNB2, SCN3B, SCN2B, ABCC9, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, SCN1B, KCNH2, KCNJ2 Specificity 48 % Genes 39 %
Auricular Fibrillation Panel. By Health in Code in Spain. KCNE5, SCN10A, GJA5, NPPA, GATA6, GATA4, GJA1, TBX5, JPH2, TNNT2, TPM1, TNNI3, NKX2-5, ACTC1, KCNA5, KCNK3, SCN4B, KCNJ5, KCNE2, RYR2 , (...) View the complete list with 18 more genes Panel GTR000521461 complete gene list KCNE5, SCN10A, GJA5, NPPA, GATA6, GATA4, GJA1, TBX5, JPH2, TNNT2, TPM1, TNNI3, NKX2-5, ACTC1, KCNA5, KCNK3, SCN4B, KCNJ5, KCNE2, RYR2, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, EMD, LMNA, PITX2, TTR Specificity 32 % Genes 58 %
Dilated Cardiomyopathy Panel. By Health in Code in Spain. FHOD3, FOXD4, TBX20, CAVIN4, GATA6, GATA4, TMPO, TXNRD2, FHL2, CTF1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1 , (...) View the complete list with 61 more genes Panel GTR000521471 complete gene list FHOD3, FOXD4, TBX20, CAVIN4, GATA6, GATA4, TMPO, TXNRD2, FHL2, CTF1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, ACTC1, NEBL, PDLIM3, RYR2, PKP2, ABCC9, KCNJ8, LAMP2, SCN5A, LAMA2, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, MYBPC3, BAG3, LDB3, MYOT, FLNC, MYH7, DES, TTN, CAV3, FKRP, PSEN2, LMNA, SGCB, SGCA, FKTN, PTPN11, GLA, DMD, BRAF, DOLK, ALMS1, SLC22A5, TAZ, DNAJC19, RAF1, CRYAB, DSP, GLB1, EYA4, PSEN1, GAA, TTR, HFE Specificity 5 % Genes 20 %
Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease. By Health in Code in Spain. FHOD3, TRIM63, KLF10, CALR3, CAVIN4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA, GATA6, GATA4, FHL2, CTF1, GJA1, TBX5, VCL , (...) View the complete list with 121 more genes Panel GTR000521473 complete gene list FHOD3, TRIM63, KLF10, CALR3, CAVIN4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA, GATA6, GATA4, FHL2, CTF1, GJA1, TBX5, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, TGFB3, MYLK2, ACTC1, PDLIM3, KCNA5, KCNK3, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TCAP, EMD, TMEM43, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, FLNC, MYH7, DES, TTN, CAV3, LMNA, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, BRAF, PMM2, SLC22A5, COX6B1, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, COQ2, GFM1, TSFM, MRPS22, FAH, TMEM70, AGK, LIAS, MRPL3, MTO1, RAF1, CRYAB, SLC25A4, DLD, DSP, PITX2, GLB1, GNPTAB, GAA, ATPAF2, ACADVL, AGL, ACAD9, AARS2, TTR, HFE Specificity 15 % Genes 100 %
Ventricular Arrythmia & Sudden Death Panel without Structural Heart Disease. By Health in Code in Spain. KCNE5, CTNNA3, SCN10A, ANK3, DSC2, TNNT2, RANGRF, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN , (...) View the complete list with 33 more genes Panel GTR000521477 complete gene list KCNE5, CTNNA3, SCN10A, ANK3, DSC2, TNNT2, RANGRF, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TMEM43, FLNC, DES, CAV3, LMNA, DSP, ACADM Specificity 40 % Genes 100 %
Brugada syndrome / J wave syndrome. By Health in Code in Spain. KCND2, KCNE5, SCN10A, FGF12, ANK3, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, CACNA1D, CACNA2D1 , (...) View the complete list with 5 more genes Panel GTR000530663 complete gene list KCND2, KCNE5, SCN10A, FGF12, ANK3, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3 Specificity 76 % Genes 91 %
Dilated Cardiomyopathy Panel. By Health in Code in Spain. FHOD3, CHRM2, COL7A1, FHL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, PLN, TNNI3, TNNC1, ANKRD1, ACTC1, PKP2, ABCC9, EMD, ACTA1 , (...) View the complete list with 19 more genes Panel GTR000530667 complete gene list FHOD3, CHRM2, COL7A1, FHL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, PLN, TNNI3, TNNC1, ANKRD1, ACTC1, PKP2, ABCC9, EMD, ACTA1, MYBPC3, BAG3, ANO5, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, DMD, DOLK, ALMS1, TAZ, DNAJC19, CRYAB, DSP, EYA4 Specificity 6 % Genes 10 %
Cardiomyopathies General Panel. By Health in Code in Spain. NNT, MYOM1, PPP1R13L, PERP, FHOD3, FOXD4, MRPL44, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALR3, MIB1, TBX20, CAVIN4, CHRM2, GATA5, CTNNA3, COA5 , (...) View the complete list with 153 more genes Panel GTR000530674 complete gene list NNT, MYOM1, PPP1R13L, PERP, FHOD3, FOXD4, MRPL44, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALR3, MIB1, TBX20, CAVIN4, CHRM2, GATA5, CTNNA3, COA5, OBSL1, AGPAT2, COL7A1, XK, GATA6, GATA4, TMPO, TXNRD2, OBSCN, FHL2, VCL, SPEG, TOR1AIP1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, CASQ2, RYR2, ANK2, PKP2, ABCC9, KCNJ8, NOTCH1, A2ML1, RRAS, RASA2, SPRED1, LAMP2, LZTR1, CTNNB1, KCNQ1, SCN5A, HCN4, KCNH2, LAMA2, KCNJ2, SGCD, TCAP, EMD, SYNE2, TMEM43, SYNE1, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, PSEN2, LMNA, SGCB, SGCA, FKTN, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ALMS1, PMM2, SLC22A5, COX6B1, FXN, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, SCO2, COQ2, GFM1, DNAJC19, TSFM, SLC25A3, MRPS22, IDH2, FAH, TMEM70, DNM1L, AGK, LIAS, MRPL3, MTO1, OPA3, RAF1, CRYAB, FOXRED1, SLC25A4, DLD, DSP, GLB1, GNPTAB, EYA4, PSEN1, ELAC2, GAA, ATPAF2, ATP5F1E, ACADVL, AGL, ACAD9, AARS2, TTR, HFE Specificity 3 % Genes 24 %
Invitae Cardiomyopathy Comprehensive Panel. By Invitae in United States. VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2 , (...) View the complete list with 30 more genes Panel GTR000528516 complete gene list VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2, CACNA1C, SCN5A, HCN4, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, GLA, DMD, DOLK, SLC22A5, TAZ, RAF1, CRYAB, DSP, EYA4, GAA, AGL, TTR Specificity 10 % Genes 24 %
Comprehensive Cardiovascular: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. CTNNA3, GJA5, NPPA, TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN , (...) View the complete list with 97 more genes Panel GTR000523310 complete gene list CTNNA3, GJA5, NPPA, TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, MYLK2, ACTC1, NEBL, PDLIM3, BMPR2, KCNA5, CAV1, ACVRL1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, KCNJ8, TRPM4, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, LAMP2, CACNA1C, MED12, KCNQ1, KCNE1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, ENG, MAP2K2, RIT1, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, COL5A2, COL5A1, SLC22A5, CBS, TAZ, FBN1, RAF1, CRYAB, DSP, COL3A1, GAA, TTR Specificity 13 % Genes 72 %
Cardiomyopathy: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6 , (...) View the complete list with 42 more genes Panel GTR000558598 complete gene list VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, ACTC1, NEBL, CASQ2, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, MAP2K2, RIT1, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, TAZ, RAF1, CRYAB, DSP, GAA, TTR Specificity 5 % Genes 15 %
Pan-Cardio NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. MYOM1, CALR3, CAVIN4, GJA5, NPPA, GATA4, TMPO, TXNRD2, CTF1, TBX5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2 , (...) View the complete list with 81 more genes Panel GTR000506437 complete gene list MYOM1, CALR3, CAVIN4, GJA5, NPPA, GATA4, TMPO, TXNRD2, CTF1, TBX5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, KCNJ8, LAMP2, CACNA1C, KCNQ1, KCNE1, TBX1, CACNA2D1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, SYNE1, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, PSEN2, LMNA, FKTN, PTPN11, GLA, DMD, DOLK, SDHA, FXN, COX15, TAZ, NDUFAF1, MRPL3, RAF1, CRYAB, DSP, JAG1, EYA4, GAA, TTR Specificity 13 % Genes 62 %
Atrial Fibrillation NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. GJA5, NPPA, NUP155, GATA6, GATA4, KCNA5, SCN4B, KCNJ5, KCNE2, RYR2, SCN3B, SCN2B, ABCC9, KCNJ8, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2 , (...) View the complete list with 3 more genes Panel GTR000509335 complete gene list GJA5, NPPA, NUP155, GATA6, GATA4, KCNA5, SCN4B, KCNJ5, KCNE2, RYR2, SCN3B, SCN2B, ABCC9, KCNJ8, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, LMNA Specificity 35 % Genes 39 %
Dilated Cardiomyopathy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, ACTC1, PKP2, ABCC9, LAMP2, SGCD , (...) View the complete list with 12 more genes Panel GTR000515880 complete gene list VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, ACTC1, PKP2, ABCC9, LAMP2, SGCD, TCAP, EMD, MYBPC3, LDB3, MYH7, DES, TTN, CAV3, LMNA, TAZ, CRYAB, DSP Specificity 7 % Genes 10 %
Hypertrophic Cardiomyopathy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN , (...) View the complete list with 43 more genes Panel GTR000515895 complete gene list TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, TNNI3, TNNC1, ANKRD1, LAMA4, MYLK2, ACTC1, NEBL, ILK, PDLIM3, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, MAP2K2, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, TAZ, RAF1, CRYAB, DSP, TTR Specificity 5 % Genes 15 %
ABCC9. By Fulgent Genetics Fulgent Genetics in United States. ABCC9 Specificity 100 % Genes 5 %
Cardiomyopathy Panel. By Blueprint Genetics in Finland. PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALR3, ALPK3, TBX20, RBCK1, CTNNA3, EPG5, XK , (...) View the complete list with 135 more genes Panel GTR000552712 complete gene list PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALR3, ALPK3, TBX20, RBCK1, CTNNA3, EPG5, XK, GATA6, APOA1, DBH, PPP1CB, TBX5, VCL, GMPPB, SPEG, TOR1AIP1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, TGFB3, ACTC1, CASQ2, RYR2, PKP2, ABCC9, ABCC6, RRAS, RASA2, SPRED1, LAMP2, LZTR1, VPS13A, EEF1A2, SCN5A, HCN4, LARGE1, LAMA2, SMCHD1, ISPD, SGCD, TCAP, PLEC, EMD, TMEM43, ACTA1, MYBPC3, SELENON, FHL1, BAG3, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, SCNN1B, SCNN1G, NF1, DYSF, FKRP, LMNA, CAPN3, SGCG, SGCB, SGCA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ALMS1, SLC25A20, SLC22A5, FXN, ETFDH, ETFA, ETFB, GBE1, MLYCD, GUSB, COX15, TAZ, SCO2, PCCA, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, PRDM16, PCCB, GFM1, DNAJC19, TSFM, PNPLA2, TMEM70, AGK, MTO1, VCP, RAF1, HADHA, CRYAB, NDUFAF2, FOXRED1, SLC25A4, DSP, TRIM32, GLB1, CPT2, ELAC2, GAA, ACADVL, AGL, ACAD9, AARS2, TTR, HFE Specificity 3 % Genes 20 %
Left Ventricular Non-Compaction Cardiomyopathy (LVNC) Panel. By Blueprint Genetics in Finland. PLEKHM2, FBXO32, CTNNA3, VCL, DTNA, DSC2, RBM20, JPH2, TNNT2, TPM1, JUP, DSG2, PLN, MYH6, RYR2, PKP2, ABCC9, LAMP2, SCN5A, HCN4 , (...) View the complete list with 12 more genes Panel GTR000552650 complete gene list PLEKHM2, FBXO32, CTNNA3, VCL, DTNA, DSC2, RBM20, JPH2, TNNT2, TPM1, JUP, DSG2, PLN, MYH6, RYR2, PKP2, ABCC9, LAMP2, SCN5A, HCN4, TCAP, EMD, MYBPC3, BAG3, FLNC, MYH7, DES, TTN, LMNA, DMD, RAF1, DSP Specificity 13 % Genes 20 %
Dilated Cardiomyopathy (DCM) Panel. By Blueprint Genetics in Finland. PLEKHM2, LRRC10, FBXO32, GATAD2A, MYBPHL, HAND1, FOXD4, RMND1, MYL4, TNNI3K, TAB2, ALPK3, TBX20, RBCK1, EPG5, GATA6, APOA1, TBX5, VCL, SPEG , (...) View the complete list with 50 more genes Panel GTR000552621 complete gene list PLEKHM2, LRRC10, FBXO32, GATAD2A, MYBPHL, HAND1, FOXD4, RMND1, MYL4, TNNI3K, TAB2, ALPK3, TBX20, RBCK1, EPG5, GATA6, APOA1, TBX5, VCL, SPEG, TOR1AIP1, DSC2, ACTN2, RBM20, JPH2, TNNT2, TPM1, JUP, DSG2, PLN, MYH6, TNNI3, TNNC1, PRDM16, ACTC1, PKP2, ABCC9, ABCC6, LAMP2, VPS13A, EEF1A2, SCN5A, HCN4, TCAP, EMD, ACTA1, MYBPC3, BAG3, FLNC, MYH7, DES, TTN, DYSF, LMNA, FKTN, DMD, DOLK, ALMS1, ETFDH, ETFA, ETFB, GBE1, MLYCD, TAZ, PCCA, PCCB, RAF1, DSP, GLB1, TTR Specificity 6 % Genes 20 %
Hypertrophic Cardiomyopathy (HCM) Panel. By Blueprint Genetics in Finland. ALPK3, EPG5, APOA1, MYL3, MYL2, CSRP3, ACTN2, JPH2, TNNT2, TPM1, PRKAG2, TNNI3, ACTC1, ABCC9, LAMP2, ACTA1, MYBPC3, FHL1, BAG3, FLNC , (...) View the complete list with 18 more genes Panel GTR000552625 complete gene list ALPK3, EPG5, APOA1, MYL3, MYL2, CSRP3, ACTN2, JPH2, TNNT2, TPM1, PRKAG2, TNNI3, ACTC1, ABCC9, LAMP2, ACTA1, MYBPC3, FHL1, BAG3, FLNC, MYH7, CBL, SOS1, HRAS, GLA, BRAF, FXN, COX15, AGK, RAF1, NDUFAF2, SLC25A4, ELAC2, GAA, ACADVL, AGL, ACAD9, TTR Specificity 3 % Genes 5 %
Cardiomyopathy, dilated type 1O. By Bioarray in Spain. ABCC9 Specificity 100 % Genes 5 %
CardioGene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. TMPO, FHL2, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2 , (...) View the complete list with 60 more genes Panel GTR000515873 complete gene list TMPO, FHL2, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, MYLK2, ACTC1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, KCNJ8, LAMP2, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, BRAF, TAZ, RAF1, DSP, TTR Specificity 17 % Genes 62 %
Cardiomyopathy Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. TMPO, FHL2, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2 , (...) View the complete list with 39 more genes Panel GTR000522202 complete gene list TMPO, FHL2, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, MYLK2, ACTC1, CASQ2, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, MYH7, DES, TTN, LMNA, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, BRAF, TAZ, RAF1, DSP, TTR Specificity 6 % Genes 15 %
Dilated Cardiomyopathy Panel. By ApolloGen, Inc. in United States. MT-TL2, MT-TM, MT-TQ, MT-TH, MT-TI, TMPO, VCL, ACTN2, RBM20, TNNT2, TPM1, MYPN, PLN, MYH6, TNNI3, LAMA4, ACTC1, ABCC9, MT-TS2, MT-TS1 , (...) View the complete list with 13 more genes Panel GTR000525913 complete gene list MT-TL2, MT-TM, MT-TQ, MT-TH, MT-TI, TMPO, VCL, ACTN2, RBM20, TNNT2, TPM1, MYPN, PLN, MYH6, TNNI3, LAMA4, ACTC1, ABCC9, MT-TS2, MT-TS1, SCN5A, SGCD, TCAP, MYBPC3, LDB3, MYH7, DES, PSEN2, MT-TK, MT-TL1, LMNA, TAZ, PSEN1 Specificity 7 % Genes 10 %
Cardiomyopathy Exome Panel. By Northwest Clinical Genomics Laboratory University of Washington in United States. CAVIN4, CHRM2, TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, MYPN, JUP, DSG2, NEXN , (...) View the complete list with 55 more genes Panel GTR000551457 complete gene list CAVIN4, CHRM2, TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, PRDM16, LAMA4, MYLK2, ACTC1, NEBL, ILK, PDLIM3, CASQ2, TRDN, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, PSEN2, LMNA, FKTN, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, TAZ, RAF1, CRYAB, DSP, PSEN1, GAA, TTR Specificity 4 % Genes 15 %
FAMILIAL DILATED CARDIOMYOPATHY/HYPERTROPHIC/NONCOMPACTION: NGS PANEL. By Laboratorio de Genetica Clinica SL in Spain. CALR3, MIB1, TBX20, GATA6, TBX5, VCL, DTNA, MYL3, MYL2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN , (...) View the complete list with 33 more genes Panel GTR000558288 complete gene list CALR3, MIB1, TBX20, GATA6, TBX5, VCL, DTNA, MYL3, MYL2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, PRDM16, LAMA4, MYLK2, ACTC1, ABCC9, LAMP2, SCN5A, HCN4, SGCD, TCAP, MYBPC3, BAG3, LDB3, FLNC, MYH7, DES, TTN, PSEN2, LMNA, FKTN, DMD, TAZ, MRPL3, RAF1, CRYAB, DSP, EYA4, PSEN1 Specificity 6 % Genes 15 %
Phosphorus Dilated Cardiomyopathy Including Recessive Pediatric Syndromes Panel. By Phosphorus Diagnostics LLC in United States. VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP , (...) View the complete list with 28 more genes Panel GTR000558334 complete gene list VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, DMD, DOLK, SDHA, ALMS1, SLC22A5, TAZ, DNAJC19, TMEM70, RAF1, CRYAB, DSP, CPT2, EYA4, ACADVL, TTR Specificity 7 % Genes 15 %
Phosphorus Pan Cardiomyopathy Panel. By Phosphorus Diagnostics LLC in United States. VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9 , (...) View the complete list with 32 more genes Panel GTR000558336 complete gene list VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9, LAMP2, CACNA1C, SCN5A, HCN4, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, GLA, DMD, DOLK, SLC22A5, TAZ, RAF1, CRYAB, DSP, EYA4, GAA, AGL, TTR Specificity 10 % Genes 24 %
Phosphorus Pan Cardiomyopathy Including Recessive Pediatric Syndromes Panel. By Phosphorus Diagnostics LLC in United States. VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9 , (...) View the complete list with 40 more genes Panel GTR000558337 complete gene list VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9, LAMP2, CACNA1C, SCN5A, HCN4, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, GLA, DMD, DOLK, SDHA, ALMS1, SLC22A5, TAZ, DNAJC19, TMEM70, MTO1, RAF1, CRYAB, DSP, CPT2, EYA4, ELAC2, GAA, ACADVL, AGL, TTR Specificity 9 % Genes 24 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Panel. By Phosphorus Diagnostics LLC in United States. CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B , (...) View the complete list with 50 more genes Panel GTR000558340 complete gene list CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B, CASQ2, SNTA1, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, ABCC9, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, GLA, DMD, DOLK, SLC22A5, TAZ, RAF1, CRYAB, DSP, EYA4, GAA, AGL, TTR Specificity 16 % Genes 53 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel. By Phosphorus Diagnostics LLC in United States. CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B , (...) View the complete list with 75 more genes Panel GTR000558342 complete gene list CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B, CASQ2, SNTA1, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, ABCC9, A2ML1, RRAS, SPRED1, LAMP2, RASA1, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, LMNA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ALMS1, SLC22A5, TAZ, DNAJC19, TMEM70, MTO1, RAF1, CRYAB, DSP, CPT2, EYA4, ELAC2, GAA, ACADVL, AGL, TTR Specificity 12 % Genes 53 %
Phosphorus Pan Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel. By Phosphorus Diagnostics LLC in United States. VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9 , (...) View the complete list with 57 more genes Panel GTR000558343 complete gene list VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, RYR2, PKP2, ABCC9, A2ML1, RRAS, SPRED1, LAMP2, RASA1, CACNA1C, SCN5A, HCN4, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, LMNA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ALMS1, SLC22A5, TAZ, DNAJC19, TMEM70, MTO1, RAF1, CRYAB, DSP, CPT2, EYA4, ELAC2, GAA, ACADVL, AGL, TTR Specificity 7 % Genes 24 %
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Recessive Pediatric Syndromes Panel. By Phosphorus Diagnostics LLC in United States. CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B , (...) View the complete list with 58 more genes Panel GTR000558344 complete gene list CALM3, SCN10A, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, ACTC1, SCN4B, CASQ2, SNTA1, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, ABCC9, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, GLA, DMD, DOLK, SDHA, ALMS1, SLC22A5, TAZ, DNAJC19, TMEM70, MTO1, RAF1, CRYAB, DSP, CPT2, EYA4, ELAC2, GAA, ACADVL, AGL, TTR Specificity 15 % Genes 53 %
Phosphorus Brugada Syndrome Panel. By Phosphorus Diagnostics LLC in United States. SCN10A, PKP2, GPD1L, CACNB2, KCNE3, ABCC9, CACNA1C, SCN5A, HCN4, KCNH2 Specificity 90 % Genes 43 %
Phosphorus Dilated Cardiomyopathy Panel. By Phosphorus Diagnostics LLC in United States. VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP , (...) View the complete list with 22 more genes Panel GTR000558272 complete gene list VCL, DSC2, CSRP3, ACTN2, RBM20, TNNT2, TPM1, JUP, DSG2, PLN, TNNI3, TNNC1, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, DMD, DOLK, SLC22A5, TAZ, RAF1, CRYAB, DSP, EYA4, TTR Specificity 8 % Genes 15 %
Brugada Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. KCNE5, RANGRF, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, KCNJ8, SLMAP, TRPM4, CACNA1C, CACNA2D1, SCN5A, HCN4, SCN1B, KCND3 Specificity 100 % Genes 77 %
X-Linked Intellectual Disability Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. USP27X, SYTL5, KLHL15, MAP7D3, SLC7A3, MAGEA11, RLIM, DRP2, MSL3, NONO, H2BFWT, ARSF, RNF113A, HMGB3, SSR4, DDX3X, POLA1, KCNE5, BCAP31, KIF4A , (...) View the complete list with 108 more genes Panel GTR000531556 complete gene list USP27X, SYTL5, KLHL15, MAP7D3, SLC7A3, MAGEA11, RLIM, DRP2, MSL3, NONO, H2BFWT, ARSF, RNF113A, HMGB3, SSR4, DDX3X, POLA1, KCNE5, BCAP31, KIF4A, MID2, ARSE, BCORL1, HNRNPH2, PGK1, KDM6A, THOC2, CNKSR2, CDK16, CCDC22, CLCN4, FRMPD4, ZMYM3, ZCCHC12, FAAH2, EIF2S3, LAS1L, IL1RAPL1, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZC4H2, USP9X, UPF3B, UBE2A, TSPAN7, EBP, DLG3, DKC1, ZNF711, LAMP2, MBTPS2, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, NLGN3, NLGN4X, AP1S2, MED12, MID1, PTCHD1, PRPS1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, PIGA, WDR45, NEXMIF, SRPX2, FLNA, PQBP1, DCX, ALG13, SLC35A2, L1CAM, GPC3, SMC1A, HDAC8, PLP1, PCDH19, IDS, CDKL5, ARX, SLC6A8, TMLHE, ABCD1, BCOR, SLC9A6, ACSL4, MAOA, AIFM1, GK, PDHA1, OTC, MECP2, NHS, HPRT1, NDP, HSD17B10, FMR1 Specificity 1 % Genes 5 %
AllNeuro panel. By Centogene AG - the Rare Disease Company in Germany. FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1 , (...) View the complete list with 1185 more genes Panel GTR000528053 complete gene list FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1, TNFSF4, RABGGTA, CDK11A, CNTNAP4, CR1, CD207, ACKR1, JRK, CD59, FZD9, DNAH9, VDAC1, NRG1, ELK1, NXF5, FLRT1, ADK, KCNK9, HERC2, WAC, ERBB4, NDUFA4, RBFOX3, STRADA, ARSI, USP8, WDR48, ZFR, ATP2B4, NOG, PRRX1, NECTIN1, UPB1, KANK1, ALAD, CACNA1B, YWHAE, FBXO38, TRPM7, EXOSC8, CHRM3, FTO, ZBTB16, ERCC1, SNCAIP, GIGYF2, TMCO1, MSX1, TUBA4A, WNT3, IRX5, AIMP1, EXOC8, PLEKHG4, HPSE2, PDE8B, LYZ, CIZ1, HDAC4, NOS3, TRPM6, DRD3, SLC6A5, IGF1, GLRA1, CST3, TFAP2B, GLRB, UMPS, NOP56, IFRD1, TRPS1, POGZ, PEX11B, GYG1, COL4A2, FAM126A, HOXD10, ARHGEF10, NGF, RETREG1, GDNF, ASCL1, CERS1, ARHGAP31, IL1RN, EIF4G1, WNT10A, KCNE5, DSC3, AP1S1, SCN10A, CWF19L1, CHCHD10, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, RUBCN, MAPK10, LMNB1, ITM2B, STUB1, NAT8L, ERCC5, ELOVL5, PIK3R5, NOL3, GRID2, COL18A1, ATCAY, CAMTA1, ATP2B3, ATP8A2, AAAS, ACY1, SLC30A10, ADCY5, GNAL, BCAP31, HPCA, ANO3, DNAJC6, ORC1, ALX3, CD96, CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, TECR, ANK3, CACNG2, EPB41L1, CRADD, NDST1, TAF2, TTI2, CEP63, KNL1, CEP135, ZNF335, MED17, LAMB1, MPDZ, CCDC88C, SNAP29, ASNS, PREPL, MAMLD1, ARSE, ICK, WNT7A, ROR2, DHH, ESCO2, GRIP1, DYNC2H1, ZNF423, RIN2, HEPACAM, WNT5A, CSPP1, PDE6D, PIGL, NTRK2, OCLN, NLRP12, TICAM1, TRAF3, UNC93B1, TCTN3, NOTCH2, PRKRA, RANBP2, COL7A1, DST, FADD, LPIN2, XK, NHEJ1, RBM8A, SLC4A1, AKT1, AKT3, PIK3R2, B3GLCT, ALX1, FREM1, VAX1, CD36, VIPAS39, MYO5A, FGA, A2M, GP1BA, VPS35, PTF1A, ABCA1, B9D2, APOA1, PCBD1, SLC6A3, DRD2, EARS2, FBXO7, SLC20A2, TPK1, SORL1, PRNP, TREM2, CSF1R, IL11RA, TMEM165, COG5, COG6, ALG11, COG4, SCO1, COX10, MARS2, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, EOMES, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1, VEGFA, MASP1, BDNF, DCAF17, COASY, CP, FTL, NOD2, CTC1, GNPAT, CCT5, ASXL1, EFTUD2, RNASET2, EP300, ALX4, CD320, ACE, LHX4, SLC9A9, CSF2RB, DOCK8, ACVRL1, SLC4A4, BLOC1S6, IFT140, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, KDM6A, MAGEL2, TP63, GLI3, RNF135, NFIX, ABCC6, ACTA2, SKI, TGFBR2, TGFBR1, TGFB2, HYAL1, NAGA, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, EXOSC3, VANGL1, MTOR, NEDD4L, CLCN2, NSUN2, TWIST1, MSX2, ZCCHC12, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, USP9X, UPF3B, UBE2A, TSPAN7, EBP, DLG3, DKC1, FANCB, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, HUWE1, IGBP1, PHF8, CHRNG, NEU1, FOXP3, MVK, CLCNKA, KAT6B, PEX5, TBCE, TG, TSHB, TUBGCP6, ASXL3, SEPSECS, AMPD2, RNU4ATAC, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, NLGN3, NLGN4X, CTNNB1, ARID1B, TMEM231, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, ADNP, DIAPH3, TFAP2A, PEX6, MYH9, MYH14, GJB3, CHSY1, PRPS1, SOX10, EDNRB, DNMT1, NLRP3, ERCC2, EDN3, CACNA1D, ACTG1, ACTB, SHANK2, SHANK3, HTRA1, ATP2A2, LBR, TBX1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ASAH1, ALG13, SCN5A, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, KCNT1, GRIN2B, GABRD, FOLR1, SLC6A1, SLC35A2, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, ASPM, MCPH1, COL6A1, LARGE1, COL6A3, COL6A2, POMGNT2, LAMA2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, SLC1A3, CACNB4, KCNA1, SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, FGF10, PGK1, CTDP1, KIF11, ZFYVE27, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, UCHL1, C19orf12, KIF1C, NT5C2, ENTPD1, PGAP1, MAG, REEP2, ERLIN1, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, ERCC6, CHMP1A, PIEZO2, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, GMPPB, POMK, SLC5A7, HNRNPDL, MTMR14, TNPO3, MYF6, LIMS2, COL12A1, AMPD1, PRKAG2, NKX2-1, EMD, SYNE2, SYNE1, IGHMBP2, VRK1, HSPB3, DYNC1H1, BICD2, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, CCDC78, ACTA1, TPM3, UBQLN2, PFN1, VAPB, ANG, TARDBP, CHMP2B, DCTN1, SETX, FUS, SIGMAR1, RYR1, SLC33A1, NIPA1, L1CAM, ATP2A1, KIF5A, SPAST, MATR3, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, KCNJ1, CLCNKB, BSND, LAMB2, INF2, INS, CASR, KCNJ11, FGFR1, SNCA, SGCE, LRRK2, NF1, GCH1, THAP1, TOR1A, CACNA1A, ATXN3, SCN4A, DYSF, CNBP, UBA1, CAV3, FKRP, CLCN1, NOTCH3, AHI1, C9orf72, APOE, MAPT, PSEN2, SCN1A, CSTB, SPG11, EIF2B4, EIF2B2, SMN2, EIF2B3, ZFYVE26, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, TMEM216, RAPSN, PLA2G6, EIF2B5, CLN5, CAPN3, ABCC8, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, POMGNT1, PEX1, MLC1, TH, SACS, SGCB, SGCA, PEX7, PPT1, PROP1, PEX2, NEB, FKTN, DOK7, CLN8, CLN6, CHRNE, RAD50, GPC3, MET, PHOX2B, MRE11, ATM, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, HDAC8, FGFR2, WDR62, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, SERPINI1, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, SZT2, NEXMIF, SLC13A5, TBL1XR1, SETD2, MAGI2, RBFOX1, KMT2D, PDCD10, CCM2, ATP13A2, MFSD8, DNAJC5, KRIT1, TUBB2B, SRPX2, STIL, ADGRG1, CACNA1S, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, SELENON, FHL1, BAG3, RTN2, WASHC5, BSCL2, SOS1, SMN1, SLC2A1, SHOC2, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, KRAS, IKBKG, IDUA, IDS, HRAS, GJC2, FOXG1, EIF2B1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, GBA, ELP1, ARX, ASPA, ARSA, AR, FGFR3, TSHR, HPD, MOGS, DPAGT1, DOLK, ARSB, AHCY, AGA, ABCD4, SDHA, MTFMT, SLC6A8, TMLHE, TACO1, GSN, NEFH, SOD1, PNKD, SNCB, WWOX, KIF21A, HESX1, ALMS1, CLN3, TPP1, ASL, APTX, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PRKN, PMM2, MGAT2, SLC25A20, SLC22A5, SIX6, CYP27A1, ASS1, SLC3A1, COX6B1, FASTKD2, LRPPRC, FXN, GCDH, ETFDH, ETFA, ETFB, DBT, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CHAT, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, AGXT, PAH, QDPR, PTS, PGAM2, ACOX1, ALDH7A1, SLC35C1, PHYH, LPIN1, HEXB, ALDH3A2, ALDH5A1, GM2A, HEXA, ABHD5, LMBRD1, MMADHC, ABCD1, BCOR, SLC9A6, ACSL4, PHKA1, MAOA, AIFM1, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, FRMD7, OTC, PUS1, ALG3, ETHE1, PTCH1, NBN, MPI, TYMP, ALG6, GAD1, SLC35A1, SCO2, CISD2, AMT, GLDC, GCSH, PINK1, HMGCS2, PARK7, B4GALT1, ALG12, SPG7, COQ2, GRN, ALG2, ALG8, AP3B1, ALG1, ATIC, ALG9, COG7, DPM1, HADHB, FLVCR1, GFM1, MPDU1, SLC25A22, TK2, ACADSB, CTSD, POLG2, DNAJC19, REEP1, HTRA2, TSFM, PNPLA2, SLC25A3, TUSC3, DARS2, COG8, COG1, RARS2, GYS1, TUBA1A, RFT1, COQ8A, SUCLA2, STXBP1, SPR, GATM, GAMT, ENO3, LDHA, PGM1, DPM3, SLC25A12, TMEM126A, TLR3, GFER, ABAT, SPTLC2, KARS, SCP2, NUBPL, NDUFA10, MTPAP, TTC19, CCDC28B, NDUFAF1, PCK2, NFU1, TMEM70, HPS3, HPS4, HPS5, HPS6, BLOC1S3, ACSF3, BOLA3, DGUOK, DNM1L, HPS1, ALDH18A1, AGK, NDUFA9, NDUFB3, DDOST, NDUFA12, ACO2, PDSS1, PDSS2, COQ9, MTO1, CYP11B2, MECP2, SMPD1, VCP, FH, OPA3, RAF1, HADHA, PANK2, CRYAB, MFN2, KIF1B, NDUFAF2, RRM2B, FOXRED1, AFG3L2, GARS, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, PRPH2, SHH, TRIM32, TTC8, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, TMEM67, NHS, HPRT1, NDP, ELOVL4, OCRL, HSD17B10, GNE, SRD5A3, ATP6V0A2, CC2D2A, GLB1, PSAP, WFS1, DTNBP1, KRT5, OPA1, CPT2, HSD17B4, AMACR, MTRR, INPP5E, GPR143, GBE1, PYGM, PFKM, HK1, ALDH4A1, GALC, SUCLG1, OPTN, RET, MTR, TUBB3, PSEN1, TGFB1, PAX6, AMN, APP, PRKCG, FBLN5, MMACHC, ADSL, GAA, C12orf65, TWNK, BEST1, BCS1L, BCKDHB, BCKDHA, ATPAF2, ATP7B, ATP7A, ATP5F1E, TYROBP, UQCRB, ARG1, UQCRQ, PC, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, ACACA, ABHD12, AARS2, PTEN, VHL, UBE3A, TTR, MTHFR, HFE, HTT, FMR1, F5, F2 Specificity 1 % Genes 29 %
Long QT Syndrome Extended Panel. By Health in Code in Spain. KCNE5, FHL2, KCNA5, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, CALM2, CALM1, RYR2, ANK2, KCNE3, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2 , (...) View the complete list with 3 more genes Panel GTR000521459 complete gene list KCNE5, FHL2, KCNA5, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, CALM2, CALM1, RYR2, ANK2, KCNE3, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3 Specificity 40 % Genes 43 %
KCNE5. By Fulgent Genetics Fulgent Genetics in United States. KCNE5 Specificity 100 % Genes 5 %
KCNE5. By Institute for Human Genetics University Clinic Freiburg in Germany. KCNE5 Specificity 100 % Genes 5 %
KCNE5. By Institute for Human Genetics University Clinic Freiburg in Germany. KCNE5 Specificity 100 % Genes 5 %
Long QT Syndrome Extended Panel. By Health in Code in Spain. KCND2, CALM3, KCNE5, FHL2, NOS1AP, KCNA5, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, KCNE3, CACNA1C, KCNQ1, KCNE1 , (...) View the complete list with 8 more genes Panel GTR000530467 complete gene list KCND2, CALM3, KCNE5, FHL2, NOS1AP, KCNA5, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, KCNE3, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3, CAVIN1 Specificity 33 % Genes 43 %
BRUGADA SYNDROME. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. KCNE5, RANGRF, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, TRPM4, CACNA1C, CACNA2D1, SCN5A, HCN4, SCN1B, KCND3 Specificity 100 % Genes 67 %
LONG QT SYNDROME. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. KCNE5, FHL2, NOS1AP, KCNA5, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2 , (...) View the complete list with 3 more genes Panel GTR000531437 complete gene list KCNE5, FHL2, NOS1AP, KCNA5, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3 Specificity 31 % Genes 34 %
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies. By Athena Diagnostics Inc in United States. BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, LMNB2, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A , (...) View the complete list with 64 more genes Panel GTR000559453 complete gene list BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, LMNB2, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCNH2, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ASPM, CACNB4, DYNC1H1, CASR, CACNA1A, SCN1A, CSTB, PHGDH, SLC2A1, PCDH19, CHRNA7, SLC6A8, CYP27A1, L2HGDH, NDUFA1, ALDH7A1, AMT, GLDC, ALG9, SUCLA2, GATM, GAMT, ABAT, LIAS, SLC25A19, ADSL, ALPL Specificity 4 % Genes 15 %
Epilepsy Advanced Sequencing and CNV Evaluation. By Athena Diagnostics Inc in United States. IQSEC2, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A , (...) View the complete list with 214 more genes Panel GTR000559466 complete gene list IQSEC2, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, NR2F1, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, SETD2, HNRNPU, MAGI2, CACNA2D2, RBFOX1, CACNA2D1, KMT2D, ATP13A2, MFSD8, DNAJC5, CTSF, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, DEAF1, CENPJ, ARFGEF2, COL4A1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, LMNB2, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCNH2, KCTD7, NHLRC1, ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, GOSR2, GABRB3, LGI1, CRH, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, ASPM, MCPH1, LARGE1, LAMA2, CACNB4, KCNA1, POMT1, POMT2, DYNC1H1, CASR, KCNJ11, CACNA1A, FKRP, NOTCH3, SCN1A, CSTB, DPYD, PLA2G6, PHGDH, CLN5, POMGNT1, PEX7, PPT1, FKTN, CLN8, CLN6, GPC3, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, TSC2, WDR62, SLC2A1, RAI1, PLP1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, ARX, FGFR3, SLC6A8, WWOX, CLN3, TPP1, CYP27A1, L2HGDH, NDUFA1, ALDH7A1, SLC9A6, AMT, GLDC, GRN, ALG9, SLC25A22, CTSD, TUBA1A, SUCLA2, STXBP1, GATM, GAMT, ABAT, LIAS, MECP2, PANK2, SLC25A19, POLG, SHH, ADGRV1, HPRT1, HSD17B10, ATP6V0A2, CPT2, PAX6, ADSL, ALPL, UBE3A Specificity 2 % Genes 20 %
Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy. By Athena Diagnostics Inc in United States. TREX1, ZEB2, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, PIGN, GRIN1, NRXN1, PIGA, SCN8A, WDR45, GNAO1, SZT2 , (...) View the complete list with 47 more genes Panel GTR000559467 complete gene list TREX1, ZEB2, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, PIGN, GRIN1, NRXN1, PIGA, SCN8A, WDR45, GNAO1, SZT2, DOCK7, SLC13A5, KCNB1, PURA, SIK1, DNM1, KCNA2, EEF1A2, HNRNPU, CACNA2D2, CACNA2D1, QARS, BRAT1, ALG13, GRIN2A, GABRG2, CHD2, PNPO, KCNT1, HCN1, GRIN2B, SLC35A2, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, KCNJ11, SCN1A, SYNGAP1, SLC2A1, PCDH19, FOXG1, CDKL5, ARX, WWOX, SLC9A6, AMT, GLDC, ALG9, SLC25A22, STXBP1, LIAS, MECP2, SLC25A19, ADSL, UBE3A Specificity 3 % Genes 10 %
NGS Epilepsy/Seizure Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, ABCB1, CEP152, NALCN, ZIC2, TGIF1, TUBB2A, TSEN2, TSEN34, EXOSC3, KCNAB1, VANGL1, MTOR , (...) View the complete list with 125 more genes Panel GTR000525129 complete gene list ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, ABCB1, CEP152, NALCN, ZIC2, TGIF1, TUBB2A, TSEN2, TSEN34, EXOSC3, KCNAB1, VANGL1, MTOR, NEDD4L, CLCN2, CCL2, NECAP1, ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, KANSL1, ST3GAL3, SZT2, DOCK7, SLC13A5, SNAP25, HNRNPU, MAGI2, CACNA2D1, MFSD8, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, RELN, SIX3, NDE1, QARS, EMX2, DCX, CENPJ, ARFGEF2, PRRT2, DEPDC5, TBC1D24, SCN5A, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, KCNT1, GRIN2B, GABRD, FOLR1, SLC35A2, SYNJ1, SCN2A, SCN1B, ST3GAL5, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CHRNB2, ATP1A2, ASPM, MCPH1, CACNB4, KCNA1, CASR, KCNJ11, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, PTCH1, TSC1, SYNGAP1, TSC2, WDR62, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, CLN3, TPP1, NDUFA1, ALDH7A1, SLC9A6, SLC25A22, CTSD, STXBP1, GATM, GAMT, ABAT, LIAS, MECP2, SLC25A19, POLG, SHH, ADSL, UBE3A, MTHFR Specificity 3 % Genes 15 %
Brugada Syndrome. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. GPD1L, CACNB2, KCNE3, SCN3B, TRPM4, CACNA1C, SCN5A, HCN4, SCN1B Specificity 100 % Genes 43 %
Comprehensive Arrhythmias Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, TRPM4, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B , (...) View the complete list with 3 more genes Panel GTR000552174 complete gene list SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, TRPM4, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, CAV3 Specificity 44 % Genes 48 %
Epilepsy/Seizure. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. PSPH, PCBD1, ZEB2, CASK, OPHN1, SYN1, ARHGEF9, CNTNAP2, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, WDR45, MAGI2, MFSD8, DNAJC5, ADGRG1, PAFAH1B1 , (...) View the complete list with 78 more genes Panel GTR000552213 complete gene list PSPH, PCBD1, ZEB2, CASK, OPHN1, SYN1, ARHGEF9, CNTNAP2, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, WDR45, MAGI2, MFSD8, DNAJC5, ADGRG1, PAFAH1B1, TSEN54, FLNA, DCX, PRRT2, TBC1D24, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, FOLR1, SCN2A, SCN1B, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CPA6, CHRNB2, ATP1A2, ASPM, MCPH1, CACNB4, CASR, GCH1, CACNA1A, SCN1A, CSTB, PHGDH, CLN5, PPT1, CLN8, CLN6, TSC1, TSC2, WDR62, SLC2A1, MEF2C, FOXG1, CDKL5, ARX, SLC6A8, CLN3, TPP1, QDPR, PTS, ALDH7A1, ALDH5A1, SLC9A6, AMT, GLDC, SLC25A22, CTSD, STXBP1, GATM, GAMT, ABAT, LIAS, MECP2, POLG, ADGRV1, MMACHC, ADSL, BTD, UBE3A, MTHFR Specificity 2 % Genes 5 %
Atrioventricular Block Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. NKX2-5, TRPM4, SCN5A, SCN1B, EMD, DES, LMNA Specificity 43 % Genes 15 %
Comprehensive Epilepsy Panel. By GeneDx in United States. ZEB2, ATP6AP2, SYN1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, KANSL1, MAGI2, MFSD8, DNAJC5, SRPX2, PRRT2, TBC1D24, SCARB2, MBD5, GRIN2A , (...) View the complete list with 50 more genes Panel GTR000520979 complete gene list ZEB2, ATP6AP2, SYN1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, KANSL1, MAGI2, MFSD8, DNAJC5, SRPX2, PRRT2, TBC1D24, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, GRIN2B, FOLR1, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, ATP1A2, CACNB4, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, ARX, CLN3, TPP1, ALDH7A1, SLC9A6, SLC25A22, CTSD, STXBP1, GATM, GAMT, LIAS, MECP2, POLG, ADSL, UBE3A Specificity 2 % Genes 5 %
STAT Epilepsy Panel. By GeneDx in United States. SPTAN1, SCN8A, PNPO, KCNQ3, KCNQ2, FOLR1, SCN2A, SCN1B, SCN1A, SLC2A1, PCDH19, MEF2C, CDKL5, ARX, ALDH7A1, STXBP1, MECP2, POLG Specificity 6 % Genes 5 %
Infantile Epilepsy Panel. By GeneDx in United States. ZEB2, ATP6AP2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, KANSL1, MAGI2, MFSD8, PRRT2, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, PNPO, KCNQ3 , (...) View the complete list with 33 more genes Panel GTR000520995 complete gene list ZEB2, ATP6AP2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, KANSL1, MAGI2, MFSD8, PRRT2, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, PNPO, KCNQ3, KCNQ2, GRIN2B, FOLR1, SCN2A, SCN1B, KCTD7, SCN1A, CLN5, PPT1, CLN8, CLN6, TSC1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, ARX, CLN3, TPP1, ALDH7A1, SLC9A6, SLC25A22, CTSD, STXBP1, GAMT, LIAS, MECP2, POLG, ADSL, UBE3A Specificity 2 % Genes 5 %
Brugada Syndrome Sequencing Panel. By GeneDx in United States. GPD1L, CACNB2, KCNE3, SCN3B, CACNA1C, SCN5A, SCN1B Specificity 100 % Genes 34 %
CustomNext: Neuro. By Ambry Genetics in United States. KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3 , (...) View the complete list with 176 more genes Panel GTR000560527 complete gene list KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3, RPL10, RPS6KA3, FTSJ1, GDI1, ZC4H2, UPF3B, UBE2A, DLG3, LAMP2, HUWE1, PHF8, NLGN3, NLGN4X, ARID1B, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, ADNP, PTCHD1, SHANK3, VPS13B, ZEB2, RAB39B, CUL4B, CASK, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, ANKRD11, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, SLC13A5, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, ATP13A2, MFSD8, DNAJC5, CTSF, FLNA, PQBP1, DCX, PRRT2, DEPDC5, TBC1D24, ALG13, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, CHRNB2, ATP1A2, DYNC1H1, KIF1A, L1CAM, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, GPC3, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, RAD21, TSC2, HDAC8, SLC2A1, RAI1, PTPN11, PORCN, PLP1, PCDH19, MEF2C, IDS, FOXG1, DHCR7, CREBBP, CHD7, CDKL5, ARX, SLC6A8, CLN3, TPP1, NDUFA1, ALDH7A1, ABCD1, SLC9A6, ACSL4, MAOA, TIMM8A, PDHA1, OTC, GRN, SLC25A22, CTSD, TUSC3, STXBP1, GATM, GAMT, MECP2, POLG, NHS, HPRT1, NDP, OCRL, ATP7A, PTEN, UBE3A, FMR1 Specificity 2 % Genes 10 %
Neurodevelopment-Expanded. By Ambry Genetics in United States. KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3 , (...) View the complete list with 176 more genes Panel GTR000560603 complete gene list KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3, RPL10, RPS6KA3, FTSJ1, GDI1, ZC4H2, UPF3B, UBE2A, DLG3, LAMP2, HUWE1, PHF8, NLGN3, NLGN4X, ARID1B, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, ADNP, PTCHD1, SHANK3, VPS13B, ZEB2, RAB39B, CUL4B, CASK, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, ANKRD11, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, SLC13A5, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, ATP13A2, MFSD8, DNAJC5, CTSF, FLNA, PQBP1, DCX, PRRT2, DEPDC5, TBC1D24, ALG13, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, CHRNB2, ATP1A2, DYNC1H1, KIF1A, L1CAM, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, GPC3, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, RAD21, TSC2, HDAC8, SLC2A1, RAI1, PTPN11, PORCN, PLP1, PCDH19, MEF2C, IDS, FOXG1, DHCR7, CREBBP, CHD7, CDKL5, ARX, SLC6A8, CLN3, TPP1, NDUFA1, ALDH7A1, ABCD1, SLC9A6, ACSL4, MAOA, TIMM8A, PDHA1, OTC, GRN, SLC25A22, CTSD, TUSC3, STXBP1, GATM, GAMT, MECP2, POLG, NHS, HPRT1, NDP, OCRL, ATP7A, PTEN, UBE3A, FMR1 Specificity 2 % Genes 10 %
RhythmNext. By Ambry Genetics in United States. TBX5, DSC2, JUP, DSG2, NKX2-5, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B , (...) View the complete list with 16 more genes Panel GTR000560626 complete gene list TBX5, DSC2, JUP, DSG2, NKX2-5, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, TRPM4, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TMEM43, CAV3, LMNA, DSP Specificity 39 % Genes 67 %
RhythmFirst reflex RhythmNext. By Ambry Genetics in United States. TBX5, DSC2, JUP, DSG2, NKX2-5, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B , (...) View the complete list with 16 more genes Panel GTR000560629 complete gene list TBX5, DSC2, JUP, DSG2, NKX2-5, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, TRPM4, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TMEM43, CAV3, LMNA, DSP Specificity 39 % Genes 67 %
EpiFirst-Focal. By Ambry Genetics in United States. PRRT2, DEPDC5, GRIN2A, CHRNA4, CHRNA2, KCNT1, SCN1B, LGI1, CRH, CHRNB2, SCN1A Specificity 10 % Genes 5 %
EpilepsyNext. By Ambry Genetics in United States. ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2 , (...) View the complete list with 80 more genes Panel GTR000560538 complete gene list ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, SLC13A5, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, ATP13A2, MFSD8, DNAJC5, CTSF, FLNA, DCX, PRRT2, DEPDC5, TBC1D24, SCARB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, CHRNB2, ATP1A2, DYNC1H1, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, SMC1A, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, CLN3, TPP1, ALDH7A1, SLC9A6, GRN, SLC25A22, CTSD, STXBP1, GATM, GAMT, MECP2, POLG, UBE3A Specificity 1 % Genes 5 %
EpiRapid reflex EpilepsyNext. By Ambry Genetics in United States. ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2 , (...) View the complete list with 80 more genes Panel GTR000560540 complete gene list ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, SLC13A5, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, ATP13A2, MFSD8, DNAJC5, CTSF, FLNA, DCX, PRRT2, DEPDC5, TBC1D24, SCARB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, CHRNB2, ATP1A2, DYNC1H1, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, SMC1A, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, CLN3, TPP1, ALDH7A1, SLC9A6, GRN, SLC25A22, CTSD, STXBP1, GATM, GAMT, MECP2, POLG, UBE3A Specificity 1 % Genes 5 %
MECP2, SCN1B, GABRG2, LGI1, POLG, POLG2, SLC25A22, SPTAN1, SRPX2. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SPTAN1, SRPX2, GABRG2, SCN1B, LGI1, SLC25A22, POLG2, MECP2, POLG Specificity 12 % Genes 5 %
Brugada syndrome (NGS panel for 7 genes). By CGC Genetics in Portugal. GPD1L, CACNB2, KCNE3, SCN3B, CACNA1C, SCN5A, SCN1B Specificity 100 % Genes 34 %
Generalized epilepsy with febrile seizures plus type 1 (GEFS+, sequence analysis of SCN1B gene). By CGC Genetics in Portugal. SCN1B Specificity 100 % Genes 5 %
Epileptic encephalopathy (NGS panel for 67 genes). By CGC Genetics in Portugal. SRGAP2, MAPK10, ACY1, TBCE, TREX1, ZEB2, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, GRIN1, NRXN1, SCN8A , (...) View the complete list with 47 more genes Panel GTR000525274 complete gene list SRGAP2, MAPK10, ACY1, TBCE, TREX1, ZEB2, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, GRIN1, NRXN1, SCN8A, ROGDI, ST3GAL3, GNAO1, SZT2, DOCK7, SLC13A5, KCNB1, DNM1, MAGI2, PRRT2, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, CHD2, PNPO, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SCN2A, SCN1B, SLC19A3, SCN9A, SCN1A, SYNGAP1, SLC2A1, PCDH19, FOXG1, CDKL5, ARX, WWOX, ALDH7A1, SLC9A6, AMT, GLDC, GCSH, SLC25A22, STXBP1, GAMT, MECP2, CPT2, ADSL, UBE3A, MTHFR Specificity 2 % Genes 5 %
Brugada Syndrome type 5. By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States. SCN1B Specificity 100 % Genes 5 %
Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. TNK2, NPRL2, ACY1, ARHGEF9, CNTNAP2, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ROGDI, ST3GAL3, GNAO1, SZT2, SLC13A5, KCNB1, KCNA2, MFSD8, CTSF , (...) View the complete list with 62 more genes Panel GTR000522337 complete gene list TNK2, NPRL2, ACY1, ARHGEF9, CNTNAP2, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ROGDI, ST3GAL3, GNAO1, SZT2, SLC13A5, KCNB1, KCNA2, MFSD8, CTSF, RELN, ARFGEF2, BCKDK, PIGO, PRRT2, DEPDC5, TBC1D24, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, FOLR1, SLC35A2, STX1B, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CHRNB2, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, FARS2, WWOX, CLN3, TPP1, ALDH7A1, SLC9A6, SLC25A22, CTSD, STXBP1, GAMT, MECP2, POLG, ADSL Specificity 2 % Genes 5 %
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CARS2, KCNH1, SLC1A2, PLPBP, SON, RORB, HCN2, GRIN2D, FRRS1L, CAD, NACC1, TNK2, NPRL2, NPRL3, SCN10A, PIGG, ACY1, GNB1, TUBG1, IER3IP1 , (...) View the complete list with 133 more genes Panel GTR000558846 complete gene list CARS2, KCNH1, SLC1A2, PLPBP, SON, RORB, HCN2, GRIN2D, FRRS1L, CAD, NACC1, TNK2, NPRL2, NPRL3, SCN10A, PIGG, ACY1, GNB1, TUBG1, IER3IP1, SMARCA2, AARS, TUBB2A, MTOR, NEDD4L, CLCN2, NECAP1, GFAP, ZEB2, CASK, ATP6AP2, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, PIGV, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, DNM1, KCNA2, EEF1A2, SPATA5, HNRNPU, MFSD8, CTSF, TUBB2B, SRPX2, TUBA8, RELN, QARS, DCX, ARFGEF2, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ALG13, SCARB2, KCNMA1, MBD5, LMNB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, CACNB4, CACNA1A, SCN1A, CSTB, CLN5, SLC17A5, PPT1, CLN8, CLN6, TSC1, SMC1A, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, FARS2, WWOX, CLN3, TPP1, ALDH7A1, SLC9A6, SLC25A22, CTSD, TUBA1A, STXBP1, GAMT, MECP2, POLG, TUBB3, ADSL, UBE3A Specificity 2 % Genes 10 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. DENND5A, RBFOX3, HECW2, GUF1, KPNA7, STRADA, RAB11A, NUS1, ITPA, CNTN2, SNX27, ARHGEF15, PPP3CA, PIK3AP1, JMJD1C, AP3B2, FASN, YWHAG, KCND2, RYR3 , (...) View the complete list with 202 more genes Panel GTR000561534 complete gene list DENND5A, RBFOX3, HECW2, GUF1, KPNA7, STRADA, RAB11A, NUS1, ITPA, CNTN2, SNX27, ARHGEF15, PPP3CA, PIK3AP1, JMJD1C, AP3B2, FASN, YWHAG, KCND2, RYR3, PIGP, PPP2R1A, PIGQ, GABRB1, GABBR2, GAL, CLTC, CARS2, KCNH1, PLPBP, RORB, HCN2, GRIN2D, FRRS1L, CAD, NPRL2, NPRL3, NGLY1, GPHN, SLC12A5, GLRA1, DDX3X, CERS1, PIGG, PRDM8, COQ4, FGF12, ARV1, HIVEP2, UBA5, MDH2, KCNH5, C12orf57, NTRK2, PACS1, RANBP2, TPK1, IER3IP1, SATB2, DNMT3A, NAGA, MTOR, NEDD4L, NECAP1, CLCN4, ZDHHC9, ARID1B, EHMT1, DIAPH1, ZEB2, CASK, ATP6AP2, SYN1, ARHGEF9, IQSEC2, ATRX, SERPINI1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, ANKRD11, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, SETD2, HNRNPU, CACNA2D2, RBFOX1, MFSD8, DNAJC5, SRPX2, FLNA, RELN, QARS, COL4A1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ALG13, SCN5A, SCARB2, KCNMA1, MBD5, LMNB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCNH2, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, CACNB4, KCNA1, CASR, SGCE, NF1, CACNA1A, SCN1A, CSTB, CLN5, SLC35A3, PPT1, CLN8, CLN6, TSC1, SMC1A, SYNGAP1, CBL, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC6A8, FARS2, PNKD, WWOX, CLN3, TPP1, ALDH7A1, ALDH5A1, SLC9A6, AMT, GLDC, GCSH, SLC25A22, CTSD, STXBP1, GATM, GAMT, SLC25A12, ABAT, DHDDS, LIAS, MECP2, POLG, ADSL, PTEN, UBE3A Specificity 1 % Genes 10 %
Atrioventricular block Deletion/ Duplication panel. By Connective Tissue Gene Tests in United States. NKX2-5, TRPM4, SCN5A, SCN1B, EMD, DES, LMNA Specificity 43 % Genes 15 %
Neurogenetic Disorders - panels. By MGZ Medical Genetics Center in Germany. PITRM1, KLC4, PTCD1, VPS11, TXN2, STAT2, PODXL, PPT2, GTPBP2, SLC25A26, KCNA4, SLC25A42, FLRT1, CCDC115, TANGO2, LONP1, TRIT1, RMND1, VARS2, TARS2 , (...) View the complete list with 577 more genes Panel GTR000552437 complete gene list PITRM1, KLC4, PTCD1, VPS11, TXN2, STAT2, PODXL, PPT2, GTPBP2, SLC25A26, KCNA4, SLC25A42, FLRT1, CCDC115, TANGO2, LONP1, TRIT1, RMND1, VARS2, TARS2, TRMT5, PARS2, MRPS7, MRPL44, NDUFB11, COQ7, IARS2, GTPBP3, COX8A, ARHGEF15, FLAD1, ISCA2, LYRM7, ARSI, USP8, WDR48, ZFR, NDUFB9, ATP2B4, CARS2, CAD, LARS, ATP5F1A, NPRL3, CACNA1B, EXOSC8, CLP1, AIMP1, UQCRC2, TALDO1, GPHN, PDE8B, SLC52A3, LMNB1, DGAT2, STUB1, SLC6A19, RNF216, RNASEH1, PTRH2, PIK3R5, NOL3, GRID2, SLC52A2, CACNA1G, ATP8A2, RARS, AAAS, ACY1, SLC30A10, ADCY5, GNAL, ECHS1, KCTD17, HPCA, ANO3, UBA5, CLPB, SERAC1, PDGFB, SLC1A4, PYCR2, SEPSECS, AMPD2, XRCC4, KCNH5, GRIK2, ARL6IP1, IBA57, ALG14, LRP4, PREPL, DNAJC3, HEPACAM, MICU1, SLC25A46, EPG5, PRKRA, RANBP2, XK, COQ8B, VPS35, EIF2AK3, ABCA1, APOB, HADH, SLC6A3, MR1, EARS2, FBXO7, TPK1, PRNP, CSF1R, SCO1, COX10, MARS2, DCAF17, COASY, CP, FTL, NBAS, GJA1, CCT5, RNASET2, ACTG2, FDX2, STAMBP, ZFYVE27, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, C19orf12, KIF1C, NT5C2, ENTPD1, PGAP1, CPT1C, MAG, REEP2, ERLIN1, MYBPC1, GMPPB, TOR1AIP1, HNRNPDL, DNA2, FBXL4, NKX2-1, TBK1, LYST, GAN, TFG, MARS, TUBB2A, EXOSC3, CLCN2, CLCN4, SLC16A2, TAF1, LAMP2, HCFC1, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, CHD8, CACNA1C, FUCA1, NARS2, PEX6, LARS2, SLC19A2, SOX10, DNMT1, NLRP3, PNPT1, POLR1C, CLPP, VPS13A, GFAP, TREX1, KDM5C, ARHGEF9, RNASEH2B, RNASEH2C, RNASEH2A, KCNJ10, SAMHD1, PNKP, TSEN54, RELN, QARS, COL4A1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, SCARB2, KCNMA1, MBD5, LMNB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GABRD, FOLR1, STX1B, SYNJ1, SCN2A, SCN1B, SLC19A3, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, CACNA1H, ATP1A3, ATP1A2, COL6A3, CHKB, DPM2, LAMA2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, ANO10, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, SLC1A3, CACNB4, KCNA1, SYNE1, BICD2, MTM1, UBQLN2, TARDBP, CHMP2B, SETX, RYR1, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, RTN2, WASHC5, BSCL2, SLC33A1, NIPA1, L1CAM, KIF5A, SPAST, CASR, SNCA, SGCE, LRRK2, GCH1, THAP1, TOR1A, CACNA1A, PPP2R2B, NOTCH3, APOE, MAPT, PSEN2, SCN1A, CSTB, SPG11, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, ATL1, DNM2, GDAP1, RAPSN, PLA2G6, PHGDH, CIZ1, SLC6A5, GLRA1, GLRB, NOP56, COL4A2, FAM126A, RETREG1, PSAT1, SNX14, APOPT1, CHCHD10, PRDM8, POLR3B, POLR3A, TRNT1, PMPCA, RUBCN, COQ4, EIF2B5, CLN5, TTPA, SUMF1, SLC17A5, PEX1, MCOLN1, MLC1, TH, SACS, PEX7, PPT1, PEX2, MTTP, DOK7, CLN8, CLN6, CHRNE, SDHD, MRE11, ATM, SYNGAP1, SLC2A1, PLP1, PCDH19, NPC2, NPC1, MEF2C, GJC2, FOXG1, EIF2B1, CDKL5, GBA, ARX, ASPA, ARSA, MGME1, DPAGT1, SDHA, PDHX, MTFMT, SLC6A8, HARS2, FARS2, TACO1, PNKD, WWOX, KIF21A, CLN3, TPP1, SLC25A38, ASL, APTX, PRKN, SLC25A20, SLC22A5, CYP27A1, ASS1, COX6B1, FASTKD2, LRPPRC, FXN, GCDH, ETFDH, ETFA, ETFB, GBE1, L2HGDH, SLC25A15, IVD, GALC, DLAT, SUCLG1, DBT, HIBCH, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, MOCS1, MOCS2, CHAT, CPT1A, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, ACOX1, ALDH7A1, PHYH, HEXB, ALDH3A2, HEXA, ABHD5, ABCD1, AIFM1, ABCB7, TAZ, TIMM8A, PDHA1, OTC, PUS1, SQSTM1, ETHE1, TYMP, GAD1, SCO2, GLDC, PINK1, PCCA, PCCB, PARK7, SPG7, COQ2, NDUFA13, GRN, ALG2, PDP1, GFM1, SLC25A22, TK2, POLG2, DNAJC19, REEP1, MRPS16, TSFM, TUFM, PNPLA2, SLC25A3, DARS2, RARS2, MRPS22, COQ8A, SUCLA2, STXBP1, SDHB, COX4I2, SPR, SPTAN1, PLCB1, DYRK1A, SCN8A, WDR45, DOCK7, SLC13A5, SNAP25, SIK1, EEF1A2, SPATA5, HNRNPU, ATP13A2, GAMT, SLC25A12, TMEM126A, GFER, KARS, NUBPL, NDUFA10, MTPAP, TTC19, NDUFAF1, NFU1, SARS2, TMEM70, PDHB, BOLA3, DGUOK, ALDH18A1, AGK, COX14, NDUFA9, NDUFB3, NDUFA12, COQ6, PDSS1, PDSS2, COQ9, MTO1, MECP2, VCP, OPA3, PANK2, SDHC, MFN2, ALAS2, NDUFAF2, RRM2B, FOXRED1, AFG3L2, GARS, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, ELOVL4, PSAP, WFS1, TRMU, OPA1, CPT2, CPS1, HSD17B4, AMACR, SDHAF2, TUBB3, PSEN1, APP, PRKCG, MMACHC, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATPAF2, ATP7B, ATP5F1E, UQCRB, ARG1, UQCRQ, PC, YARS2, ACADVL, AGL, ACADS, ACADM, ACAD9, ABHD12, AARS2, UBE3A, TTR, MTHFR Specificity 1 % Genes 15 %
Epilepsy and Mitochondrial Encephalopathy. By MGZ Medical Genetics Center in Germany. PTCD1, PPT2, RMND1, VARS2, TARS2, ARHGEF15, FLAD1, LYRM7, NDUFB9, CLP1, UQCRC2, GPHN, SERAC1, KCNH5, IBA57, MICU1, EIF2AK3, HADH, EARS2, TPK1 , (...) View the complete list with 166 more genes Panel GTR000521058 complete gene list PTCD1, PPT2, RMND1, VARS2, TARS2, ARHGEF15, FLAD1, LYRM7, NDUFB9, CLP1, UQCRC2, GPHN, SERAC1, KCNH5, IBA57, MICU1, EIF2AK3, HADH, EARS2, TPK1, SCO1, MARS2, DCAF17, CP, C19orf12, HNRNPDL, FBXL4, TUBB2A, CLCN4, NEU1, SLC19A2, PNPT1, GFAP, ARHGEF9, PNKP, SPTAN1, PLCB1, SCN8A, WDR45, DOCK7, EEF1A2, HNRNPU, QARS, PRRT2, TBC1D24, ASAH1, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GABRD, FOLR1, SYNJ1, SCN2A, SCN1B, SLC19A3, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, EFHC1, DPM2, SYNE1, FA2H, SLC33A1, SGCE, SCN1A, CSTB, PHGDH, CLN5, PPT1, CLN6, SDHD, SYNGAP1, SLC2A1, PCDH19, NPC2, NPC1, MEF2C, FOXG1, CDKL5, ARX, DPAGT1, SDHA, PDHX, MTFMT, SLC6A8, FARS2, TACO1, CLN3, TPP1, SLC25A20, FASTKD2, LRPPRC, ETFDH, ETFA, ETFB, SUCLG1, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA1, NDUFAF3, SDHAF1, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, NDUFA2, MPV17, ALDH7A1, HEXB, HEXA, TAZ, TIMM8A, PDHA1, PUS1, ETHE1, TYMP, TRIT1, SCO2, GLDC, SPG7, PDP1, GFM1, SLC25A22, TK2, MRPS16, TSFM, TUFM, SLC25A3, RARS2, MRPS22, SUCLA2, STXBP1, SDHB, GAMT, SLC25A12, GFER, NUBPL, MTPAP, TTC19, NFU1, SARS2, TMEM70, PDHB, NDUFA9, NDUFB3, NDUFA12, PDSS1, PDSS2, MTO1, MECP2, PANK2, SDHC, NDUFAF2, RRM2B, FOXRED1, SLC25A4, SLC25A19, NDUFS4, POLG, WFS1, TRMU, OPA1, SDHAF2, UQCRB, UQCRQ, PC, YARS2, UBE3A Specificity 1 % Genes 5 %
Brain Malformations / Neuronal Migration Disorders. By MGZ Medical Genetics Center in Germany. NXF5, HERC2, ARHGEF15, JAM3, DARS, CLP1, DIS3L2, COL4A2, POLR3B, POLR3A, ITM2B, STUB1, NOL3, SEPSECS, KCNH5, ZNF674, KIF2A, KIF5C, TUBB, TUBG1 , (...) View the complete list with 246 more genes Panel GTR000521067 complete gene list NXF5, HERC2, ARHGEF15, JAM3, DARS, CLP1, DIS3L2, COL4A2, POLR3B, POLR3A, ITM2B, STUB1, NOL3, SEPSECS, KCNH5, ZNF674, KIF2A, KIF5C, TUBB, TUBG1, CCND2, HEPACAM, TBC1D7, KPTN, OCLN, ADA2, TDGF1, XK, AKT1, AKT3, PIK3R2, GNAQ, DISP1, PIK3CA, EOMES, KIF7, DCAF17, CP, FTL, PGK1, ADAR, TUBB4A, C19orf12, SMARCA2, ARID1A, SMARCB1, SMARCA4, SMARCE1, MYBPC1, HNRNPDL, KDM6A, GPSM2, GLI3, RNF135, EZH2, NFIX, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, CEP152, TUBB2A, EXOSC3, THOC2, CLCN4, ZMYM3, EIF2S3, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, MBTPS2, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, NEU1, NLGN3, NLGN4X, ARID1B, CHD8, AP1S2, EHMT1, MED12, MID1, PTCHD1, HTRA1, VPS13A, TREX1, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, DYRK1A, NRXN1, SCN8A, WDR45, NEXMIF, EEF1A2, SETD2, ATP13A2, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, PQBP1, NDE1, QARS, DCX, CENPJ, ARFGEF2, COL4A1, PRRT2, DEPDC5, TBC1D24, ASAH1, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, GABRD, SYNJ1, SCN2A, SCN1B, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, CACNA1H, ASPM, CACNB4, FA2H, L1CAM, CASR, FGF8, SGCE, NOTCH3, SCN1A, CSTB, EIF2B3, PLA2G6, PHGDH, EIF2B5, CLN5, MLC1, PPT1, DOK7, CLN6, GPC3, CDKN1C, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, RAD21, TSC2, HDAC8, WDR62, SLC2A1, PORCN, PCDH19, MEF2C, IDS, FOXG1, CHD7, CDKL5, ELP1, ARX, ASPA, FGFR3, CLN3, TPP1, CYP27A1, GALC, SGSH, HGSNAT, ALDH7A1, SLC9A6, ACSL4, MAOA, GK, GLDC, SLC25A22, TUBA1A, STXBP1, GAMT, MECP2, FH, PANK2, HPRT1, HSD17B10, TUBB3, APP, PTEN, UBE3A, FMR1 Specificity 1 % Genes 5 %
Epilepsy. By MGZ Medical Genetics Center in Germany. PTCD1, PPT2, TRIT1, RMND1, VARS2, TARS2, ARHGEF15, FLAD1, LYRM7, NDUFB9, CLP1, UQCRC2, GPHN, FAM126A, POLR3B, POLR3A, NOL3, SERAC1, KCNH5, IBA57 , (...) View the complete list with 192 more genes Panel GTR000521111 complete gene list PTCD1, PPT2, TRIT1, RMND1, VARS2, TARS2, ARHGEF15, FLAD1, LYRM7, NDUFB9, CLP1, UQCRC2, GPHN, FAM126A, POLR3B, POLR3A, NOL3, SERAC1, KCNH5, IBA57, MICU1, EIF2AK3, HADH, EARS2, TPK1, SCO1, MARS2, DCAF17, CP, FTL, TUBB4A, C19orf12, MYBPC1, GMPPB, HNRNPDL, FBXL4, TUBB2A, CLCN4, NEU1, CHD8, SLC19A2, PNPT1, GFAP, ARHGEF9, PNKP, SPTAN1, PLCB1, DYRK1A, SCN8A, WDR45, DOCK7, EEF1A2, HNRNPU, ATP13A2, QARS, PRRT2, DEPDC5, TBC1D24, ASAH1, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GABRD, FOLR1, STX1B, SYNJ1, SCN2A, SCN1B, SLC19A3, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, CACNA1H, ATP1A2, DPM2, CACNB4, SYNE1, FA2H, SLC33A1, CASR, SGCE, CACNA1A, SCN1A, CSTB, EIF2B3, PLA2G6, PHGDH, CLN5, PPT1, CLN6, SDHD, SYNGAP1, SLC2A1, PLP1, PCDH19, NPC2, NPC1, MEF2C, FOXG1, CDKL5, ARX, DPAGT1, SDHA, PDHX, MTFMT, SLC6A8, FARS2, TACO1, CLN3, TPP1, SLC25A20, FASTKD2, LRPPRC, ETFDH, ETFA, ETFB, SUCLG1, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA1, NDUFAF3, SDHAF1, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, NDUFA2, MPV17, ALDH7A1, HEXB, HEXA, TAZ, TIMM8A, PDHA1, PUS1, ETHE1, TYMP, SCO2, GLDC, SPG7, PDP1, GFM1, SLC25A22, TK2, MRPS16, TSFM, TUFM, SLC25A3, RARS2, MRPS22, SUCLA2, STXBP1, SDHB, GAMT, SLC25A12, GFER, NUBPL, MTPAP, TTC19, NFU1, SARS2, TMEM70, PDHB, NDUFA9, NDUFB3, NDUFA12, PDSS1, PDSS2, MTO1, MECP2, PANK2, SDHC, NDUFAF2, RRM2B, FOXRED1, SLC25A4, SLC25A19, NDUFS4, POLG, WFS1, TRMU, OPA1, AMACR, SDHAF2, UQCRB, UQCRQ, PC, YARS2, UBE3A Specificity 1 % Genes 5 %
Epileptic encephalopathy panel. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. SRGAP2, MAPK10, TBCE, ZEB2, ARHGEF9, PNKP, SPTAN1, PLCB1, SCN8A, MAGI2, GRIN2A, PNPO, KCNQ2, KCNT1, GRIN2B, SCN2A, SCN1B, SLC19A3, SCN9A, SCN1A , (...) View the complete list with 12 more genes Panel GTR000509402 complete gene list SRGAP2, MAPK10, TBCE, ZEB2, ARHGEF9, PNKP, SPTAN1, PLCB1, SCN8A, MAGI2, GRIN2A, PNPO, KCNQ2, KCNT1, GRIN2B, SCN2A, SCN1B, SLC19A3, SCN9A, SCN1A, SYNGAP1, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, ALDH7A1, SLC25A22, STXBP1, MECP2, UBE3A Specificity 4 % Genes 5 %
Febrile seizures / genetic epilepsy with febrile seizures plus (GEFS+) panel. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. CLCN2, TBC1D24, GABRG2, GABRD, SCN2A, SCN1B, SCN9A, SCN1A, PCDH19, ADGRV1 Specificity 10 % Genes 5 %
Generalized epilepsy with febrile seizures plus type 1. By Centogene AG - the Rare Disease Company in Germany. SCN1B Specificity 100 % Genes 5 %
Brugada syndrome panel. By Centogene AG - the Rare Disease Company in Germany. GPD1L, CACNB2, KCNE3, SCN3B, SLMAP, CACNA1C, SCN5A, HCN4, SCN1B Specificity 100 % Genes 43 %
Arrhythmia, familial panel. By Centogene AG - the Rare Disease Company in Germany. NPPA, DSC2, JUP, DSG2, PLN, TGFB3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, CACNA1C , (...) View the complete list with 9 more genes Panel GTR000503343 complete gene list NPPA, DSC2, JUP, DSG2, PLN, TGFB3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, CACNA1C, KCNQ1, KCNE1, SCN5A, SCN1B, KCNH2, KCNJ2, TMEM43, CAV3, DSP Specificity 32 % Genes 43 %
Idiopathic Generalized and Focal Epilepsy Panel. By CeGaT GmbH in Germany. NIPA2, UBR5, RBFOX3, CNTN2, CLCN2, SCN8A, RBFOX1, PRRT2, DEPDC5, TBC1D24, KCNMA1, GRIN2A, GABRG2, GABRA1, CHRNA4, CHRNA2, KCNQ3, KCNQ2, KCNT1, GABRD , (...) View the complete list with 20 more genes Panel GTR000522397 complete gene list NIPA2, UBR5, RBFOX3, CNTN2, CLCN2, SCN8A, RBFOX1, PRRT2, DEPDC5, TBC1D24, KCNMA1, GRIN2A, GABRG2, GABRA1, CHRNA4, CHRNA2, KCNQ3, KCNQ2, KCNT1, GABRD, STX1B, SCN2A, SCN1B, SCN9A, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, SLC1A3, CACNB4, KCNA1, CASR, CACNA1A, SCN1A, SLC2A1, ALDH7A1, ME2, AMACR Specificity 3 % Genes 5 %
Single gene testing SCN1B. By CeGaT GmbH in Germany. SCN1B Specificity 100 % Genes 5 %
Brugada Syndrome 5, SCN1B. By GGA - Galil Genetic Analysis in Israel. SCN1B Specificity 100 % Genes 5 %
Atrial fibrillation, familial, 13; SCN1B. By MVZ Dortmund Dr. Eberhard & Partner in Germany. SCN1B Specificity 100 % Genes 5 %
Brugada Syndrome 5, Cardiac conduction defect, nonspecific, SCN1B. By MVZ Dortmund Dr. Eberhard & Partner in Germany. SCN1B Specificity 100 % Genes 5 %
Cardiac conduction disease Panel. By Health in Code in Spain. IRX3, KCNK17, TNNI3K, CAVIN4, SCN10A, GJA5, NPPA, TBX5, PRKAG2, MYH6, NKX2-5, ACTC1, SCN4B, KCNE2, TRPM4, LAMP2, KCNQ1, CACNA1D, SCN5A, HCN4 , (...) View the complete list with 14 more genes Panel GTR000530659 complete gene list IRX3, KCNK17, TNNI3K, CAVIN4, SCN10A, GJA5, NPPA, TBX5, PRKAG2, MYH6, NKX2-5, ACTC1, SCN4B, KCNE2, TRPM4, LAMP2, KCNQ1, CACNA1D, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, EMD, SYNE2, SYNE1, LDB3, MYH7, DES, LMNA, GLA, GAA, TTR, HFE Specificity 15 % Genes 24 %
Brugada syndrome 5. By Praxis fuer Humangenetik Wien in Austria. SCN1B Specificity 100 % Genes 5 %
Brugada syndrome 5. By MedGene in Slovakia. SCN1B Specificity 100 % Genes 5 %
Epilepsy, generalized with febrile seizures plus (GEFS+) 1. By MedGene in Slovakia. SCN1B Specificity 100 % Genes 5 %
Invitae Epilepsy Panel. By Invitae in United States. ITPA, SNX27, FRRS1L, NGLY1, GLRA1, C12orf57, PACS1, IER3IP1, SATB2, ZDHHC9, EHMT1, ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, ATRX, SERPINI1, CNTNAP2, TCF4 , (...) View the complete list with 105 more genes Panel GTR000551760 complete gene list ITPA, SNX27, FRRS1L, NGLY1, GLRA1, C12orf57, PACS1, IER3IP1, SATB2, ZDHHC9, EHMT1, ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, ATRX, SERPINI1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, GNAO1, SZT2, NEXMIF, SLC13A5, KCNB1, PURA, DNM1, KCNA2, EEF1A2, SPATA5, HNRNPU, CACNA2D2, MFSD8, DNAJC5, QARS, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ALG13, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, SLC19A3, SCN9A, PRICKLE1, KCNH2, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CHRNB2, ATP1A3, ATP1A2, SGCE, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, SMC1A, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC6A8, PNKD, WWOX, CLN3, TPP1, ALDH7A1, ALDH5A1, SLC9A6, SLC25A22, CTSD, STXBP1, GATM, GAMT, LIAS, MECP2, POLG, ADSL, UBE3A Specificity 1 % Genes 5 %
DRAVET, SYNDROME & MIOCLONIC EPILEPSY. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. GABRG2, GABRA1, EPM2A, GABRD, SCN2A, SCN1B, SCN9A, NHLRC1, EFHC1, CACNB4, SCN1A, PCDH19, CHRNA7 Specificity 8 % Genes 5 %
Brugada Syndrome: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. GPD1L, CACNB2, KCNE3, SCN3B, CACNA1C, SCN5A, HCN4, SCN1B Specificity 100 % Genes 39 %
Arrhythmias: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. CTNNA3, GJA5, NPPA, DSC2, RANGRF, JUP, DSG2, NKX2-5, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2 , (...) View the complete list with 17 more genes Panel GTR000512328 complete gene list CTNNA3, GJA5, NPPA, DSC2, RANGRF, JUP, DSG2, NKX2-5, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, TRPM4, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TMEM43, DSP Specificity 38 % Genes 67 %
Epilepsy and Seizure Disorders: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2 , (...) View the complete list with 90 more genes Panel GTR000512416 complete gene list ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, RELN, SIX3, NDE1, EMX2, DCX, CENPJ, BCKDK, PRRT2, TBC1D24, SCARB2, KCNMA1, MBD5, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, FOLR1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CPA6, CHRNB2, ATP1A2, ASPM, MCPH1, CACNB4, KCNA1, CASR, KCNJ11, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, TSC2, WDR62, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, CLN3, TPP1, CYP27A1, NDUFA1, ALDH7A1, ALDH5A1, SLC9A6, SLC25A22, CTSD, STXBP1, GATM, GAMT, ABAT, LIAS, MECP2, SLC25A19, POLG, SHH, ADGRV1, ADSL, UBE3A, MTHFR Specificity 2 % Genes 10 %
Epilepsy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B , (...) View the complete list with 323 more genes Panel GTR000509399 complete gene list EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B, SCN3B, SCN2B, GLI3, GNPTG, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, NODAL, ABCB1, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, VANGL1, CLCN2, CCL2, SPRED1, NEU1, CLCNKA, KAT6B, PEX5, PEX12, PEX26, PEX3, PEX14, FUCA1, PEX6, GRIA3, SYP, PHF6, FGD1, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, PIGV, GRIN1, NRXN1, SCN8A, MAGI2, KMT2D, MFSD8, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, PRRT2, TBC1D24, SCN5A, SCARB2, KCNMA1, MBD5, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, HCN1, GRIN2B, GABRD, FOLR1, SCN2A, SCN1B, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GABRB3, LGI1, EFHC1, CHRNB2, CACNA1H, ATP1A2, ASPM, MCPH1, LARGE1, LAMA2, CACNB4, KCNA1, POMT1, POMT2, VRK1, KCNJ1, CLCNKB, CASR, FGF8, KCNJ11, NF1, CACNA1A, SCN4A, FKRP, NOTCH3, AHI1, SCN1A, CSTB, EIF2B4, EIF2B2, EIF2B3, TMEM216, DPYD, PLA2G6, EIF2B5, CLN5, ABCC8, SUMF1, SLC17A5, POMGNT1, PEX1, MCOLN1, MLC1, PEX7, PPT1, PEX2, FKTN, CLN8, CLN6, GPC3, PTCH1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, TSC2, MAP2K2, WDR62, SOS1, SLC2A1, SHOC2, RAI1, PTPN11, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IDUA, IDS, HRAS, FOXG1, EIF2B1, CDKL5, BRAF, ARX, ASPA, ARSA, FGFR3, HPD, MOGS, DPAGT1, DOLK, ARSB, AGA, SDHA, TACO1, CLN3, TPP1, APTX, PMM2, MGAT2, LRPPRC, GCDH, ETFDH, ETFA, ETFB, L2HGDH, ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, SLC25A15, ALDH4A1, GALC, NDUFV1, NDUFS1, NDUFA1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, NDUFS3, NDUFS7, NDUFS8, COX15, NDUFA2, CTSA, QDPR, ALDH7A1, SLC35C1, HEXB, ALDH5A1, SUOX, HEXA, SLC9A6, PDHA1, ALG3, MPI, ALG6, SLC35A1, SCO2, AMT, GLDC, GCSH, B4GALT1, ALG12, COQ2, ALG2, ALG8, ALG1, ATIC, ALG9, COG7, DPM1, MPDU1, SLC25A22, CTSD, KCNV2, COG8, COG1, RARS2, TUBA1A, RFT1, COQ8A, STXBP1, GATM, GAMT, DPM3, ABAT, TMEM70, PDSS1, PDSS2, COQ9, MECP2, SMPD1, FH, RAF1, PANK2, SLC25A19, NDUFS4, POLG, DLD, SHH, CEP290, ADGRV1, NPHP1, TMEM67, HSD17B10, GNE, ATP6V0A2, PRODH, CC2D2A, GLB1, GNPTAB, PSAP, CPT2, PAX6, ADSL, C12orf65, BCS1L, ATPAF2, BTD, ARG1, PC, UBE3A, MTHFR Specificity 2 % Genes 29 %
Essential Epilepsy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. MAPK10, ACY1, TREX1, ZEB2, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ROGDI, ST3GAL3, GNAO1, SZT2 , (...) View the complete list with 50 more genes Panel GTR000531690 complete gene list MAPK10, ACY1, TREX1, ZEB2, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ROGDI, ST3GAL3, GNAO1, SZT2, KCNB1, SIK1, DNM1, KCNA2, PRRT2, DEPDC5, TBC1D24, ALG13, MBD5, GRIN2A, GABRG2, GABRA1, CHD2, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC35A2, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, GABRB3, LGI1, CHRNB2, SCN1A, TSC1, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, ALDH7A1, SLC9A6, SLC25A22, STXBP1, GAMT, MECP2, POLG, ADSL, UBE3A Specificity 2 % Genes 5 %
Comprehensive Epilepsy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5 , (...) View the complete list with 427 more genes Panel GTR000531707 complete gene list RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5, HDAC4, SLC6A5, GLRA1, GLRB, DHFR, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, KCNH5, C12orf57, ANK3, MED17, CCDC88C, SNAP29, ASNS, LIG4, NHEJ1, AKT3, SLC46A1, COX10, ARL13B, RPGRIP1L, PGK1, ADAR, SMARCA2, KDM6A, SCN4B, SCN3B, SCN2B, GLI3, GNPTG, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, NODAL, ABCB1, CEP152, ZIC2, TGIF1, TUBB2A, TSEN2, TSEN34, VANGL1, MTOR, NEDD4L, CLCN2, CCL2, SPRED1, CLCN4, UBE2A, NEU1, CLCNKA, KAT6B, PEX5, PEX12, PEX26, PEX3, PEX14, MED12, NTNG1, FUCA1, PEX6, ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCNH2, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A2, ASPM, MCPH1, LARGE1, DPM2, LAMA2, SLC1A3, CACNB4, KCNA1, POMT1, POMT2, VRK1, DYNC1H1, KCNJ1, CLCNKB, CASR, FGF8, KCNJ11, NF1, CACNA1A, SCN4A, FKRP, NOTCH3, AHI1, SCN1A, CSTB, EIF2B4, EIF2B2, EIF2B3, TMEM216, DPYD, PLA2G6, EIF2B5, CLN5, ABCC8, SUMF1, SLC17A5, POMGNT1, PEX1, MCOLN1, MLC1, PEX7, PPT1, PEX2, FKTN, CLN8, CLN6, HNRNPH1, KCNAB2, GPC3, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, TSC2, MAP2K2, WDR62, SOS1, SLC2A1, SHOC2, RAI1, PTPN11, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IDUA, IDS, HRAS, FOXG1, EIF2B1, DHCR7, CHRNA7, CDKL5, BRAF, ARX, ASPA, ARSA, FGFR3, HPD, MOGS, DPAGT1, DOLK, ARSB, AGA, SDHA, SLC6A8, FARS2, TACO1, WWOX, CLN3, TPP1, APTX, PMM2, MGAT2, LRPPRC, GCDH, ETFDH, ETFA, ETFB, L2HGDH, SLC25A15, ALDH4A1, GALC, NDUFV1, NDUFS1, NDUFA1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, CTSA, QDPR, ALDH7A1, SLC35C1, HEXB, ALDH5A1, SUOX, HEXA, SLC9A6, PDHA1, ALG3, MPI, ALG6, SLC35A1, SCO2, AMT, GLDC, GCSH, GLUD1, B4GALT1, ALG12, COQ2, GRN, ALG2, ALG8, ALG1, ATIC, ALG9, COG7, DPM1, MPDU1, SLC25A22, CTSD, KCNV2, COG8, COG1, RARS2, TUBA1A, RFT1, COQ8A, STXBP1, GATM, GAMT, DPM3, SLC25A12, ABAT, TMEM70, BOLA3, LIAS, PDSS1, PDSS2, COQ9, MECP2, SMPD1, FH, RAF1, PANK2, SLC25A19, NDUFS4, POLG, DLD, ME2, SHH, CEP290, ADGRV1, NPHP1, TMEM67, HSD17B10, GNE, ATP6V0A2, PRODH, CC2D2A, GLB1, GNPTAB, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, PIGV, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, NR2F1, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, MAGI2, CACNA2D2, RBFOX1, KMT2D, ATP13A2, MFSD8, DNAJC5, CTSF, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, PSAP, CPT2, AMACR, PAX6, ADSL, C12orf65, TWNK, BCS1L, AUH, ATPAF2, BTD, ARG1, PC, UBE3A, MTHFR Specificity 2 % Genes 29 %
Brugada Syndrome Panel. By Blueprint Genetics in Finland. CACNB2, SCN3B, TRPM4, CACNA1C, SCN5A, HCN4, SCN1B, KCNH2, CAV3 Specificity 78 % Genes 34 %
Epileptic Encephalopathy Panel. By Blueprint Genetics in Finland. TBCK, RMND1, MRPL44, GTPBP3, HECW2, LYRM7, NACC1, UNC80, FAR1, GPHN, SLC12A5, APOPT1, FGF12, ECHS1, UBA5, TBCD, SERAC1, TBCE, SLC25A1, ASNS , (...) View the complete list with 108 more genes Panel GTR000552752 complete gene list TBCK, RMND1, MRPL44, GTPBP3, HECW2, LYRM7, NACC1, UNC80, FAR1, GPHN, SLC12A5, APOPT1, FGF12, ECHS1, UBA5, TBCD, SERAC1, TBCE, SLC25A1, ASNS, HEPACAM, SCO1, ADAR, NECAP1, CLCN4, TREX1, ZEB2, CASK, SYN1, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, GNAO1, SZT2, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, HNRNPU, FLNA, DCX, BRAT1, TBC1D24, ALG13, MBD5, GRIN2A, GABRG2, GABRA1, CHD2, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRB2, SLC35A2, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, GABRB3, KIF1A, CACNA1A, SCN1A, TSC1, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, MTFMT, SLC6A8, FARS2, WWOX, COX6B1, LRPPRC, HIBCH, NDUFS2, NDUFV1, SDHAF1, MOCS1, NDUFAF6, NDUFS7, NDUFS8, ALDH7A1, SLC9A6, D2HGDH, ETHE1, AMT, GLDC, SLC25A22, STXBP1, GAMT, ABAT, NUBPL, TTC19, DNM1L, MECP2, NDUFS4, POLG, CPT2, ADSL, UBE3A, MTHFR, HTT Specificity 1 % Genes 5 %
Comprehensive Epilepsy Panel. By Blueprint Genetics in Finland. SNORD118, SLC39A8, YY1, TBCK, RMND1, MRPL44, GTPBP3, HECW2, WDR26, LYRM7, DARS, KCNH1, NACC1, DPYS, UNC80, FAR1, AIMP1, ECM1, GPHN, PIGT , (...) View the complete list with 263 more genes Panel GTR000552774 complete gene list SNORD118, SLC39A8, YY1, TBCK, RMND1, MRPL44, GTPBP3, HECW2, WDR26, LYRM7, DARS, KCNH1, NACC1, DPYS, UNC80, FAR1, AIMP1, ECM1, GPHN, PIGT, SLC12A5, GLRB, DHFR, FAM126A, CERS1, APOPT1, POLR3B, POLR3A, LMNB1, FGF12, RNF216, RARS, ECHS1, GNB1, UBA5, TBCD, SERAC1, TBCE, PYCR2, CC2D1A, GRIK2, SLC25A1, IBA57, ASNS, HEPACAM, DDC, EARS2, SLC46A1, CSF1R, SCO1, MARS2, CTC1, RNASET2, PGK1, AP4M1, AP4E1, AP4B1, AP4S1, ADAR, TUBB4A, HACE1, MTOR, CLCN2, NECAP1, CLCN4, TAF1, UBE2A, NEU1, MED12, SOX10, HTRA1, VPS13A, GFAP, TREX1, ZEB2, RAB39B, CUL4B, CASK, OPHN1, SYN1, KDM5C, ARHGEF9, GRIA3, PHF6, IQSEC2, ATRX, SMS, OFD1, SERPINI1, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, PIGV, PIGN, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, GNAO1, SZT2, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, HNRNPU, MAGI2, ATP13A2, MFSD8, DNAJC5, CTSF, FLNA, RELN, DCX, COL4A1, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CHRNB2, CACNA1H, ATP1A3, CACNB4, KCNA1, FA2H, KIF1A, CASR, GCH1, CACNA1A, NOTCH3, SCN1A, CSTB, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, DPYD, EIF2B5, CLN5, SUMF1, MLC1, PPT1, CLN8, CLN6, TSC1, SYNGAP1, TSC2, SLC2A1, PLP1, PCDH19, MEF2C, GJC2, FOXG1, EIF2B1, CDKL5, ARX, ASPA, ARSA, AGA, MTFMT, SLC6A8, FARS2, WWOX, CLN3, TPP1, CYP27A1, COX6B1, LRPPRC, GCDH, ETFDH, ETFA, ETFB, L2HGDH, SLC25A15, GALC, HIBCH, NDUFAF5, NDUFS2, NDUFV1, SDHAF1, MOCS1, NDUFAF6, NDUFS7, NDUFS8, COX15, QDPR, PTS, ALDH7A1, ALDH3A2, ALDH5A1, SUOX, ABCD1, SLC9A6, AIFM1, D2HGDH, ETHE1, AMT, GLDC, GRN, GFM1, SLC25A22, CTSD, DARS2, STXBP1, GAMT, ABAT, NUBPL, TTC19, NFU1, DNM1L, MECP2, FH, FOXRED1, AFG3L2, HSPD1, NDUFS4, POLG, HSD17B10, GNE, PRODH, GLB1, PSAP, CPT2, AMACR, ADSL, BTD, ARG1, UBE3A, MTHFR, HTT Specificity 1 % Genes 5 %
Idiopathic Generalized and Focal Epilepsy Panel. By Blueprint Genetics in Finland. MTOR, CLCN2, SCN8A, RELN, PRRT2, DEPDC5, TBC1D24, GRIN2A, GABRG2, GABRA1, CHRNA4, CHRNA2, KCNC1, KCNQ3, KCNQ2, KCNT1, SLC6A1, STX1B, SCN2A, SCN1B , (...) View the complete list with 14 more genes Panel GTR000552780 complete gene list MTOR, CLCN2, SCN8A, RELN, PRRT2, DEPDC5, TBC1D24, GRIN2A, GABRG2, GABRA1, CHRNA4, CHRNA2, KCNC1, KCNQ3, KCNQ2, KCNT1, SLC6A1, STX1B, SCN2A, SCN1B, SCN9A, GABRB3, LGI1, EFHC1, CHRNB2, CACNA1H, CACNB4, KCNA1, CASR, SCN1A, SLC2A1, ALDH7A1, POLG, AMACR Specificity 3 % Genes 5 %
Arrhythmia Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4 , (...) View the complete list with 5 more genes Panel GTR000522197 complete gene list SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3 Specificity 48 % Genes 58 %
SCN1B Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. SCN1B Specificity 100 % Genes 5 %
SCN1B Gene, entire coding region or targeted variant. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. SCN1B Specificity 100 % Genes 5 %
BRUGADA SYNDROME. By Laboratorio de Genetica Clinica SL in Spain. GPD1L, CACNB2, KCNE3, SCN3B, TRPM4, CACNA1C, SCN5A, HCN4, SCN1B Specificity 100 % Genes 43 %
Brugada Syndrome, Panel Massive Sequencing (NGS) 8 Genes. By Reference Laboratory Genetics in Spain. GPD1L, CACNB2, KCNE3, SCN3B, CACNA1C, SCN5A, HCN4, SCN1B Specificity 100 % Genes 39 %
Generalized Epilepsy with Febrile Seizures Plus, Panel Massive Sequencing (NGS) 5 Genes. By Reference Laboratory Genetics in Spain. GABRG2, GABRD, SCN1B, SCN9A, SCN1A Specificity 20 % Genes 5 %
Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes. By Reference Laboratory Genetics in Spain. CHRNA3, CHRNA5, GRIN2D, GLRA1, CHRNG, CACNA1D, ARHGEF9, PNKP, SPTAN1, PLCB1, PIGA, SCN8A, ST3GAL3, TBC1D24, GABRG2, GABRA1, CHRNA4, CHRNA2, KCNQ2, GABRD , (...) View the complete list with 24 more genes Panel GTR000559908 complete gene list CHRNA3, CHRNA5, GRIN2D, GLRA1, CHRNG, CACNA1D, ARHGEF9, PNKP, SPTAN1, PLCB1, PIGA, SCN8A, ST3GAL3, TBC1D24, GABRG2, GABRA1, CHRNA4, CHRNA2, KCNQ2, GABRD, SCN2A, SCN1B, ST3GAL5, SCN9A, CHRNB2, CHRNB1, CHRND, CHRNA1, RYR1, CACNA1S, ATP2A1, CACNA1A, SCN4A, CLCN1, SCN1A, CHRNE, PCDH19, DMPK, CDKL5, ARX, GBE1, SLC25A22, STXBP1, GAA Specificity 3 % Genes 5 %
Cardiac Conduction System Related Disorders , Panel Massive Sequencing (NGS) 20 Genes. By Reference Laboratory Genetics in Spain. TNNI3K, SCN10A, GJA5, TBX5, PRKAG2, NKX2-5, ACTC1, TRPM4, LAMP2, CACNA1D, SCN5A, HCN4, SCN1B, KCNJ2, EMD, DES, LMNA, GLA, GAA, TTR Specificity 25 % Genes 24 %
Childhood Epilepsy. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. ZEB2, SYN1, CNTNAP2, PNKP, NRXN1, WDR45, MAGI2, MFSD8, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, FOLR1, SCN2A, SCN1B, PRICKLE1 , (...) View the complete list with 27 more genes Panel GTR000552155 complete gene list ZEB2, SYN1, CNTNAP2, PNKP, NRXN1, WDR45, MAGI2, MFSD8, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, FOLR1, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, CACNB4, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, SLC2A1, MEF2C, FOXG1, CDKL5, CLN3, TPP1, SLC9A6, CTSD, GATM, GAMT, MECP2, POLG, ADSL, UBE3A Specificity 3 % Genes 5 %
Infantile Epilepsy. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. PCBD1, ZEB2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, WDR45, MAGI2, MFSD8, PRRT2, TBC1D24, MBD5, GRIN2A, GABRG2, PNPO, KCNQ3, KCNQ2 , (...) View the complete list with 40 more genes Panel GTR000552301 complete gene list PCBD1, ZEB2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, WDR45, MAGI2, MFSD8, PRRT2, TBC1D24, MBD5, GRIN2A, GABRG2, PNPO, KCNQ3, KCNQ2, FOLR1, SCN2A, SCN1B, KCTD7, GCH1, SCN1A, PHGDH, CLN5, PPT1, CLN8, CLN6, TSC1, TSC2, SLC2A1, MEF2C, FOXG1, CDKL5, ARX, SLC6A8, CLN3, TPP1, QDPR, PTS, ALDH7A1, ALDH5A1, SLC9A6, AMT, GLDC, SLC25A22, CTSD, STXBP1, GAMT, LIAS, MECP2, POLG, MMACHC, ADSL, BTD, UBE3A, MTHFR Specificity 2 % Genes 5 %
Brugada Syndrome Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. RANGRF, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, KCNJ8, SLMAP, TRPM4, CACNA1C, CACNA2D1, SCN5A, HCN4, SCN1B, KCND3 Specificity 100 % Genes 72 %
Cardiac Arrhythmia Gene Panel. By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital in New Zealand. SCN10A, MYL2, DSC2, RBM20, TNNT2, TPM1, DSG2, MYH6, TNNI3, KCNA5, CASQ2, KCNE2, RYR2, PKP2, CACNB2, CACNA1C, KCNQ1, KCNE1, SCN5A, SCN1B , (...) View the complete list with 8 more genes Panel GTR000553668 complete gene list SCN10A, MYL2, DSC2, RBM20, TNNT2, TPM1, DSG2, MYH6, TNNI3, KCNA5, CASQ2, KCNE2, RYR2, PKP2, CACNB2, CACNA1C, KCNQ1, KCNE1, SCN5A, SCN1B, KCNH2, KCNJ2, MYBPC3, BAG3, MYH7, LMNA, GLA, DSP Specificity 22 % Genes 29 %
SCN1B. By Institute for Human Genetics University Clinic Freiburg in Germany. SCN1B Specificity 100 % Genes 5 %
Epilepsy Panel - Comprehensive. By Molecular Genetics Laboratory London Health Sciences Centre in Canada. PSAT1, CERS1, PSPH, NECAP1, NEU1, ZEB2, CNTNAP2, TCF4, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, DOCK7, DNM1, PRRT2, TBC1D24, ASAH1, SCARB2, MBD5 , (...) View the complete list with 49 more genes Panel GTR000530238 complete gene list PSAT1, CERS1, PSPH, NECAP1, NEU1, ZEB2, CNTNAP2, TCF4, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, DOCK7, DNM1, PRRT2, TBC1D24, ASAH1, SCARB2, MBD5, LMNB2, GRIN2A, EPM2A, CHD2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SCN2A, SCN1B, SCN9A, PRICKLE2, KCTD7, NHLRC1, GOSR2, ATP1A3, ATP1A2, KCNJ2, KCNJ11, SCN1A, CSTB, PHGDH, TSC1, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, ARX, SLC6A8, MOCS1, ALDH7A1, SUOX, SLC9A6, AMT, GLDC, STXBP1, GATM, GAMT, MECP2, POLG, UBE3A Specificity 2 % Genes 5 %
Childhood-Onset Epilepsy Panel. By GeneDx in United States. ZEB2, SYN1, CNTNAP2, TCF4, PNKP, NRXN1, KANSL1, MAGI2, MFSD8, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, FOLR1, SCN2A, SCN1B , (...) View the complete list with 30 more genes Panel GTR000520996 complete gene list ZEB2, SYN1, CNTNAP2, TCF4, PNKP, NRXN1, KANSL1, MAGI2, MFSD8, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, FOLR1, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, CACNB4, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, SLC2A1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, CLN3, TPP1, SLC9A6, CTSD, GATM, GAMT, MECP2, POLG, ADSL, UBE3A Specificity 2 % Genes 5 %
Comprehensive Arrhythmia Panel. By GeneDx in United States. DSC2, RANGRF, JUP, DSG2, NKX2-5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, CACNA1C , (...) View the complete list with 10 more genes Panel GTR000520446 complete gene list DSC2, RANGRF, JUP, DSG2, NKX2-5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, TMEM43, CAV3, DSP Specificity 40 % Genes 58 %
EpiFirst-Fever. By Ambry Genetics in United States. SCN8A, PRRT2, GABRG2, GABRA1, CHD2, HCN1, STX1B, SCN2A, SCN1B, GABRB3, SCN1A, PCDH19, STXBP1 Specificity 8 % Genes 5 %
SCN1B. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SCN1B Specificity 100 % Genes 5 %
SCN1A, SCN1B, GABRG2, GABRD, SCN9A. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. GABRG2, GABRD, SCN1B, SCN9A, SCN1A Specificity 20 % Genes 5 %
CHOP Epilepsy Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. PIGT, SLC12A5, HDAC4, CNKSR2, ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, KCNJ10, PNKP, SPTAN1, PLCB1, GRIN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2 , (...) View the complete list with 69 more genes Panel GTR000553482 complete gene list PIGT, SLC12A5, HDAC4, CNKSR2, ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, KCNJ10, PNKP, SPTAN1, PLCB1, GRIN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2, SLC13A5, KCNB1, PURA, DNM1, KCNA2, EEF1A2, HNRNPU, MFSD8, RELN, QARS, PIGO, PRRT2, DEPDC5, TBC1D24, ASAH1, ALG13, SCARB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, PNPO, KCNQ3, KCNQ2, GRIN2B, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GABRB3, LGI1, KCNA1, DYNC1H1, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, ARX, SLC6A8, WWOX, CLN3, TPP1, ALDH7A1, SLC25A22, CTSD, STXBP1, GATM, GAMT, MECP2, POLG, UBE3A Specificity 2 % Genes 5 %
Cardiac conduction changes (NGS panel for 27 genes). By CGC Genetics in Portugal. TNNI3K, ALG10, PRKAG2, MYH6, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, CACNA1C, KCNQ1 , (...) View the complete list with 7 more genes Panel GTR000523382 complete gene list TNNI3K, ALG10, PRKAG2, MYH6, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, CAV3 Specificity 34 % Genes 43 %
Brugada Syndrome via the SCN1B Gene. By PreventionGenetics PreventionGenetics in United States. SCN1B Specificity 100 % Genes 5 %
Generalized Epilepsy with Febrile Seizures Plus and Dravet syndrome via the SCN1B Gene. By PreventionGenetics PreventionGenetics in United States. SCN1B Specificity 100 % Genes 5 %
SCN1B-Related Generalized Epilepsy with Febrile Seizures Plus. By MGZ Medical Genetics Center in Germany. SCN1B Specificity 100 % Genes 5 %
Brugada Syndrome 5. By MGZ Medical Genetics Center in Germany. SCN1B Specificity 100 % Genes 5 %
Epileptic Encephalopathy. By MGZ Medical Genetics Center in Germany. PPT2, ARHGEF15, CLP1, GPHN, KCNH5, IBA57, HADH, DCAF17, CP, FTL, C19orf12, HNRNPDL, TUBB2A, CLCN4, NEU1, GFAP, ARHGEF9, PNKP, SPTAN1, PLCB1 , (...) View the complete list with 69 more genes Panel GTR000521030 complete gene list PPT2, ARHGEF15, CLP1, GPHN, KCNH5, IBA57, HADH, DCAF17, CP, FTL, C19orf12, HNRNPDL, TUBB2A, CLCN4, NEU1, GFAP, ARHGEF9, PNKP, SPTAN1, PLCB1, SCN8A, WDR45, DOCK7, EEF1A2, HNRNPU, ATP13A2, QARS, PRRT2, TBC1D24, ASAH1, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GABRD, FOLR1, STX1B, SYNJ1, SCN2A, SCN1B, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, EFHC1, DPM2, SYNE1, FA2H, SGCE, SCN1A, CSTB, PLA2G6, PHGDH, CLN5, PPT1, CLN6, SYNGAP1, SLC2A1, PCDH19, NPC2, NPC1, MEF2C, FOXG1, CDKL5, ARX, CLN3, TPP1, ALDH7A1, HEXB, HEXA, GLDC, SLC25A22, STXBP1, GAMT, MECP2, PANK2, POLG, AMACR, UBE3A Specificity 2 % Genes 5 %
Febrile Seizures. By MGZ Medical Genetics Center in Germany. GABRA1, HCN1, GABRD, STX1B, SCN2A, SCN1B, SCN1A, PCDH19 Specificity 13 % Genes 5 %
Cardiac conduction abnormalities panel. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. DSC2, JUP, DSG2, PLN, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, KCNQ1 , (...) View the complete list with 13 more genes Panel GTR000509410 complete gene list DSC2, JUP, DSG2, PLN, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, TMEM43, DES, CACNA1A, CAV3, LMNA, DSP Specificity 34 % Genes 53 %
Brugada syndrome type 5. By Centogene AG - the Rare Disease Company in Germany. SCN1B Specificity 100 % Genes 5 %
Epileptic Encephalopathy Panel. By CeGaT GmbH in Germany. GPHN, HDAC4, ACY1, ADAR, TREX1, ZEB2, CASK, SYN1, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, GRIN1, NRXN1 , (...) View the complete list with 57 more genes Panel GTR000522362 complete gene list GPHN, HDAC4, ACY1, ADAR, TREX1, ZEB2, CASK, SYN1, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, GRIN1, NRXN1, SCN8A, ROGDI, ST3GAL3, WDR45, GNAO1, SZT2, KCNB1, DNM1, KCNA2, HNRNPU, FLNA, DCX, BRAT1, TBC1D24, ALG13, MBD5, GRIN2A, GABRG2, GABRA1, CHD2, PNPO, KCNQ2, KCNT1, GRIN2B, FOLR1, SLC35A2, SCN2A, SCN1B, ST3GAL5, SLC19A3, GABRB3, CACNA1A, SCN1A, TSC1, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, MOCS1, MOCS2, ALDH7A1, SLC9A6, AMT, GLDC, GCSH, SLC25A22, STXBP1, GAMT, MECP2, CPT2, ADSL, UBE3A, MTHFR Specificity 2 % Genes 5 %
Brugada Syndrome Panel. By CeGaT GmbH in Germany. SCN10A, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, TRPM4, CACNA1C, CACNA2D1, SCN5A, HCN4, SCN1B, KCND3 Specificity 100 % Genes 62 %
Generalized epilepsy with febrile seizures plus. By Laboratory of Human Genetics GENOMED Health Care Center in Poland. GABRG2, GABRD, SCN2A, SCN1B, SCN9A, SCN1A Specificity 17 % Genes 5 %
Brugada Syndrome. By Asper Biogene Asper Biogene LLC in Estonia. GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, TRPM4, CACNA1C, SCN5A, HCN4, SCN1B, KCND3 Specificity 100 % Genes 53 %
Epilepsy. By Asper Biogene Asper Biogene LLC in Estonia. SNIP1, ITPA, GPHN, PIGT, SLC12A5, CERS1, FGF12, KIF5C, ADAR, SMARCA2, AARS, MTOR, NECAP1, ZDHHC9, HUWE1, CACNA1D, CASK, ATP6AP2, SYN1, ARHGEF9 , (...) View the complete list with 104 more genes Panel GTR000551668 complete gene list SNIP1, ITPA, GPHN, PIGT, SLC12A5, CERS1, FGF12, KIF5C, ADAR, SMARCA2, AARS, MTOR, NECAP1, ZDHHC9, HUWE1, CACNA1D, CASK, ATP6AP2, SYN1, ARHGEF9, SYP, IQSEC2, ATRX, SERPINI1, TCF4, PNKP, SPTAN1, PLCB1, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, DOCK7, SLC13A5, KCNB1, PURA, SIK1, DNM1, KCNA2, EEF1A2, SPATA5, SRPX2, FLNA, RELN, DCX, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ALG13, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, ST3GAL5, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, KCNA1, DYNC1H1, KIF1A, CACNA1A, SCN1A, CSTB, SLC35A3, TSC1, SYNGAP1, TSC2, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC6A8, WWOX, MOCS1, MOCS2, ALDH7A1, SLC9A6, ALG3, SLC25A22, STXBP1, GAMT, MECP2, POLG, TUBB3, ADSL, GATM, MCCC1, UBE3A Specificity 1 % Genes 5 %
SCN1B gene sequencing. By Health in Code in Spain. SCN1B Specificity 100 % Genes 5 %
Cardiac Conduction Disease Panel. By Health in Code in Spain. CAVIN4, SCN10A, GJA5, NPPA, TBX5, PRKAG2, MYH6, NKX2-5, ACTC1, SCN4B, KCNE2, TRPM4, LAMP2, KCNQ1, CACNA1D, SCN5A, HCN4, SCN1B, KCNH2, EMD , (...) View the complete list with 8 more genes Panel GTR000521476 complete gene list CAVIN4, SCN10A, GJA5, NPPA, TBX5, PRKAG2, MYH6, NKX2-5, ACTC1, SCN4B, KCNE2, TRPM4, LAMP2, KCNQ1, CACNA1D, SCN5A, HCN4, SCN1B, KCNH2, EMD, LDB3, MYH7, DES, LMNA, GLA, GAA, TTR, HFE Specificity 18 % Genes 24 %
Test for Brugada Syndrome 5. By Secugen SL in Spain. SCN1B Specificity 100 % Genes 5 %
Epilepsy, generalized with febrile seizures plus (GEFS+) 1. By Praxis fuer Humangenetik Wien in Austria. SCN1B Specificity 100 % Genes 5 %
Epilepsy with febrile seizures plus, Generalized: SCN1B gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. SCN1B Specificity 100 % Genes 5 %
EPILEPSY HEREDITARY PANEL. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. JRK, CLCN2, SCN8A, SRPX2, PRRT2, DEPDC5, KCNMA1, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, KCNQ3, KCNQ2, GABRD, SCN2A, SCN1B, SCN9A, NHLRC1, GABRB3 , (...) View the complete list with 17 more genes Panel GTR000531479 complete gene list JRK, CLCN2, SCN8A, SRPX2, PRRT2, DEPDC5, KCNMA1, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, KCNQ3, KCNQ2, GABRD, SCN2A, SCN1B, SCN9A, NHLRC1, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A2, CACNB4, KCNA1, CACNA1A, SCN1A, MT-ATP6, SLC2A1, PCDH19, CDKL5, ARX, ALDH7A1, STXBP1 Specificity 3 % Genes 5 %
Neurology: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. MAPK10, POC1A, ORC4, ORC6, CDT1, CDC6, NIN, CEP63, KNL1, CEP135, ZNF335, RTTN, DISP1, VLDLR, MYCN, RBBP8, RAB18, EOMES, CEP41, KIF7 , (...) View the complete list with 144 more genes Panel GTR000512608 complete gene list MAPK10, POC1A, ORC4, ORC6, CDT1, CDC6, NIN, CEP63, KNL1, CEP135, ZNF335, RTTN, DISP1, VLDLR, MYCN, RBBP8, RAB18, EOMES, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, RAB3GAP2, CHMP1A, ATR, PCNT, CDK5RAP2, GLI2, FOXH1, NODAL, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, EXOSC3, EHMT1, LAMC3, ACTG1, ACTB, ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, ATRX, KIF1BP, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, DCX, CENPJ, ARFGEF2, BCKDK, PRRT2, TBC1D24, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, KCNT1, GRIN2B, FOLR1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CPA6, CHRNB2, ATP1A2, ASPM, MCPH1, LARGE1, CACNB4, POMT1, POMT2, VRK1, FGF8, FKRP, AHI1, SCN1A, CSTB, TMEM216, CLN5, POMGNT1, PPT1, FKTN, CLN8, CLN6, PTCH1, TSC1, TSC2, WDR62, SLC2A1, PCDH19, MEF2C, FOXG1, DHCR7, CDKL5, ARX, CLN3, TPP1, MKS1, ALDH7A1, SLC9A6, SLC25A22, CTSD, RARS2, TUBA1A, STXBP1, GATM, GAMT, LIAS, MECP2, SLC25A19, POLG, SHH, CEP290, ADGRV1, NPHP1, TMEM67, CC2D2A, TUBB3, ADSL, UBE3A Specificity 1 % Genes 5 %
Arrhythmias: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. DSC2, RANGRF, JUP, DSG2, NKX2-5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, CACNA1C , (...) View the complete list with 9 more genes Panel GTR000558533 complete gene list DSC2, RANGRF, JUP, DSG2, NKX2-5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, TMEM43, DSP Specificity 42 % Genes 58 %
Brugada Syndrome: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. GPD1L, CACNB2, KCNE3, SCN3B, CACNA1C, SCN5A, HCN4, SCN1B Specificity 100 % Genes 39 %
Epilepsy and Seizure Disorders: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2 , (...) View the complete list with 87 more genes Panel GTR000558825 complete gene list ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, RELN, SIX3, NDE1, EMX2, DCX, CENPJ, BCKDK, TBC1D24, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CPA6, CHRNB2, ATP1A2, ASPM, MCPH1, CACNB4, KCNA1, CASR, KCNJ11, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, TSC2, WDR62, SLC2A1, SCARB2, KCNMA1, MBD5, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, FOLR1, SCN2A, SCN1B, ST3GAL5, PCDH19, MEF2C, FOXG1, CDKL5, ARX, CLN3, TPP1, NDUFA1, ALDH7A1, SLC9A6, SLC25A22, CTSD, STXBP1, GATM, GAMT, ABAT, LIAS, MECP2, SLC25A19, POLG, SHH, ADGRV1, ADSL, UBE3A, MTHFR Specificity 2 % Genes 10 %
Familial Arrhythmia Full Gene Sequencing Panel. By Integrated Genetics Westborough Integrated Genetics in United States. ATP1B1, GINS3, LIG3, NPPA, NOS1AP, DSC2, JUP, DSG2, PLN, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2 , (...) View the complete list with 10 more genes Panel GTR000530315 complete gene list ATP1B1, GINS3, LIG3, NPPA, NOS1AP, DSC2, JUP, DSG2, PLN, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, CACNA1C, KCNQ1, KCNE1, SCN5A, SCN1B, KCNH2, KCNJ2, TMEM43, CAV3, DSP Specificity 24 % Genes 34 %
Arrhythmia NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. GYG1, GJA5, NPPA, DSC2, JUP, DSG2, PRKAG2, TGFB3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3 , (...) View the complete list with 18 more genes Panel GTR000505730 complete gene list GYG1, GJA5, NPPA, DSC2, JUP, DSG2, PRKAG2, TGFB3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, TMEM43, DES, CAV3, LMNA, SLC25A20, CPT1A, DSP Specificity 32 % Genes 58 %
Sudden Death Syndrome NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. LRP6, CALR3, GJA5, NPPA, TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, RBM20, MYOZ2, JPH2, TNNT2, TPM1, JUP, DSG2, NEXN , (...) View the complete list with 48 more genes Panel GTR000510871 complete gene list LRP6, CALR3, GJA5, NPPA, TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, RBM20, MYOZ2, JPH2, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, TGFB3, MYLK2, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, FBN2, TGFBR2, LAMP2, CACNA1C, KCNQ1, KCNE1, SCN5A, SCN1B, KCNH2, KCNJ2, SGCD, TCAP, TMEM43, MYBPC3, LDB3, MYH7, DES, TTN, CAV3, PSEN2, LMNA, FKTN, TAZ, FBN1, SLC25A4, DSP, EYA4, PSEN1 Specificity 14 % Genes 43 %
Brugada Syndrome NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. GPD1L, CACNB2, KCNE3, SCN3B, CACNA1C, SCN5A, HCN4, SCN1B Specificity 100 % Genes 39 %
SCN1B. By Fulgent Genetics Fulgent Genetics in United States. SCN1B Specificity 100 % Genes 5 %
Idiopathic Generalized Epilepsy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. NIPA2, CNTN2, DHFR, CLCN2, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, ATRX, OFD1 , (...) View the complete list with 69 more genes Panel GTR000531698 complete gene list NIPA2, CNTN2, DHFR, CLCN2, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, ATRX, OFD1, CNTNAP2, TCF4, KCNJ10, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, DNAJC5, SRPX2, PQBP1, DCX, PRRT2, DEPDC5, TBC1D24, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, KCNC1, KCNQ3, KCNQ2, KCNT1, GABRD, STX1B, SCN2A, SCN1B, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, CACNB4, DYNC1H1, CASR, CACNA1A, SCN1A, CSTB, GPC3, SMC1A, SYNGAP1, SLC2A1, PLP1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, ALDH7A1, SLC9A6, STXBP1, MECP2, ME2, HSD17B10, ADSL, UBE3A Specificity 2 % Genes 5 %
Early-Onset Epileptic Encephalopathy NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. RBFOX3, KPNA7, ARHGEF15, HCN2, TNK2, SLC12A5, ACY1, KCNH5, MTOR, NEDD4L, CLCN4, ZEB2, ATP6AP2, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP , (...) View the complete list with 113 more genes Panel GTR000531702 complete gene list RBFOX3, KPNA7, ARHGEF15, HCN2, TNK2, SLC12A5, ACY1, KCNH5, MTOR, NEDD4L, CLCN4, ZEB2, ATP6AP2, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, PIGV, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NR2F1, SLC13A5, KCNB1, SIK1, DNM1, EEF1A2, HNRNPU, MAGI2, CACNA2D2, RBFOX1, MFSD8, DNAJC5, CTSF, SRPX2, QARS, ARFGEF2, BCKDK, PIGO, PRRT2, DEPDC5, TBC1D24, ALG13, SCN5A, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC35A2, STX1B, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE1, KCNH2, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, ATP1A2, CACNB4, DYNC1H1, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, ARX, SLC6A8, FARS2, WWOX, CLN3, TPP1, ALDH7A1, SLC9A6, SLC25A22, CTSD, STXBP1, GATM, GAMT, SLC25A12, LIAS, MECP2, POLG, ADGRV1, ADSL, AUH, UBE3A Specificity 2 % Genes 10 %
Atrial Fibrillation Panel. By Blueprint Genetics in Finland. SCN10A, NUP155, GATA6, TBX5, KCNA5, KCNJ5, KCNE2, RYR2, CACNB2, SCN3B, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, LDB3, LMNA Specificity 32 % Genes 29 %
Brugada syndrome type V. By Bioarray in Spain. SCN1B Specificity 100 % Genes 5 %
Generalized Epilepsy with Febrile Seizures Plus (GEFS+) type I. By Bioarray in Spain. SCN1B Specificity 100 % Genes 5 %
Brugada Syndrome Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, CACNA1C, SCN5A, HCN4, SCN1B, KCND3 Specificity 100 % Genes 53 %
Brugada Syndrome Panel. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, KCNJ8, TRPM4, CACNA1C, CACNA2D1, SCN5A, HCN4, SCN1B, KCND3 Specificity 100 % Genes 62 %
BRUGADA SYNDROME/LONG-QT/SHORT-QT/VENTRICULAR TACHYCARDIA: NGS PANEL. By Laboratorio de Genetica Clinica SL in Spain. AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, TRPM4, CACNA1C, KCNQ1, KCNE1, SCN5A , (...) View the complete list with 5 more genes Panel GTR000558286 complete gene list AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, TRPM4, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2 Specificity 57 % Genes 67 %
Generalized Epilepsy with Febrile Seizures Plus, Sequencing SCN1B Gene. By Reference Laboratory Genetics in Spain. SCN1B Specificity 100 % Genes 5 %
Familial Epilepsy and Related Disorders , Panel Massive Sequencing (NGS) 34 Genes. By Reference Laboratory Genetics in Spain. CLCN2, SCN8A, SRPX2, PRRT2, KCNMA1, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, KCNQ3, KCNQ2, GABRD, SCN2A, SCN1B, SCN9A, NHLRC1, GABRB3, LGI1, EFHC1 , (...) View the complete list with 14 more genes Panel GTR000559546 complete gene list CLCN2, SCN8A, SRPX2, PRRT2, KCNMA1, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, KCNQ3, KCNQ2, GABRD, SCN2A, SCN1B, SCN9A, NHLRC1, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A2, CACNB4, KCNA1, CACNA1A, SCN1A, SLC2A1, PCDH19, CDKL5, ARX, ALDH7A1, STXBP1 Specificity 3 % Genes 5 %
Severe Myoclonic Epilepsy (Dravet's Syndrome), Panel Massive Sequencing (NGS) 11 Genes. By Reference Laboratory Genetics in Spain. GABRG2, GABRA1, EPM2A, SCN2A, SCN1B, SCN9A, NHLRC1, EFHC1, CACNB4, SCN1A, PCDH19 Specificity 10 % Genes 5 %
SCN2B. By Institute for Human Genetics University Clinic Freiburg in Germany. SCN2B Specificity 100 % Genes 5 %
SCN2B. By Fulgent Genetics Fulgent Genetics in United States. SCN2B Specificity 100 % Genes 5 %
SCN2B Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. SCN2B Specificity 100 % Genes 5 %
SCN2B-related Brugada Syndrome. By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States. SCN2B Specificity 100 % Genes 5 %
Atrial Fibrillation via the SCN2B Gene. By PreventionGenetics PreventionGenetics in United States. SCN2B Specificity 100 % Genes 5 %
Familial Atrial Fibrillation Type 14, Sequencing SCN2B Gene. By Reference Laboratory Genetics in Spain. SCN2B Specificity 100 % Genes 5 %
Dilated & Arrhythmogenic Cardiomyopathies Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3 , (...) View the complete list with 31 more genes Panel GTR000558810 complete gene list VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, PRDM16, LAMA4, ACTC1, NEBL, CASQ2, TRDN, RYR2, PKP2, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, LMNA, PTPN11, GLA, DMD, DOLK, TAZ, RAF1, CRYAB, DSP, TTR Specificity 4 % Genes 10 %
Long QT Syndrome and Short QT Syndrome. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. SCN4B, AKAP9, SNTA1, KCNE2, CALM1, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 24 % Genes 15 %
LQTS panel. By Molecular Cardiology Laboratories Istituti Clinici Scientifici Maugeri, IRCCS in Italy. SCN4B, AKAP9, KCNE2, CALM2, CALM1, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 31 % Genes 20 %
SCN5A. By Institute for Human Genetics University Clinic Freiburg in Germany. SCN5A Specificity 100 % Genes 5 %
DCM/LVNC Sequencing Panel. By GeneDx in United States. MT-TL2, MT-TM, MT-TD, MT-TQ, MT-TH, MT-TI, MT-ND5, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, NEXN, PLN, TNNI3, TNNC1, ANKRD1, ACTC1, LAMP2 , (...) View the complete list with 17 more genes Panel GTR000520448 complete gene list MT-TL2, MT-TM, MT-TD, MT-TQ, MT-TH, MT-TI, MT-ND5, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, NEXN, PLN, TNNI3, TNNC1, ANKRD1, ACTC1, LAMP2, MT-TS2, MT-TS1, SCN5A, SGCD, TCAP, EMD, MYBPC3, LDB3, MYH7, DES, TTN, MT-ND6, MT-ND1, MT-TK, LMNA, TAZ, TTR Specificity 3 % Genes 5 %
Long QT Syndrome Sequencing Panel. By GeneDx in United States. SCN4B, AKAP9, SNTA1, KCNE2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 25 % Genes 15 %
Long QT Syndrome Del/Dup Panel. By GeneDx in United States. SCN4B, AKAP9, SNTA1, KCNE2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 25 % Genes 15 %
RhythmFirst. By Ambry Genetics in United States. SCN4B, AKAP9, SNTA1, KCNE2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 25 % Genes 15 %
SCN5A mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. SCN5A Specificity 100 % Genes 5 %
LQT Multi-Gene Package. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. KCNE2, KCNQ1, KCNE1, SCN5A, KCNH2 Specificity 20 % Genes 5 %
LMNA, MYBPC3, MYH7, SCN5A, TNNI3, TNNT2. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. TNNT2, TNNI3, SCN5A, MYBPC3, MYH7, LMNA Specificity 17 % Genes 5 %
SCN5A. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SCN5A Specificity 100 % Genes 5 %
KCNH2, KCNQ1, SCN5A. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. KCNQ1, SCN5A, KCNH2 Specificity 34 % Genes 5 %
SCN5A-Related Dilated Cardiomyopathy. By CGC Genetics in Portugal. SCN5A Specificity 100 % Genes 5 %
Long QT syndrome 3 (sequence analysis of SCN5A gene). By CGC Genetics in Portugal. SCN5A Specificity 100 % Genes 5 %
Brugada Syndrome 1 (sequence analysis of SCN5A gene). By CGC Genetics in Portugal. SCN5A Specificity 100 % Genes 5 %
Sinus node syndrome (NGS panel for 3 genes). By CGC Genetics in Portugal. MYH6, SCN5A, HCN4 Specificity 67 % Genes 10 %
Familial dilated cardiomyopathy type 1E (deletions/duplications analysis of SCN5A gene). By CGC Genetics in Portugal. SCN5A Specificity 100 % Genes 5 %
Brugada Syndrome type 1. By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States. SCN5A Specificity 100 % Genes 5 %
Long QT syndrome. By Unit for Cardiac and Cardiavasular Genetics Oslo University Hospital HF - Ullevaal in Norway. KCNE2, KCNQ1, KCNE1, SCN5A, KCNH2 Specificity 20 % Genes 5 %
Long QT Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, CALM2, CALM1, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 27 % Genes 20 %
Catecholaminergic Polymorphic Ventricular Tachycardia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CASQ2, TRDN, CALM1, RYR2, ANK2, KCNQ1, SCN5A, KCNJ2 Specificity 13 % Genes 5 %
Fetal Concerns Sequencing Panel Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. GLE1, CHRNG, KAT6B, PEX12, PEX10, PEX26, PEX6, KCNQ1, SCN5A, KCNH2, CHRND, CHRNA1, MUSK, KLHL40, RAPSN, SUMF1, SLC17A5, PEX1, DOK7, CBL , (...) View the complete list with 20 more genes Panel GTR000552126 complete gene list GLE1, CHRNG, KAT6B, PEX12, PEX10, PEX26, PEX6, KCNQ1, SCN5A, KCNH2, CHRND, CHRNA1, MUSK, KLHL40, RAPSN, SUMF1, SLC17A5, PEX1, DOK7, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, LIPA, KRAS, IDUA, HRAS, DHCR7, BRAF, GBA, GALNS, GUSB, CTSA, RAF1, GLB1, GNPTAB Specificity 3 % Genes 5 %
Long QT syndrome Comprehensive panel. By Connective Tissue Gene Tests in United States. CALM3, NOS1AP, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 22 % Genes 20 %
Long QT syndrome NGS panel. By Connective Tissue Gene Tests in United States. CALM3, NOS1AP, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 22 % Genes 20 %
Progressive familial heart block type I NGS panel. By Connective Tissue Gene Tests in United States. TRPM4, SCN5A Specificity 100 % Genes 10 %
Progressive familial heart block type I Comprehensive panel. By Connective Tissue Gene Tests in United States. TRPM4, SCN5A Specificity 100 % Genes 10 %
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) / Arrhythmogenic Right Ventricular Dysplasia (ARVD). By MGZ Medical Genetics Center in Germany. CASQ2, CALM1, SCN5A Specificity 34 % Genes 5 %
Dilated Cardiomyopathy Sequential Panel. By FirmaLab in United States. TNNT2, ACTC1, SCN5A, MYH7, TTN, LMNA Specificity 17 % Genes 5 %
Brugada Syndrome 1. By Bioscientia GmbH Center for Human Genetics in Germany. SCN5A Specificity 100 % Genes 5 %
Long QT syndrome. By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany. KCNE2, KCNQ1, KCNE1, SCN5A, KCNH2 Specificity 20 % Genes 5 %
Brugada syndrome. By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany. SCN5A Specificity 100 % Genes 5 %
Ventricular fibrillation, paroxysmal familial type 1. By Centogene AG - the Rare Disease Company in Germany. SCN5A Specificity 100 % Genes 5 %
Long QT syndrome panel. By Centogene AG - the Rare Disease Company in Germany. SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 24 % Genes 15 %
Atrial fibrillation type 10. By Centogene AG - the Rare Disease Company in Germany. SCN5A Specificity 100 % Genes 5 %
Cardiomyopathy, dilated type 1E. By Centogene AG - the Rare Disease Company in Germany. SCN5A Specificity 100 % Genes 5 %
Heart block type 1. By Centogene AG - the Rare Disease Company in Germany. SCN5A Specificity 100 % Genes 5 %
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), Paroxysmal/ Idiopathic Ventricular Fibrillation / Tachycardia Panel. By CeGaT GmbH in Germany. GNAI2, DPP6, CASQ2, TRDN, CALM2, CALM1, RYR2, ANK2, SCN5A, KCNJ2 Specificity 20 % Genes 10 %
Long QT Syndrome Panel. By CeGaT GmbH in Germany. SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, CALM2, CALM1, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 27 % Genes 20 %
BRUGADA SYNDROME 1; BRGDA1. By Duzen Laboratuvarlar Grubu Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS in Turkey. SCN5A Specificity 100 % Genes 5 %
SCN5A sequencing. By DNAbiolab Cretan Center for Research and Development of Applications on Genetics and Molecular Biology in Greece. SCN5A Specificity 100 % Genes 5 %
QT syndrome, SCN5A. By GGA - Galil Genetic Analysis in Israel. SCN5A Specificity 100 % Genes 5 %
Dilated cardiomyopathy with conduction disorders Stage 3. By Health in Code in Spain. SCN5A Specificity 100 % Genes 5 %
Long QT Syndrome Short Panel. By Health in Code in Spain. KCNE2, RYR2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2 Specificity 25 % Genes 10 %
Long QT Syndrome Panel. By Health in Code in Spain. KCNE2, RYR2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2 Specificity 25 % Genes 10 %
SCN5A-Related Disorders. By Clinical Genomics Maastricht University Medical Centre in Netherlands. SCN5A Specificity 100 % Genes 5 %
Long QT Syndrome 3. By Clinical Genomics Maastricht University Medical Centre in Netherlands. SCN5A Specificity 100 % Genes 5 %
Invitae Left Ventricular Noncompaction Panel. By Invitae in United States. VCL, TNNT2, TPM1, PLN, TNNI3, ACTC1, RYR2, LAMP2, SCN5A, HCN4, MYBPC3, MYH7, LMNA, TAZ, DSP Specificity 14 % Genes 10 %
Invitae Long QT Syndrome Panel. By Invitae in United States. CALM3, KCNE2, TRDN, CALM2, CALM1, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 24 % Genes 15 %
Dilated cardiomyopathy: SCN5A gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. SCN5A Specificity 100 % Genes 5 %
CARDIOMYOPATHY, DILATED (DCM. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. TMPO, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, LAMP2, SCN5A, SGCD, TCAP, MYBPC3 , (...) View the complete list with 12 more genes Panel GTR000531425 complete gene list TMPO, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, LAMP2, SCN5A, SGCD, TCAP, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, PSEN2, LMNA, DMD, TAZ, EYA4, PSEN1, TTR Specificity 4 % Genes 5 %
Catecholaminergic Polymorphic Ventricular Tachycardia. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. CASQ2, TRDN, CALM1, RYR2, ANK2, SCN5A, KCNJ2 Specificity 15 % Genes 5 %
Long and Short QT Syndrome: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. SCN4B, AKAP9, SNTA1, KCNE2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 25 % Genes 15 %
Sudden Cardiac Arrest (SCA): Sequencing and Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. CASQ2, KCNE2, RYR2, ANK2, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 10 % Genes 5 %
Long QT syndrome NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 24 % Genes 15 %
Long QT Syndrome (LQTS) Panel. By Blueprint Genetics in Finland. TECRL, CALM3, NOS1AP, AKAP9, KCNJ5, KCNE2, CALM2, CALM1, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 25 % Genes 20 %
Brugada syndrome type I. By Bioarray in Spain. SCN5A Specificity 100 % Genes 5 %
Cardiomyopathy, dilated type 1E. By Bioarray in Spain. SCN5A Specificity 100 % Genes 5 %
Long QT syndrome type III. By Bioarray in Spain. SCN5A Specificity 100 % Genes 5 %
Long QT Syndrome Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 24 % Genes 15 %
Long QT Syndrome NGS and Deletion/Duplication Panel. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. CALM3, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 18 % Genes 15 %
Brugada Syndrome Panel by NGS. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. SCN5A Specificity 100 % Genes 5 %
Long QT Syndrome Panel by NGS. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, CALM2, CALM1, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 27 % Genes 20 %
Ventricular Fibrillation, Familial Panel by NGS. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, CALM2, CALM1, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 27 % Genes 20 %
Arrhythmogenic Right Ventricular Cardiomyopathy Panel by NGS. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. DSC2, JUP, DSG2, PLN, TGFB3, RYR2, PKP2, SCN5A, TMEM43, DES, TTN, LMNA, DSP Specificity 16 % Genes 10 %
Long QT Syndrome Type 3 , Sequencing SCN5A Gene. By Reference Laboratory Genetics in Spain. SCN5A Specificity 100 % Genes 5 %
Dilated Cardiomyopathy, Sequencing SCN5A Gene. By Reference Laboratory Genetics in Spain. SCN5A Specificity 100 % Genes 5 %
Dilated Cardiomyopathy, Panel Massive Sequencing (NGS) 30 Genes. By Reference Laboratory Genetics in Spain. VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ACTC1, LAMP2, SCN5A, SGCD, TCAP, MYBPC3, BAG3, LDB3 , (...) View the complete list with 10 more genes Panel GTR000559545 complete gene list VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ACTC1, LAMP2, SCN5A, SGCD, TCAP, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, PSEN2, LMNA, DMD, TAZ, EYA4, PSEN1, TTR Specificity 4 % Genes 5 %
Long QT Syndrome , Panel Massive Sequencing (NGS) 11 Genes. By Reference Laboratory Genetics in Spain. SCN4B, AKAP9, SNTA1, KCNE2, ANK2, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 19 % Genes 10 %
Long QT syndrome 3. By Labor Dr. Wisplinghoff in Germany. SCN5A Specificity 100 % Genes 5 %
Tempus xO assay. By Tempus Labs, Inc. in United States. SETD6, PIM3, MAP3K10, PDGFA, MAP3K11, PAK2, KHSRP, WASL, CASC11, GLIS1, NRG2, SOX21, SMARCC1, CUL4A, UTY, WNT9A, TEF, CHIC1, TRIM28, CDK11B , (...) View the complete list with 1693 more genes Panel GTR000558444 complete gene list SETD6, PIM3, MAP3K10, PDGFA, MAP3K11, PAK2, KHSRP, WASL, CASC11, GLIS1, NRG2, SOX21, SMARCC1, CUL4A, UTY, WNT9A, TEF, CHIC1, TRIM28, CDK11B, JUND, CKS2, FGF21, VGLL2, MAPK11, BMX, PBX3, KDM5D, PRRX2, GFRA4, ASCL5, VEGFD, SMARCD1, EPHA6, MAPK12, HDGFL3, SMYD2, TRIM24, E2F5, CDX1, RELB, PPP6C, ZNRF3, FOXQ1, TBC1D12, YEATS4, POU2F2, PDPK1, CES1, USP9Y, ICOSLG, NKX2-8, MTCP1, HOXD11, TLX1, CCDC6, CBFA2T3, OLIG2, HLF, MLLT6, TAL2, HOXC11, LMO2, RAP1GDS1, MDS2, LYL1, SFPQ, WIF1, TRIM33, MAPK3, GID4, ZNF703, MEF2B, AURKA, TOP1, MAP3K6, FGF4, SMARCA1, SUZ12, NCOR2, FGF19, HES1, RHOA, BCL2L1, H3F3A, KLF4, CDK13, BCL11B, HLA-A, NUTM2B, NUTM2A, SSX2, ETV4, TFEB, SSX4, NR4A3, MSI2, CREB3L2, TFE3, FOXO1, ETV1, BCL3, SET, BTG1, ADGRA2, ADGRL3, AHR, AFF1, ABCC1, AATK, ACVR2A, ACSL6, ACVR1B, ADAMTS20, ADGRB3, ADGRL2, PTPN6, PTPRD, RABEP1, PSPN, PTPN2, PTPN21, PTPRK, PTPRM, PTK2B, PTK2, PTGS2, RAD51AP1, PSIP1, PTPRG, PTTG1, PTGS1, PTPRR, RAD51B, PTPRJ, RBM14, RAD52, PTK7, PRSS8, PTK6, RAB25, SETD1B, SHB, RUNX3, RPS6KB1, SKIL, SGK1, RUVBL1, RIPK2, SETDB2, SGO2, SFRP1, RHOT1, SETD7, SLC22A3, SGO1, SF1, RNF40, SF3A1, RELA, RIPK1, SLC22A2, SHC4, SHC1, SETD4, SLC22A6, SH3GL1, ROCK2, SLC22A1, SKP2, SAV1, RSPO3, RHEB, RHOB, REC8, SETMAR, ROCK1, SETDB1, REL, SLC15A2, RPS6KB2, RPA1, SETD3, SETD9, RYK, RIPK3, SKOR1, RSPO2, TAOK3, SLC47A1, SMC2, SSTR3, SLC47A2, STAT6, SUV39H1, SMAD5, SSTR1, SMC6, STK36, TCF7L1, TEC, SMYD3, STARD3, SMYD5, SMC4, SUV39H2, TAOK2, SYK, TCL1A, SPDEF, SMC1B, TAOK1, SLCO2B1, TEAD3, STK19, SMARCA5, SSTR2, TEAD4, SPOPL, SP3, TAF1L, STYK1, SPEN, SLIT2, SOCS1, SLCO1A2, SMC5, TET3, SMYD4, TENM2, TEAD2, SP140L, SPI1, TERF1, STAT5A, SPRED2, SP140, TCF7, PRDM15, E2F1, CEBPB, AREG, PRKACB, PBX4, KAT5, FGF13, NFKBIB, PGF, SRMS, BBC3, SMURF1, FOSB, GUCY1A2, PHLPP1, SSTR4, ARTN, WNK2, INSRR, BUB3, CBX7, SHC3, IL13RA1, HES4, CEBPD, NFIC, IL9R, TCL1B, IL2RB, HDAC5, FKBP9, ZNF444, FGF22, ID4, SMYD1, RBMX, PRMT2, NFATC2, ZC3H12D, VGLL3, GSTT1, SPRY3, FOSL1, RBMXL1, GSK3A, ARHGAP10, WNT9B, NTF3, SPIB, SMARCD3, TNKS2, IL15RA, FGF11, RARG, VGLL4, SPRED3, SHC2, CARM1, ALKBH6, IL3RA, MAPK13, NRG4, CBX3, PDS5A, DACH2, BTG3, NKX2-4, HES2, ASCL2, MAPK14, SPOP, TFEC, SSX1, SS18, SOX8, SP100, SULT1A1, SMURF2, KMT5C, STAT4, SRGAP3, SPIC, SSX3, TBX2, ELOC, WNT11, TLR7, NSD3, WNT2B, ZNF668, ZNF471, ZC3H7B, TLK2, TLR8, WNT2, ZMYND8, WNT5B, WNT8B, TGFA, WNT7B, WWTR1, WNT16, TLR10, ZNF607, WISP1, YWHAB, WNT6, YWHAH, ZBTB33, XIRP2, XPO1, YES1, YY1, ZNF704, ZBTB7B, ZNF217, WAPL, TLX2, VHLL, VAV2, TNFRSF17, TRAF7, UBE2D2, TXK, TNK1, TRIB3, TRAF3IP3, TYRO3, UHRF2, TP53BP1, TLR9, TRRAP, TRIB2, TNFRSF14, UBE4A, TPTE, TOP2A, UGT1A4, TRAF1, VEGFB, UBE2D1, U2AF2, VGLL1, TMPRSS2, UBE2D4, TSHZ3, VAV3, TRIM66, TOP2B, VTCN1, UHRF1, PRMT5, PIK3C2G, PRDM10, PLAG1, PLCG1, PIK3R4, PRDM4, PRMT8, PRCC, PRMT3, PIK3C2B, PNRC1, PRKCI, PRDM14, PLK2, POU6F1, PREX2, PPP1R1C, PRDM11, PRDM7, PLAGL2, PRSS3, PIK3R3, PRDM6, PPFIA1, PPARD, PRMT6, POU5F1B, PIK3C2A, POU2AF1, PLK3, POU5F2, PIM1, PMAIP1, PRDM2, PRMT1, PLK1, POU5F1, PIM2, PRDM1, PIK3C3, PHLPP2, HLTF, HEY2, HIST1H3B, HIF1AN, HDAC1, HBEGF, HDGF, HDAC3, HDAC9, HEY1, GTPBP4, HIST1H1E, HDAC10, HIST1H4E, HDAC2, HIF1A, HDAC11, HCK, HDAC7, IL18RAP, AJUBA, JADE1, HOXD3, IKZF2, ID1, JUNB, IL1R2, IQGAP3, KDM2A, IKBIP, IL5RA, PVT1, PTPRB, KDM7A, IL1RAP, HOXD4, KAT8, KDM3B, ID3, KDM2B, KDM4D, IL12RB2, JAK1, KAT2A, JUN, KLF5, KDM4C, IRAK1, HOXA10, KDM1B, KAT7, HOXC10, INTS12, KMT5A, IRS4, HSPBAP1, JMJD7, IL1R1, KDM8, MAP3K21, JMJD8, ING4, HOXA9, IL20RA, HOXB3, KDM5B, KDM4B, IL6ST, JAZF1, ING1, IQGAP2, INPP4B, IL17RB, KDM3A, KLF12, KMT2E, IL3, IQGAP1, JMJD6, IFNLR1, ID2, IL22RA2, IL22RA1, IKZF3, HSP90AB1, HSP90AA1, HNRNPA3, KDM4A, ITPKB, IL20RB, JMJD4, JARID2, ARPC1B, BAZ1B, BAG4, LTK, ASPSCR1, APEX1, LRP1B, BAZ1A, LEF1, LGR6, LGR5, APH1A, LPP, LSM1, ARNT, BAZ2A, BCL2L11, BAZ2B, BACH2, LMO7, LMTK2, ASXL2, ARHGAP35, LMTK3, ARPC1A, BACH1, ATAD2, BCL2L2, AURKB, LMO1, ATF1, LATS1, BCAR3, ASCL3, ASCL4, LDB1, ASH2L, ATAD2B, LATS2, ARFRP1, LGR4, ARHGAP26, BABAM1, BCL2A1, MPG, BIRC8, MGA, MOB1B, MLLT11, MAP2K5, MINK1, MAP2K3, MAST1, MAPK6, MAP4K2, BPTF, BUB1, MAP3K13, MAST2, MDM4, MLLT10, MAML1, MATK, MAP3K9, MAP2K4, MAGED1, MAP4K3, BCL9, MAP4K5, BRD3, BTRC, MAP2K7, MOB1A, MRTFA, BIRC2, MAPK7, BTC, MCL1, MAP3K19, MAML3, MOS, MAP3K2, MAPK15, MAP3K12, BCLAF1, BRWD1, BRD7, MED12L, BRD8, EMSY, MAML2, BIRC5, BRD9, BID, MAP4, TIE1, ZNF521, TLK1, ZBTB5, WNT3A, ZNF639, YWHAZ, TLR6, WNT8A, YWHAQ, ZC3H12A, ZCCHC7, TPTE2, TNKS, UBE2D3, TLX3, TRAF2, MAPK4, BMI1, MLST8, MAP4K4, BCL7A, MAPK9, MED29, MRTFB, MAP3K5, BRD1, BRPF3, BTG2, MAD2L1, BRPF1, MAP3K15, MAP3K4, MAP4K1, MAU2, MAP2K6, NR4A1, NUTM2F, NUTM1, CAPRIN2, CHD5, MST1R, ODC1, MST1, CMPK1, NUTM2G, CHEK1, NUMBL, CHD9, CADM2, MSH4, CARD6, CHIC2, E2F3, DVL2, ELF2, ELF3, PHF1, EPHA7, FAT3, FEV, FGR, ETV3L, FGF6, FBXO8, ESPL1, ESCO1, EREG, FBXO11, ETS2, ETV7, EZH1, FGF7, FGF1, ESRRA, ERG, ETV3, FES, FER, FHIT, FEN1, EXTL1, FAT2, TENT5C, FGF18, FGF5, ETV2, ETS1, FGF2, FOXM1, FOXA3, FOXL1, FOXN3, FOXO4, FOXP4, FRS2, GABPA, FZR1, FOSL2, FYN, FOS, FRS3, FOXO3, FRK, GAB1, FUBP1, FLT3LG, NFKBIZ, NCOA2, CD274, NCOR1, CBX1, CEBPG, CDK15, NPPB, NEK11, CDK18, NCOA1, CD86, CDH10, MTDH, CD276, NFATC3, CDK1, NAB1, CDC42, CDK8, NEK4, CCND3, CDK10, CDKN1A, CDH20, NEK6, NEK7, NFIB, NKX3-1, CD1D, CD22, CDK3, CECR2, NFATC1, NQO1, CDKN3, NCK1, NKX2-3, MYB, CBX4, CDK20, CDH11, CEBPZ, CDH5, NEK5, CDK7, CDK2, CCNL1, CCNB3, CBX6, CDK14, CES2, CD28, NFATC4, CBX5, CD80, CDX2, CDC25C, CDK17, CDK9, NCOA3, NFKBID, NOTCH4, NCK2, IKBKE, IL18R1, NPR1, CDH2, CDC25B, NOTCH2NLA, CDC25A, NEK3, CCNE2, NFKBIE, NEK10, CDC20, MYBL1, NAB2, CBX8, CBFA2T2, MYOD1, GRB2, GPS2, GRK4, GSK3B, GRM8, GRK5, GRM3, GRB7, PTGIS, RAD54B, RAD54L, SSTR5, TCF7L2, PPM1D, POU6F2, NR4A2, PRKACA, MAD1L1, ALOX5, ZNF750, EPHB2, TLR2, SMAD7, MIPOL1, IL6R, IRF5, PGR, HMGA2, IRS1, IRF4, HMGA1, IRS2, IL4R, IL23R, GLCCI1, FKBP5, CREB1, CSNK1D, CD44, CHUK, ABCG2, PAK5, BAX, HSD3B1, HTR2A, TBL1X, RBM15, FOLH1, FOXA1, FOXA2, TRAF6, PIK3CG, CRKL, PIK3CB, MAPK1, GAB2, CRK, SPRY2, DOCK2, MAP3K14, IL17RC, PAX7, SEM1, SOX1, EPHB4, TRIB1, PPARA, PERP, SMAD1, ESR2, PRDM9, RBMXL2, CHD1, PAX1, RHOH, SP110, FGF16, DRD1, PRKAR1B, TAF15, EWSR1, ELP3, UBR5, AXIN1, ADRB1, SLC19A1, MYBL2, PTPRT, EGR1, ABI1, CRLF2, MLF1, INHBA, ARNT2, IKBKB, LCK, TLR5, XBP1, YAP1, CDK11A, CYP2B6, PHIP, ADAM17, KLF6, BCL10, CYP3A5, RRM1, NTF4, ESR1, SS18L1, STAG1, CRHR1, PEAR1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, GNA13, EML4, BRD4, ARAF, NFE2L2, KEAP1, NRG1, CCNE1, IGF2, ELK1, BRD2, GLI1, STAT2, DACH1, MXD1, PRKD1, RAC1, RICTOR, EIF1AX, NRIP1, CHD3, NRG3, CARD10, CNOT3, NUP98, NUMB, CHD6, CNTFR, CSF1, CTSL, CRTC1, CRTC3, CSNK1E, COPS3, CTSS, CSK, CREM, CREB3L4, CTCFL, CRTC2, PAK1, PARP4, DCUN1D1, DDX6, PATZ1, DDR1, PDGFC, PARP2, PAK4, PAK6, DIS3, PCBP1, CYP2J2, PAXIP1, PBX2, DDX5, DIRAS3, PDCD1, PBRM1, DDIT3, DAXX, CYP2C8, DCUN1D2, PDGFD, PDCD1LG2, EPHB1, ELK4, ELF5, E2F6, EPHA3, E2F7, EBF1, DOT1L, EPHA1, ELF1, ELK3, DYRK2, PEG3, EPHB6, EHF, EPHA5, PHF2, EHMT2, EPHA8, EPHA4, DMXL1, EPGN, EPHB3, PDS5B, DNMT3L, ECT2L, ELF4, PARP1, SETD1A, KDM5A, CNKSR1, KDM6B, TRAF3IP1, CTNND1, DVL3, EED, TBX22, NKX2-6, ERBB4, JMJD1C, PPP2R1A, HDAC6, KAT2B, KMT5B, ASH1L, TRIO, MAP3K7, CIC, MAPK8, TET1, CHD4, BRDT, CBX2, PRLR, BCL11A, SMARCD2, KDM1A, AXL, PRDM13, NRTN, NONO, PRDM12, WNT4, ROR2, DNMT3B, DHH, HOXA13, ESCO2, CCND2, ZNF423, ZBTB20, MNX1, NKX2-2, IL2RA, NFIA, WNT5A, NTRK2, PRMT7, SAMD9, CARD11, POT1, TRAF3, EPOR, NOTCH2, TYK2, PRKDC, IL10RB, ICOS, PIK3R1, VKORC1, IL10RA, CTLA4, ABCC2, NFKB2, STK4, IL12RB1, CIITA, AIP, FADD, NFKBIA, PIK3CD, BCR, PTPRC, STAT5B, RAC2, GFI1, G6PC3, ITK, FASLG, XIAP, ELANE, FAS, EXT1, EXT2, AKT1, AKT3, PIK3R2, INSR, GNA11, AXIN2, POLE, ABRAXAS1, ZAP70, IL7R, CD40LG, CD40, CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, EGFR, TPMT, NPM1, FLT3, RARB, GFI1B, HOXA11, TBXAS1, GNAQ, GGCX, GATA6, GLIS3, BLK, PAX4, AKT2, ABCA1, ABCG1, GREM1, POLD1, APOB, PCSK9, APOA1, ACVR2B, SLC6A3, DRD2, HMGCR, CSF1R, IL11RA, MYCN, PIK3CA, GLIS2, NEK8, USB1, THPO, ERCC4, VEGFA, DIAPH2, TLR1, BDNF, SLC6A4, STK3, CDKN1B, BAP1, XRCC2, CYP2D6, FANCD2, FANCI, FANCL, FANCM, SLX4, CYP2C19, FANCE, FANCF, FANCG, FANCA, KITLG, NOD2, SMAD2, CREB3L1, WNT1, NR3C2, GNAS, NOP10, NHP2, DBH, CALR, MGMT, SH2B3, JAK3, ASXL1, KIT, EP300, ACE, MBD1, MBD3, WNK3, PRSS1, FGF10, SH2D1A, FLT4, TEK, VEGFC, NT5C2, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, HELLS, SMARCE1, ARID2, ERBB3, RIPK4, NEK9, NEK2, MYL3, MYL2, DSC2, TNNT2, TPM1, JUP, DSG2, PRKAG2, TNNI3, NKX2-5, PRDM16, ACTC1, NKX2-1, CSF2RB, CSF2RA, SMAD9, TERT, BMPR1B, TERC, MAF, CDH3, CTNNA1, TFG, KDM6A, TP63, AKAP9, KCNJ5, RYR2, MITF, PKP2, CACNB2, GLI3, EZH2, NFIX, DNMT3A, ACVR1, PRDM5, MYH11, ACTA2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, ATR, GLI2, ABCB1, MTOR, SPRED1, SOX9, TWIST1, POR, RAB23, CDK16, ZMYM3, KLF8, SOX3, TAF1, BRWD3, RBM10, USP9X, DKC1, FANCB, AFF2, PHF8, FOXP3, RASA1, RPL5, GATA1, KAT6B, FAT4, LZTR1, CTNNB1, ARID1B, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, DIAPH3, ROR1, GATA3, FGF3, CDC14A, PTPRQ, KCNQ1, SOX10, PAX3, DNMT1, DIAPH1, ERCC3, ERCC2, HGF, ZEB2, PICALM, ROBO2, IL17RA, TRAF3IP2, DEK, MSH3, PML, AURKC, MAFB, SOX17, EGF, PALLD, CTNNA2, RNF213, DDR2, MDM2, WNT10B, IGF1R, ETV5, MLH3, FBXW11, MALT1, SMAD6, IL21R, NFKB1, ABL2, DUSP22, DDB2, MTAP, CEBPE, ARID5B, PRPF40B, CDK12, TBX3, HDAC4, BCL2, SLC26A3, CCND1, IGF1, NR3C1, TWIST2, TMC8, CYP1A2, TMC6, FGF9, HR, XPC, RBPJ, MAP3K3, CDK19, HOXA3, GRB10, KAT6A, DDX3X, HOXB13, DHFR, KEL, HLA-B, HOXD10, NGF, CYP2C9, CD79B, CD79A, BLNK, VAV1, SLCO1B3, SLCO1B1, LIFR, WNK4, CUL3, GDNF, ASCL1, B2M, KDSR, GATA5, PLCG2, HTR1A, CARD8, PSENEN, LYN, NCSTN, TNFAIP3, ZNF384, WNT10A, KDR, FLT1, NLRP1, FLG, CTNNA3, CYLD, ALOX12B, NKX3-2, HOXD13, NSD2, GALNT12, BUB1B, RAD51, PRDM8, XPA, MAPK10, FGF12, ERCC5, CAMTA1, KMT2B, PDGFB, PDGFRB, DICER1, CDH7, CYP2R1, PAX8, ASXL3, PLAGL1, WRN, PLK4, CDC6, TCF12, ERF, CRBN, CTCF, CLIP1, SETD5, ZMYND11, CDK6, CENPE, FLI1, RUNX1T1, SRC, CDK5, FGF17, MAMLD1, FSHR, NEK1, ICK, IRF6, MAP3K1, WNT7A, SETBP1, CUL4B, KDM5C, PAK3, PHF6, ATRX, TCF4, TBL1XR1, SETD2, MAGI2, KMT2D, SCN5A, GRIN2A, CHD2, KCNH2, MCPH1, FGF14, MUSK, SMCHD1, TMEM43, SYNE1, MYBPC3, FUS, RYR1, CACNA1S, PDK1, MYH7, FGF23, GHR, CYP21A2, HSD11B2, FGF8, GNRHR, LHCGR, FGFR1, NR0B1, LRRK2, NF1, TBP, PPP2R2B, NOTCH3, PSEN2, WNK1, NTRK1, LMNA, DNM2, EGR2, NDRG1, DPYD, PKHD1, BTK, WAS, MPL, UGT1A1, G6PD, RAD51D, PMS1, BARD1, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, NSD1, NIPBL, TSC1, SMC1A, SMC3, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, VDR, TINF2, SOS1, SHOC2, RUNX2, PTPN11, NRAS, MAP2K1, LEPR, LDLR, KRAS, HRAS, GLA, FOXG1, CREBBP, CHD7, BRAF, BLM, FANCC, ELP1, ARX, AR, FGFR3, TSHR, IL2RG, SDHA, MAK, TEAD1, PHB, PLA2G2A, PAX2, MEN1, STAT3, TMEM127, ZFHX3, NCOA4, CYP17A1, SOX2, PPP2R1B, PRKN, BCOR, AMER1, MAOA, PHOX2A, CTSD, HAX1, SDHB, IDH2, MERTK, PRPF6, GOT1, CHD1L, CD70, MAD2L2, MAP3K8, PRRX1, NUP93, FAT1, TNK2, GPC5, RXRA, CYP4F2, CYP2A6, TBX18, DVL1, RNF43, DCC, OSMR, HOXC13, IHH, IGF2R, CDKN2C, CKS1B, MECOM, RPN1, BIRC3, MYC, BCL6, LRP6, SMO, YWHAE, PTCH2, FGF20, PTPRF, CDKN2B, MLLT1, EPHA2, MLLT3, NAT2, MN1, ADRB2, NUP214, CYP3A4, AFF3, TAL1, ZBTB16, PBX1, TCF3, RARA, ERCC1, PAX9, CBFB, ERBB2, WNT3, FBN1, FH, RAF1, SDHC, KIF1B, DSP, SHH, COMT, CASP8, MC1R, RET, HNF1B, SDHAF2, PSEN1, RB1, TLR4, TGFB1, PAX6, WT1, STAT1, COL3A1, LRP5, PPARG, HNF1A, FOXL2, FKBP10, ABCB4, ABCB11, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 1 % Genes 24 %
Long QT Syndrome Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 23 % Genes 20 %
Long QT Syndrome Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, CALM1, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 22 % Genes 15 %
Targeted CM panel. By Molecular Cardiology Laboratories Istituti Clinici Scientifici Maugeri, IRCCS in Italy. DSC2, TNNT2, TPM1, JUP, DSG2, NEXN, TNNI3, PKP2, SCN5A, TMEM43, MYBPC3, LDB3, MYH7, LMNA, DSP Specificity 14 % Genes 10 %
Long QT Syndrome Gene Sequencing & Del/Dup Panel. By GeneDx in United States. SCN4B, AKAP9, SNTA1, KCNE2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 25 % Genes 15 %
Cardiomyopathy NGS Multi-Gene Panel (50 genes), Sequence & CNV analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. CALR3, MIB1, ALPK3, CTNNA3, FHL2, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN , (...) View the complete list with 31 more genes Panel GTR000500470 complete gene list CALR3, MIB1, ALPK3, CTNNA3, FHL2, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, PRDM16, LAMA4, ACTC1, PKP2, LAMP2, SCN5A, HCN4, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, GLA, TAZ, CRYAB, DSP, TTR Specificity 6 % Genes 15 %
CAV3, KCNE1, KCNE2, KCNH2, KCNQ1, SCN5A. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. KCNE2, KCNQ1, KCNE1, SCN5A, KCNH2, CAV3 Specificity 17 % Genes 5 %
SCN5A. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SCN5A Specificity 100 % Genes 5 %
SCN5A-Related Disorders. By CGC Genetics in Portugal. SCN5A Specificity 100 % Genes 5 %
Long QT syndrome (NGS panel for 14 genes). By CGC Genetics in Portugal. ALG10, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 22 % Genes 15 %
Familial dilated cardiomyopathy type 1E (deletions/duplications analysis of SCN5A gene). By CGC Genetics in Portugal. SCN5A Specificity 100 % Genes 5 %
Brugada Syndrome 1 via the SCN5A Gene. By PreventionGenetics PreventionGenetics in United States. SCN5A Specificity 100 % Genes 5 %
Long QT syndrome Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. CALM3, NOS1AP, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 22 % Genes 20 %
Progressive familial heart block type I Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. TRPM4, SCN5A Specificity 100 % Genes 10 %
Brugada Syndrome. By Molecular Genetics Laboratory BC Children's and BC Women's Hospitals in Canada. SCN5A Specificity 100 % Genes 5 %
SCN5A-Related Disorders. By Bioscientia GmbH Center for Human Genetics in Germany. SCN5A Specificity 100 % Genes 5 %
Long QT syndrome type 3. By Centogene AG - the Rare Disease Company in Germany. SCN5A Specificity 100 % Genes 5 %
Sick sinus syndrome. By Centogene AG - the Rare Disease Company in Germany. SCN5A Specificity 100 % Genes 5 %
Brugada syndrome type 1. By Centogene AG - the Rare Disease Company in Germany. SCN5A Specificity 100 % Genes 5 %
Sudden infant death syndrom. By Centogene AG - the Rare Disease Company in Germany. SCN5A Specificity 100 % Genes 5 %
SCN5A-Related Disorders. By MVZ Dortmund Dr. Eberhard & Partner in Germany. SCN5A Specificity 100 % Genes 5 %
Brugada Syndrome 1. By MVZ Dortmund Dr. Eberhard & Partner in Germany. SCN5A Specificity 100 % Genes 5 %
Brugada Syndrome 1. By MVZ Dortmund Dr. Eberhard & Partner in Germany. SCN5A Specificity 100 % Genes 5 %
Long QT Syndrome 3. By MVZ Dortmund Dr. Eberhard & Partner in Germany. SCN5A Specificity 100 % Genes 5 %
Sick-Sinus-Syndrome 1. By MVZ Dortmund Dr. Eberhard & Partner in Germany. SCN5A Specificity 100 % Genes 5 %
Long QT Syndrome. By Asper Biogene Asper Biogene LLC in Estonia. SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, CALM1, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 22 % Genes 15 %
Long QT syndrome, SCN5A sequencing. By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea. SCN5A Specificity 100 % Genes 5 %
SCN5A gene sequencing. By Health in Code in Spain. SCN5A Specificity 100 % Genes 5 %
Standard Long QT syndrome Stage 1. By Health in Code in Spain. KCNE2, KCNQ1, KCNE1, SCN5A, KCNH2 Specificity 20 % Genes 5 %
Catecholaminergic Polymorphic VT Panel. By Health in Code in Spain. CASQ2, TRDN, CALM2, CALM1, RYR2, ANK2, SCN5A, KCNJ2 Specificity 25 % Genes 10 %
Arrythmogenic Cardiomyopathy Panel. By Health in Code in Spain. CTNNA3, DSC2, JUP, DSG2, PLN, TGFB3, CASQ2, RYR2, PKP2, SCN5A, TMEM43, LDB3, FLNC, DES, TTN, LMNA, DSP Specificity 12 % Genes 10 %
Arrhythmogenic cardiomyopathy. By Health in Code in Spain. PPP1R13L, PERP, PKP4, CTNNA3, DSC2, JUP, DSG2, PLN, TGFB3, CASQ2, RYR2, PKP2, CTNNB1, SCN5A, TMEM43, LDB3, FLNC, DES, TTN, LMNA , (...) View the complete list with 1 more genes Panel GTR000530647 complete gene list PPP1R13L, PERP, PKP4, CTNNA3, DSC2, JUP, DSG2, PLN, TGFB3, CASQ2, RYR2, PKP2, CTNNB1, SCN5A, TMEM43, LDB3, FLNC, DES, TTN, LMNA, DSP Specificity 10 % Genes 10 %
Catecholaminergic polymorphic ventricular tachycardia panel. By Health in Code in Spain. CALM3, CASQ2, TRDN, CALM2, CALM1, RYR2, ANK2, SCN5A, KCNJ2 Specificity 23 % Genes 10 %
Brugada Syndrome 1. By Clinical Genomics Maastricht University Medical Centre in Netherlands. SCN5A Specificity 100 % Genes 5 %
SCN5A-Related Dilated Cardiomyopathy. By Clinical Genomics Maastricht University Medical Centre in Netherlands. SCN5A Specificity 100 % Genes 5 %
SCN5A Gene Sequencing. By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia. SCN5A Specificity 100 % Genes 5 %
Invitae Arrhythmogenic Cardiomyopathy Panel. By Invitae in United States. DSC2, ACTN2, RBM20, TNNT2, JUP, DSG2, PLN, PRKAG2, TNNI3, RYR2, PKP2, SCN5A, EMD, TMEM43, FLNC, DES, TTN, LMNA, DSP Specificity 11 % Genes 10 %
Brugada syndrome: SCN5A gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. SCN5A Specificity 100 % Genes 5 %
Long QT syndrome type 3: SCN5A gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. SCN5A Specificity 100 % Genes 5 %
SCN5A. By Fulgent Genetics Fulgent Genetics in United States. SCN5A Specificity 100 % Genes 5 %
Long QT syndrome type III. By Bioarray in Spain. SCN5A Specificity 100 % Genes 5 %
SCN5A Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. SCN5A Specificity 100 % Genes 5 %
iGene Cardiac Panel. By ApolloGen, Inc. in United States. APOB, PCSK9, MYL3, TNNT2, TPM1, DSG2, PRKAG2, TNNI3, ACTC1, RYR2, PKP2, KCNQ1, SCN5A, KCNH2, MYBPC3, MYH7, TTN, LMNA, LDLR, GLA , (...) View the complete list with 2 more genes Panel GTR000525920 complete gene list APOB, PCSK9, MYL3, TNNT2, TPM1, DSG2, PRKAG2, TNNI3, ACTC1, RYR2, PKP2, KCNQ1, SCN5A, KCNH2, MYBPC3, MYH7, TTN, LMNA, LDLR, GLA, DSP, COL3A1 Specificity 10 % Genes 10 %
SCN5A Gene, entire coding region or targeted variant. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. SCN5A Specificity 100 % Genes 5 %
Channelopathies. By Cardiovascular Genetics PO San Francesco-NUORO (IT) in Italy. KCNQ1-AS1, CASQ2, RYR2, SCN5A, KCNH2 Specificity 20 % Genes 5 %
FAMILIAL DILATED CARDIOMYOPATHY. By Laboratorio de Genetica Clinica SL in Spain. TMPO, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, SCN5A, TCAP, MYBPC3, BAG3, LDB3 , (...) View the complete list with 5 more genes Panel GTR000553650 complete gene list TMPO, VCL, CSRP3, ACTN2, RBM20, TNNT2, TPM1, DSG2, NEXN, PLN, MYH6, TNNI3, TNNC1, ANKRD1, ACTC1, SCN5A, TCAP, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, LMNA, EYA4 Specificity 4 % Genes 5 %
LONG QT SYNDROME, ROMANO-WARD SYNDROME. By Laboratorio de Genetica Clinica SL in Spain. KCNE2, KCNQ1, KCNE1, SCN5A, KCNH2 Specificity 20 % Genes 5 %
Brugada Syndrome Type 1 , Sequencing SCN5A Gene. By Reference Laboratory Genetics in Spain. SCN5A Specificity 100 % Genes 5 %
Phosphorus Long QT Syndrome Panel. By Phosphorus Diagnostics LLC in United States. CALM3, SCN4B, SNTA1, KCNE2, TRDN, CALM2, CALM1, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, KCNH2, KCNJ2, CAV3 Specificity 20 % Genes 15 %
Phosphorus Arrhythmogenic Cardiomyopathy Panel. By Phosphorus Diagnostics LLC in United States. DSC2, ACTN2, RBM20, TNNT2, JUP, DSG2, PLN, PRKAG2, TNNI3, TGFB3, RYR2, PKP2, SCN5A, EMD, TMEM43, LDB3, DES, TTN, LMNA, DSP Specificity 10 % Genes 10 %
Phosphorus Left Ventricular Noncompaction Panel. By Phosphorus Diagnostics LLC in United States. VCL, ACTN2, TNNT2, TPM1, PLN, TNNI3, ACTC1, RYR2, LAMP2, SCN5A, HCN4, MYBPC3, LDB3, MYH7, LMNA, TAZ, DSP Specificity 12 % Genes 10 %
SCN3B. By Institute for Human Genetics University Clinic Freiburg in Germany. SCN3B Specificity 100 % Genes 5 %
Brugada Syndrome via SCN3B Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. SCN3B Specificity 100 % Genes 5 %
Brugada Syndrome 7. By MVZ Dortmund Dr. Eberhard & Partner in Germany. SCN3B Specificity 100 % Genes 5 %
SCN3B. By Fulgent Genetics Fulgent Genetics in United States. SCN3B Specificity 100 % Genes 5 %
Brugada syndrome type VII. By Bioarray in Spain. SCN3B Specificity 100 % Genes 5 %
SCN3B Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. SCN3B Specificity 100 % Genes 5 %
SCN3B Gene, entire coding region or targeted variant. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. SCN3B Specificity 100 % Genes 5 %
Brugada syndrome 7 (sequence analysis of SCN3B gene). By CGC Genetics in Portugal. SCN3B Specificity 100 % Genes 5 %
Brugada Syndrome type 7. By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States. SCN3B Specificity 100 % Genes 5 %
Brugada syndrome type 7. By Centogene AG - the Rare Disease Company in Germany. SCN3B Specificity 100 % Genes 5 %
CACNB2. By Institute for Human Genetics University Clinic Freiburg in Germany. CACNB2 Specificity 100 % Genes 5 %
Brugada Syndrome via the CACNB2 Gene. By PreventionGenetics PreventionGenetics in United States. CACNB2 Specificity 100 % Genes 5 %
CentoICU platinum plus. By Centogene AG - the Rare Disease Company in Germany. OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN , (...) View the complete list with 494 more genes Panel GTR000530427 complete gene list OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN, IGF1R, MALT1, IL21R, PCK1, IGF1, HGD, UMPS, TRHR, SLC52A1, SERPINC1, PEPD, GP9, ACTN1, ASNS, FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4, PROS1, LRBA, PIK3CD, C15orf41, GSS, EPB42, ANK1, SPTA1, SPTB, PTPRC, LIG4, NHEJ1, RAC2, LAMTOR2, RBM8A, ELANE, SLC4A1, INSR, GNA11, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, CD40LG, CD40, AICDA, TNFRSF13B, MASTL, ITGA2B, ITGB3, GFI1B, STIM1, P2RY12, P2RX1, FGG, FGB, FGA, GP1BA, EIF2AK3, PTF1A, GLIS3, AKT2, APOC2, HADH, PSPH, PCBD1, DDC, MAT1A, SLC46A1, MYCN, RBBP8, IER3IP1, RAB18, EVC2, EVC, AKR1D1, BDNF, FANCD2, FANCA, ADAMTS13, F8, F9, GNAS, JAK3, TBX5, SALL4, CD320, LHX3, LHX4, TBX19, SPINK1, F11, RAB3GAP2, DNA2, PRKAG2, SFTPB, SFTPC, ABCA3, DOCK8, SFTPD, KDM6A, AKAP9, CALM1, MITF, GPSM2, CACNB2, ATR, PCNT, CDK5RAP2, CEP152, SPRED1, COMP, NAA10, RPS6KA3, FANCB, MAGT1, CDAN1, NEU1, UROS, PKLR, MVK, KLF1, GATA1, GATA3, SIX1, KCNQ1, KCNE1, PRPS1, SIX5, KCNQ4, PAX3, PNPT1, COL11A1, EDN3, CACNA1D, ATP6V1B1, SALL1, ZEB2, CASK, ATRX, TCF4, KCNJ10, SPTAN1, KMT2D, STIL, RAB3GAP1, CENPJ, BCKDK, EPM2A, PNPO, KCNQ3, KCNQ2, SCN2A, ST3GAL5, KCNH2, NHLRC1, ASPM, MCPH1, LAMA2, POMT1, POMT2, PLEC, PKD2, BSND, POU1F1, HNF4A, PDX1, INS, CASR, KCNJ11, NR0B1, GCH1, SCN1A, CSTB, WNK1, EGR2, PMP22, TGM1, PKHD1, PHGDH, LAMC2, BTK, ABCC8, WAS, SUMF1, LAMA3, UGT1A1, SLC26A2, SLC7A7, SERPINA1, DCLRE1C, PROP1, CTNS, G6PD, FKTN, LAMB3, SBDS, GPC3, PHOX2B, NSD1, NIPBL, TSC1, TSC2, MAP2K2, FGFR2, WDR62, SOS1, SLC2A1, SHOC2, RPS19, RMRP, NRAS, NPC2, NPC1, MEF2C, MAP2K1, LIPA, KRAS, HRAS, GLA, GJB2, FOXG1, DHCR7, CHD7, CDKL5, BRAF, F13A1, CD79B, IGLL1, CD79A, BLNK, LRRC8A, SLCO1B3, SLCO1B1, PSAT1, LIPN, CYP4F22, PNPLA1, ALOXE3, STS, CERS3, NIPAL4, ALOX12B, SERPING1, F10, PET100, COA5, SERAC1, TG, TPO, SLC5A5, DUOX2, DUOXA2, THRA, TSHB, PAX8, SLC25A1, CACNA1C, FUCA1, TJP2, FANCC, CFTR, ASPA, ARSA, TSHR, PNP, IL2RG, HPD, GNMT, DOLK, SUGCT, ARSB, AHCY, AGA, ADA, ABCD4, PDHX, PAX2, HESX1, ANKRD26, CYP17A1, OGDH, ALMS1, SOX2, ASL, PMM2, SLC25A20, SLC22A5, ASS1, SLC3A1, LRPPRC, GLYCTK, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, CBS, NAGS, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, MAN2B1, DBT, HIBCH, MUT, MMAA, MMAB, NDUFAF5, NDUFS2, NDUFV2, NDUFA11, SDHAF1, MOCS1, MOCS2, GALNS, GUSB, CPT1A, NDUFAF6, NDUFS7, COX15, NDUFA2, CTSA, OAT, AGXT, ACOX1, ALDH7A1, HEXB, ALDH3A2, ALDH5A1, SUOX, HEXA, TCN2, LMBRD1, MMADHC, SLC9A6, AIFM1, TAZ, GK, PDHA1, OTC, D2HGDH, ETHE1, AMT, GLDC, HMGCS2, PCCA, COQ2, UCP2, UNG, PDP1, HADHB, ACADSB, CTSD, DNAJC19, CRTAP, P3H1, ACAD8, SUCLA2, STXBP1, SPR, GATM, GAMT, ABAT, TAT, HSD3B2, HMGCL, NDUFAF1, FAH, NFU1, ALDH6A1, PDHB, ACSF3, LIAS, PDSS1, PDSS2, COQ9, FBN1, CYP11B2, MECP2, SMPD1, FH, OPA3, RAF1, HADHA, SLC25A13, ALAS2, NDUFAF2, FOXRED1, CYP11B1, GCK, SLC25A19, NDUFS4, POLG, DLD, AASS, CEP290, ADGRV1, MKKS, HPRT1, JAG1, HSD17B10, GNE, PRODH, GLB1, GNPTAB, PSAP, COMT, PTPN11, POMC, PLOD1, PAH, QDPR, PTS, WFS1, TRMU, KRT5, CPT2, CPS1, HSD17B4, MTRR, SLC16A1, ABCA12, EYA4, SLC37A4, RET, MTR, HNF1B, PSEN1, RB1, WT1, STAR, COL1A2, COL1A1, EYA1, MMACHC, HBB, HNF1A, ADSL, GAA, C12orf65, BCS1L, BCKDHB, BCKDHA, AUH, ATP8B1, ATP7B, BTD, ATP7A, HLCS, ARG1, ALPL, GYS2, PC, FBP1, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, AARS2, MCCC2, MCCC1, UBE3A, MTHFR, F5, F2, BRCA2 Specificity 1 % Genes 15 %
CentoICU platinum. By Centogene AG - the Rare Disease Company in Germany. FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4 , (...) View the complete list with 494 more genes Panel GTR000530428 complete gene list FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4, PROS1, LRBA, PIK3CD, C15orf41, GSS, EPB42, ANK1, SPTA1, SPTB, PTPRC, LIG4, NHEJ1, RAC2, LAMTOR2, RBM8A, ELANE, SLC4A1, INSR, GNA11, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, CD40LG, CD40, AICDA, TNFRSF13B, MASTL, ITGA2B, ITGB3, GFI1B, STIM1, P2RY12, P2RX1, FGG, FGB, FGA, GP1BA, EIF2AK3, PTF1A, GLIS3, AKT2, APOC2, HADH, PSPH, PCBD1, DDC, MAT1A, SLC46A1, MYCN, RBBP8, IER3IP1, RAB18, EVC2, EVC, AKR1D1, BDNF, FANCD2, FANCA, ADAMTS13, F8, F9, GNAS, JAK3, TBX5, SALL4, CD320, LHX3, LHX4, TBX19, SPINK1, F11, RAB3GAP2, DNA2, PRKAG2, SFTPB, SFTPC, ABCA3, DOCK8, SFTPD, KDM6A, AKAP9, CALM1, MITF, GPSM2, CACNB2, ATR, PCNT, CDK5RAP2, CEP152, SPRED1, COMP, NAA10, RPS6KA3, FANCB, MAGT1, CDAN1, NEU1, UROS, PKLR, MVK, KLF1, GATA1, CACNA1C, FUCA1, TJP2, GATA3, SIX1, KCNQ1, KCNE1, PRPS1, SIX5, KCNQ4, PAX3, PNPT1, COL11A1, EDN3, CACNA1D, ATP6V1B1, SALL1, ZEB2, CASK, ATRX, TCF4, KCNJ10, SPTAN1, KMT2D, STIL, RAB3GAP1, CENPJ, BCKDK, EPM2A, EGR2, PMP22, TGM1, PKHD1, PHGDH, LAMC2, BTK, ABCC8, WAS, SUMF1, LAMA3, UGT1A1, SLC26A2, SLC7A7, SERPINA1, DCLRE1C, PROP1, CTNS, G6PD, FKTN, LAMB3, SBDS, GPC3, PHOX2B, NSD1, NIPBL, TSC1, TSC2, MAP2K2, FGFR2, WDR62, SOS1, SLC2A1, SHOC2, RPS19, RMRP, PTPN11, POMC, PLOD1, NRAS, NPC2, NPC1, MEF2C, MAP2K1, LIPA, KRAS, HRAS, GLA, GJB2, FOXG1, DHCR7, CHD7, CDKL5, BRAF, FANCC, CFTR, ASPA, ARSA, TSHR, PNP, IL2RG, HPD, GNMT, DOLK, SUGCT, ARSB, AHCY, AGA, ADA, ABCD4, PDHX, PAX2, OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN, IGF1R, MALT1, IL21R, PCK1, IGF1, HGD, UMPS, TRHR, SLC52A1, SERPINC1, PEPD, F13A1, CD79B, IGLL1, CD79A, BLNK, LRRC8A, SLCO1B3, SLCO1B1, PSAT1, LIPN, CYP4F22, PNPLA1, ALOXE3, STS, CERS3, NIPAL4, ALOX12B, SERPING1, F10, PET100, COA5, SERAC1, TG, TPO, SLC5A5, DUOX2, DUOXA2, THRA, TSHB, PAX8, SLC25A1, GP9, ACTN1, ASNS, HESX1, ANKRD26, CYP17A1, OGDH, ALMS1, SOX2, ASL, PMM2, SLC25A20, SLC22A5, ASS1, SLC3A1, LRPPRC, GLYCTK, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, CBS, NAGS, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, MAN2B1, DBT, HIBCH, MUT, MMAA, MMAB, NDUFAF5, NDUFS2, NDUFV2, NDUFA11, SDHAF1, MOCS1, MOCS2, GALNS, GUSB, CPT1A, NDUFAF6, NDUFS7, COX15, NDUFA2, CTSA, OAT, AGXT, PAH, QDPR, PTS, ACOX1, ALDH7A1, HEXB, ALDH3A2, ALDH5A1, SUOX, HEXA, TCN2, LMBRD1, MMADHC, SLC9A6, AIFM1, TAZ, GK, PDHA1, OTC, D2HGDH, ETHE1, AMT, GLDC, HMGCS2, PCCA, COQ2, UCP2, UNG, PDP1, HADHB, ACADSB, CTSD, DNAJC19, CRTAP, P3H1, ACAD8, SUCLA2, STXBP1, SPR, GATM, GAMT, ABAT, TAT, HSD3B2, HMGCL, NDUFAF1, FAH, NFU1, ALDH6A1, PDHB, ACSF3, LIAS, PDSS1, PDSS2, COQ9, FBN1, CYP11B2, MECP2, SMPD1, FH, OPA3, RAF1, HADHA, SLC25A13, ALAS2, NDUFAF2, FOXRED1, CYP11B1, GCK, SLC25A19, NDUFS4, POLG, DLD, AASS, CEP290, ADGRV1, MKKS, HPRT1, JAG1, HSD17B10, GNE, PRODH, GLB1, GNPTAB, PSAP, COMT, WFS1, TRMU, KRT5, CPT2, CPS1, HSD17B4, MTRR, SLC16A1, ABCA12, EYA4, SLC37A4, RET, MTR, HNF1B, PSEN1, PNPO, KCNQ3, KCNQ2, SCN2A, ST3GAL5, KCNH2, NHLRC1, ASPM, MCPH1, LAMA2, POMT1, POMT2, PLEC, PKD2, BSND, POU1F1, HNF4A, PDX1, INS, CASR, KCNJ11, NR0B1, GCH1, SCN1A, CSTB, WNK1, RB1, WT1, STAR, COL1A2, COL1A1, EYA1, MMACHC, HBB, HNF1A, ADSL, GAA, C12orf65, BCS1L, BCKDHB, BCKDHA, AUH, ATP8B1, ATP7B, BTD, ATP7A, HLCS, ARG1, ALPL, GYS2, PC, FBP1, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, AARS2, MCCC2, MCCC1, UBE3A, MTHFR, F5, F2, BRCA2 Specificity 1 % Genes 15 %
Short QT syndrome. By Health in Code in Spain. CACNB2, CACNA1C, KCNQ1, CACNA1D, CACNA2D1, KCNH2, KCNJ2 Specificity 43 % Genes 15 %
Invitae Short QT Syndrome Panel. By Invitae in United States. CACNB2, CACNA1C, KCNQ1, KCNH2, KCNJ2 Specificity 40 % Genes 10 %
Short QT syndrome. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. CACNB2, CACNA1C, KCNQ1, KCNH2, KCNJ2 Specificity 40 % Genes 10 %
Short QT Syndrome (SQTS) Panel. By Blueprint Genetics in Finland. CACNB2, CACNA1C, KCNQ1, KCNH2, KCNJ2 Specificity 40 % Genes 10 %
Short QT Syndrome Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. CACNB2, CACNA1C, KCNQ1, KCNH2, KCNJ2 Specificity 40 % Genes 10 %
Short QT Syndrome NGS and Deletion/Duplication Panel. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. CACNB2, CACNA1C, KCNQ1, CACNA2D1, KCNH2, KCNJ2 Specificity 50 % Genes 15 %
CACNB2 Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. CACNB2 Specificity 100 % Genes 5 %
CACNB2 Gene, entire coding region or targeted variant. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. CACNB2 Specificity 100 % Genes 5 %
Short QT Syndrome Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. CACNB2, CACNA1C, KCNQ1, CACNA2D1, KCNH2, KCNJ2 Specificity 50 % Genes 15 %
Brugada syndrome 4 (sequence analysis of CACNB2 gene). By CGC Genetics in Portugal. CACNB2 Specificity 100 % Genes 5 %
Short QT syndrome (NGS panel for 5 genes). By CGC Genetics in Portugal. CACNB2, CACNA1C, KCNQ1, KCNH2, KCNJ2 Specificity 40 % Genes 10 %
Brugada Syndrome type 4. By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States. CACNB2 Specificity 100 % Genes 5 %
Short QT Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CACNB2, CACNA1C, KCNQ1, CACNA2D1, KCNH2, KCNJ2 Specificity 50 % Genes 15 %
Short QT syndrome Comprehensive panel. By Connective Tissue Gene Tests in United States. CACNB2, CACNA1C, KCNQ1, CACNA2D1, KCNH2, KCNJ2 Specificity 50 % Genes 15 %
Short QT syndrome Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. CACNB2, CACNA1C, KCNQ1, CACNA2D1, KCNH2, KCNJ2 Specificity 50 % Genes 15 %
Short QT syndrome NGS panel. By Connective Tissue Gene Tests in United States. CACNB2, CACNA1C, KCNQ1, CACNA2D1, KCNH2, KCNJ2 Specificity 50 % Genes 15 %
Brugada syndrome type 4. By Centogene AG - the Rare Disease Company in Germany. CACNB2 Specificity 100 % Genes 5 %
Brugada Syndrome 4. By MVZ Dortmund Dr. Eberhard & Partner in Germany. CACNB2 Specificity 100 % Genes 5 %
Short QT Syndrome. By Asper Biogene Asper Biogene LLC in Estonia. KCNQ1-AS1, CACNB2, CACNA1C, KCNH2, KCNJ2 Specificity 40 % Genes 10 %
Short QT Syndrome Panel. By Health in Code in Spain. CACNB2, CACNA1C, KCNQ1, CACNA1D, CACNA2D1, KCNH2, KCNJ2 Specificity 43 % Genes 15 %
CACNB2. By Fulgent Genetics Fulgent Genetics in United States. CACNB2 Specificity 100 % Genes 5 %
Brugada syndrome type IV. By Bioarray in Spain. CACNB2 Specificity 100 % Genes 5 %
Short QT Syndrome Panel by NGS. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. CACNB2, CACNA1C, KCNQ1, CACNA2D1, KCNH2, KCNJ2 Specificity 50 % Genes 15 %
Phosphorus Short QT Syndrome Panel. By Phosphorus Diagnostics LLC in United States. CACNB2, CACNA1C, KCNQ1, CACNA2D1, KCNH2, KCNJ2 Specificity 50 % Genes 15 %
KCNJ8. By Institute for Human Genetics University Clinic Freiburg in Germany. KCNJ8 Specificity 100 % Genes 5 %
KCNJ8. By Institute for Human Genetics University Clinic Freiburg in Germany. KCNJ8 Specificity 100 % Genes 5 %
Aortic Valvular Diseases Panel. By Health in Code in Spain. ADAMTSL4, PRKG1, NKX2-5, TGFB3, KCNJ8, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FLNA, SMAD4, PTPN11, PLOD1 , (...) View the complete list with 10 more genes Panel GTR000521466 complete gene list ADAMTSL4, PRKG1, NKX2-5, TGFB3, KCNJ8, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FLNA, SMAD4, PTPN11, PLOD1, HRAS, COL5A2, COL5A1, CBS, FBN1, ELN, COL3A1, COL1A2, COL1A1, GAA Specificity 4 % Genes 5 %
Hypertrophic Cardiomyopathy Extended Panel. By Health in Code in Spain. FHOD3, TRIM63, KLF10, CALR3, CAVIN4, OBSL1, AGPAT2, FHL2, CTF1, VCL, MYL3, MYL2, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, MYPN, NEXN, PLN , (...) View the complete list with 70 more genes Panel GTR000521482 complete gene list FHOD3, TRIM63, KLF10, CALR3, CAVIN4, OBSL1, AGPAT2, FHL2, CTF1, VCL, MYL3, MYL2, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, MYPN, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, MYLK2, ACTC1, PDLIM3, CASQ2, RYR2, ANK2, KCNJ8, LAMP2, TCAP, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, FLNC, MYH7, DES, TTN, CAV3, LMNA, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, BRAF, PMM2, SLC22A5, COX6B1, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, COQ2, GFM1, TSFM, MRPS22, CSRP3, FAH, TMEM70, AGK, LIAS, MRPL3, MTO1, RAF1, CRYAB, SLC25A4, DLD, GLB1, GNPTAB, GAA, ATPAF2, ACADVL, AGL, ACAD9, AARS2, TTR Specificity 2 % Genes 5 %
Congenital heart diseases Panel. By Health in Code in Spain. ISL1, HAND2, IRX4, MCTP2, NKX2-6, MED13L, TNNI3K, TAB2, SMAD6, TFAP2B, MIB1, TBX20, GATA5, ZFPM2, NOTCH2, GJA5, TDGF1, CFC1, PDGFRA, GATA6 , (...) View the complete list with 56 more genes Panel GTR000530669 complete gene list ISL1, HAND2, IRX4, MCTP2, NKX2-6, MED13L, TNNI3K, TAB2, SMAD6, TFAP2B, MIB1, TBX20, GATA5, ZFPM2, NOTCH2, GJA5, TDGF1, CFC1, PDGFRA, GATA6, ACVR2B, CRELD1, LEFTY2, CITED2, EVC, GATA4, GDF1, ZIC3, GJA1, EP300, TBX5, SALL4, DTNA, NEXN, MYH6, TNNI3, ANKRD1, NKX2-5, ACTC1, KCNJ8, ACVR1, MYH11, ACTA2, SMAD3, NOTCH1, FOXH1, NODAL, EHMT1, FOXP1, MED12, TBX1, KANSL1, KMT2D, FLNA, MYBPC3, MYH7, NF1, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, CREBBP, CHD7, BRAF, RAF1, NPHP4, JAG1, PITX2, FOXC1, EYA4, ELN Specificity 2 % Genes 5 %
Aortic diseases Panel. By Health in Code in Spain. GATA5, ADAMTSL4, B3GAT3, PRKG1, NKX2-5, TGFB3, EFEMP2, KCNJ8, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, ZDHHC9 , (...) View the complete list with 15 more genes Panel GTR000530671 complete gene list GATA5, ADAMTSL4, B3GAT3, PRKG1, NKX2-5, TGFB3, EFEMP2, KCNJ8, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, ZDHHC9, MED12, FLNA, SMAD4, PTPN11, PLOD1, HRAS, COL5A2, COL5A1, CBS, FBN1, ELN, COL3A1, COL1A2, COL1A1, GAA Specificity 3 % Genes 5 %
KCNJ8. By Fulgent Genetics Fulgent Genetics in United States. KCNJ8 Specificity 100 % Genes 5 %
KCNJ8 Gene, entire coding region or targeted variant. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. KCNJ8 Specificity 100 % Genes 5 %
Cantu syndrome (sequence analysis of KCNJ8 gene). By CGC Genetics in Portugal. KCNJ8 Specificity 100 % Genes 5 %
KCNJ8-related Brugada Syndrome. By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States. KCNJ8 Specificity 100 % Genes 5 %
Congenital Heart Diseases Panel. By Health in Code in Spain. TBX20, GJA5, GATA6, CRELD1, GATA4, GJA1, TBX5, DTNA, NEXN, MYH6, TNNI3, ANKRD1, NKX2-5, ACTC1, KCNJ8, MYH11, ACTA2, SMAD3, NOTCH1, TBX1 , (...) View the complete list with 19 more genes Panel GTR000521480 complete gene list TBX20, GJA5, GATA6, CRELD1, GATA4, GJA1, TBX5, DTNA, NEXN, MYH6, TNNI3, ANKRD1, NKX2-5, ACTC1, KCNJ8, MYH11, ACTA2, SMAD3, NOTCH1, TBX1, FLNA, MYBPC3, MYH7, TTN, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, RAF1, JAG1, PITX2, EYA4, ELN Specificity 3 % Genes 5 %
Hypertrophic cardiomyopathy extended panel. By Health in Code in Spain. MYOM1, FHOD3, MRPL44, COA6, TRIM63, KLF10, CALR3, CAVIN4, COA5, OBSL1, AGPAT2, OBSCN, FHL2, VCL, MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2 , (...) View the complete list with 84 more genes Panel GTR000530670 complete gene list MYOM1, FHOD3, MRPL44, COA6, TRIM63, KLF10, CALR3, CAVIN4, COA5, OBSL1, AGPAT2, OBSCN, FHL2, VCL, MYL3, MYL2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, MYPN, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, MYLK2, ACTC1, PDLIM3, CASQ2, RYR2, ANK2, KCNJ8, LAMP2, LZTR1, TCAP, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, FLNC, MYH7, DES, TTN, NF1, CAV3, LMNA, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, BRAF, PMM2, SLC22A5, COX6B1, FXN, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, SCO2, COQ2, GFM1, TSFM, SLC25A3, MRPS22, IDH2, FAH, TMEM70, AGK, LIAS, MRPL3, MTO1, RAF1, CRYAB, FOXRED1, SLC25A4, DLD, DSP, GLB1, GNPTAB, ELAC2, GAA, ATPAF2, ATP5F1E, ACADVL, AGL, ACAD9, AARS2, TTR Specificity 1 % Genes 5 %
SCN10A. By Institute for Human Genetics University Clinic Freiburg in Germany. SCN10A Specificity 100 % Genes 5 %
SCN10A. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SCN10A Specificity 100 % Genes 5 %
Familial episodic pain syndrome, 2 (sequencing analysis of SCN10A gene). By CGC Genetics in Portugal. SCN10A Specificity 100 % Genes 5 %
Familial Episodic Pain Type 2 Syndrome via the SCN10A Gene. By PreventionGenetics PreventionGenetics in United States. SCN10A Specificity 100 % Genes 5 %
Neuropathy. By MGZ Medical Genetics Center in Germany. KLHL13, MICAL1, SH3BP4, LARS, CLP1, DCAF8, ATL3, SCN11A, IFRD1, FAM126A, ARHGEF10, NGF, RETREG1, SCN10A, CHCHD10, SLC52A3, SLC52A2, AAAS, ABCA1, COX10 , (...) View the complete list with 102 more genes Panel GTR000521130 complete gene list KLHL13, MICAL1, SH3BP4, LARS, CLP1, DCAF8, ATL3, SCN11A, IFRD1, FAM126A, ARHGEF10, NGF, RETREG1, SCN10A, CHCHD10, SLC52A3, SLC52A2, AAAS, ABCA1, COX10, CTDP1, SLC5A7, TNNT2, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, PDK3, PLEKHG5, MARS, SMAD3, LAS1L, PEX12, MYH14, PRPS1, DNMT1, SCN9A, TDP1, IGHMBP2, VRK1, HSPB3, DYNC1H1, BICD2, UBQLN2, VAPB, ANG, TARDBP, DCTN1, SETX, FUS, ALS2, KIF1A, BSCL2, NIPA1, KIF5A, SPAST, MATR3, INF2, SPG11, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, SLC12A6, SACS, PLP1, ELP1, SOD1, SEPT9, CYP27A1, FXN, GBE1, HK1, NDUFAF5, SURF1, HEXA, AIFM1, PDHA1, SQSTM1, TYMP, HADHB, REEP1, SPTLC2, KARS, HARS, VCP, HADHA, MFN2, GARS, POLG, AMACR, OPTN, FBLN5, GAA, C12orf65, ATP7A, ABHD12, TTR Specificity 1 % Genes 5 %
Neuropathic Pain Syndromes Panel. By CeGaT GmbH in Germany. TRPA1, SCN11A, SCN10A, SCN9A, NTRK1 Specificity 20 % Genes 5 %
SCN10A. By Fulgent Genetics Fulgent Genetics in United States. SCN10A Specificity 100 % Genes 5 %
PAROXYSMAL EXTREME PAIN DISORDER. By Laboratorio de Genetica Clinica SL in Spain. SCN11A, SCN10A, SCN9A Specificity 34 % Genes 5 %
Paroxysmal Extreme Pain Disorder & Familial Episodic Pain Syndrome , Panel Massive Sequencing (NGS) TRPA1, SCN9A, SCN10A. By Reference Laboratory Genetics in Spain. TRPA1, SCN10A, SCN9A Specificity 34 % Genes 5 %
Episodic pain syndrome, familial. By Labor Dr. Wisplinghoff in Germany. SCN11A, SCN10A Specificity 50 % Genes 5 %
Familial episodic pain syndrome, 2 (sequencing analysis of SCN10A gene). By CGC Genetics in Portugal. SCN10A Specificity 100 % Genes 5 %
Episodic Pain Syndrome Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. SCN11A, SCN10A, SCN9A Specificity 34 % Genes 5 %
SCN10A. By MGZ Medical Genetics Center in Germany. SCN10A Specificity 100 % Genes 5 %
Episodic pain syndrome type 2, familial. By Centogene AG - the Rare Disease Company in Germany. SCN10A Specificity 100 % Genes 5 %
Charcot-Marie-Tooth and Sensory Neuropathies Panel. By CeGaT GmbH in Germany. DCAF8, ATL3, SCN11A, HOXD10, ARHGEF10, NGF, RETREG1, SCN10A, DST, CCT5, CTDP1, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DHTKD1, GNB4, SBF1 , (...) View the complete list with 64 more genes Panel GTR000522516 complete gene list DCAF8, ATL3, SCN11A, HOXD10, ARHGEF10, NGF, RETREG1, SCN10A, DST, CCT5, CTDP1, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, MYH14, PRPS1, SOX10, DNMT1, SCN9A, IGHMBP2, DYNC1H1, KIF1A, BSCL2, KIF5A, INF2, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, SLC12A6, ELP1, SEPT9, HK1, SURF1, AIFM1, TYMP, HADHB, REEP1, SPTLC2, KARS, HARS, HADHA, MFN2, KIF1B, GARS, POLG, OPA1, FBLN5, C12orf65, TWNK, ABHD12, TTR Specificity 2 % Genes 5 %
Ataxia, Supplemental Dominant Evaluation. By Athena Diagnostics Inc in United States. SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, SLC1A3, CACNB4, KCNA1, CACNA1A, AFG3L2, PRKCG Specificity 7 % Genes 5 %
Ataxia, Complete Dominant Evaluation. By Athena Diagnostics Inc in United States. SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, SLC1A3, CACNB4, KCNA1, ATN1, ATXN8OS, TBP, CACNA1A, ATXN7, ATXN10, ATXN3 , (...) View the complete list with 5 more genes Panel GTR000552530 complete gene list SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, SLC1A3, CACNB4, KCNA1, ATN1, ATXN8OS, TBP, CACNA1A, ATXN7, ATXN10, ATXN3, ATXN2, PPP2R2B, ATXN1, AFG3L2, PRKCG Specificity 4 % Genes 5 %
Ataxia Exome Panel. By Genetic Services Laboratory University of Chicago in United States. PIGG, CHAMP1, THG1L, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, APOPT1, CHCHD10, PRDM8, PET100, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, XPA, TRNT1 , (...) View the complete list with 460 more genes Panel GTR000553853 complete gene list PIGG, CHAMP1, THG1L, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, APOPT1, CHCHD10, PRDM8, PET100, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, XPA, TRNT1, UROC1, PMPCA, RUBCN, COQ4, SLC52A3, SLC9A1, MAPK10, YME1L1, LMNB1, ITM2B, FGF12, DGAT2, ARV1, STUB1, PUM1, OTUD4, NAT8L, ZIC4, VARS, TDP2, TRPC3, TELO2, SLC6A19, RNF168, ERCC5, SCYL1, RNF216, RNASEH1, RTN4IP1, ELOVL5, PTRH2, DMXL2, PCNA, PIK3R5, NOL3, GRID2, LAMA1, SLC52A2, EBF3, COL18A1, DOCK3, ATCAY, BEAN1, CAMTA1, CACNA1G, CTBP1, ATP2B3, ATP8A2, RARS, NAXE, AAAS, NUP62, UBA5, MECR, COX20, TBCE, SEPSECS, XRCC4, ZIC1, CA8, CCDC88C, ARL6IP1, IBA57, TUBB, LRP4, DNAJC3, HEPACAM, HERC1, CSPP1, PDE6D, TMEM107, CEP120, CEP104, KIAA0556, SAMD9L, TCTN3, PGM3, SLC25A46, ADA2, SLC39A4, GSS, GCLC, LIG4, ERCC8, APOB, SLC20A2, TPK1, SLC46A1, PRNP, COG4, MT-TP, SCO1, COX10, MARS2, VLDLR, EOMES, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, ERCC4, CP, FTL, GJA1, CTC1, RNASET2, HNRNPH2, PGK1, CTDP1, AP4M1, AP4E1, AP4B1, AP4S1, ERLIN2, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, UCHL1, C19orf12, KIF1C, NT5C2, ENTPD1, CPT1C, MAG, HACE1, CAPN1, KIDINS220, ERLIN1, ERCC6, CHMP1A, PIEZO2, GMPPB, FBXL4, NKX2-1, CAV1, IFT140, GAN, LRSAM1, MME, NALCN, TSEN2, TSEN34, EXOSC3, CLCN2, SLC16A2, DKC1, NEU1, MVK, PEX10, PEX26, PEX16, KIAA0586, AP1S2, PRPS1, SLC19A2, SOX10, DNMT1, POLR1C, ERCC3, CLPP, HTRA1, GFAP, CUL4B, CASK, OPHN1, OFD1, TCF4, KCNJ10, PNKP, SPTAN1, SCN8A, ROGDI, SLC13A5, SNAP25, KCNA2, ATP13A2, MFSD8, DNAJC5, CTSF, ADGRG1, TSEN54, RELN, DCX, BRAT1, PRRT2, TBC1D24, SCARB2, MBD5, LMNB2, EPM2A, KCNC1, KCNQ2, HCN1, FOLR1, SLC6A1, SCN2A, SLC19A3, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, ATP1A3, ATP1A2, LARGE1, POMGNT2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, ISPD, POMT1, POMT2, TRAPPC11, SYNE1, VRK1, DYNC1H1, SETX, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, RTN2, BSCL2, SLC33A1, NIPA1, L1CAM, KIF5A, SPAST, GCH1, CACNA1A, FKRP, AHI1, SCN1A, CSTB, SPG11, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, ATL1, GJB1, DNM2, EGR2, PMP22, MPZ, SH3TC2, PRX, TMEM216, PLA2G6, EIF2B5, CLN5, TTPA, SUMF1, SLC17A5, POMGNT1, PEX1, MLC1, TH, SACS, PEX7, PPT1, PEX2, FKTN, CLN8, CLN6, PRF1, SDHD, NF2, MRE11, ATM, WDR62, TINF2, SLC2A1, PLP1, PCDH19, NPC2, NPC1, GJC2, FOXG1, EIF2B1, CDKL5, ARSA, PNP, SDHA, MTFMT, FARS2, TACO1, SOD1, PNKD, WWOX, TPP1, ASL, APTX, MKS1, PMM2, CYP27A1, ASS1, COX6B1, FASTKD2, LRPPRC, FXN, GBE1, L2HGDH, GALC, DLAT, SUCLG1, DBT, HIBCH, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, CTSA, MPV17, PTS, PHYH, HEXB, ALDH5A1, SUOX, HEXA, TCN2, MMADHC, ABCD1, SLC9A6, ABCB7, PDHA1, OTC, SQSTM1, ETHE1, TYMP, ALG6, SPG7, COQ2, GRN, DPM1, FLVCR1, MPDU1, CTSD, DNAJC19, REEP1, TSFM, DARS2, RARS2, TUBA1A, RFT1, COQ8A, STXBP1, SPR, GAMT, GPI, NUBPL, NDUFA10, MTPAP, TTC19, NDUFAF1, TMEM70, PDHB, ALDH18A1, COX14, NDUFA9, NDUFB3, HARS, NDUFA12, ACO2, COQ6, PDSS1, PDSS2, COQ9, MECP2, OPA3, PANK2, KIF1B, NDUFAF2, RRM2B, FOXRED1, AFG3L2, HSPD1, NDUFS4, POLG, DLD, CEP290, NPHP1, TMEM67, ELOVL4, CC2D2A, GLB1, PSAP, WFS1, OPA1, CPS1, HSD17B4, AMACR, INPP5E, PSEN1, PAX6, PRKCG, ADSL, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATPAF2, ATP7B, BTD, HLCS, UQCRB, UQCRQ, PC, ABHD12, AARS2, UBE3A, TTR, FMR1 Specificity 1 % Genes 5 %
KCND3. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. KCND3 Specificity 100 % Genes 5 %
KCND3-related Brugada Syndrome. By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States. KCND3 Specificity 100 % Genes 5 %
Ataxia and differential diagnoses Panel. By CeGaT GmbH in Germany. RPIA, POLH, NOP56, XPC, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, CHCHD10, RNF170, POLR3B, POLR3A, WDR81, XPA, TRNT1, PMPCA, RUBCN, SLC9A1, STUB1 , (...) View the complete list with 184 more genes Panel GTR000522481 complete gene list RPIA, POLH, NOP56, XPC, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, CHCHD10, RNF170, POLR3B, POLR3A, WDR81, XPA, TRNT1, PMPCA, RUBCN, SLC9A1, STUB1, ERCC5, SCYL1, RNF216, RNASEH1, ELOVL5, PTRH2, DMXL2, PCNA, PIK3R5, GRID2, LAMA1, SLC52A2, ATCAY, BEAN1, CACNA1G, ATP2B3, ATP8A2, RARS, UBA5, COX20, CA8, CCDC88C, DNAJC3, MARS2, VLDLR, ARL13B, RPGRIP1L, ERCC4, CP, WNT1, GBA2, UCHL1, KIF1C, ERCC6, GMPPB, NKX2-1, NALCN, CLCN2, NEU1, PEX10, PRPS1, DNMT1, POLR1C, ERCC3, ERCC2, GFAP, KCNJ10, PNKP, SNAP25, KCNA2, DNAJC5, CTSF, ADGRG1, TSEN54, RELN, PRRT2, LMNB2, EPM2A, KCNC1, HCN1, FOLR1, SLC6A1, SCN2A, SLC19A3, PRICKLE1, NHLRC1, GOSR2, ATP1A3, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, TRAPPC11, SYNE1, VRK1, SETX, PNPLA6, BSCL2, ATN1, TBP, CACNA1A, ATXN7, ATXN10, ATXN3, ATXN2, PPP2R2B, AHI1, CSTB, EIF2B4, EIF2B2, EIF2B3, GJB1, TMEM216, PLA2G6, EIF2B5, CLN5, TTPA, SLC17A5, SACS, PEX7, PEX2, MTTP, CLN6, MRE11, ATM, ATXN1, NPC2, NPC1, EIF2B1, GBA, ARSA, PDHX, WWOX, TPP1, APTX, PMM2, CYP27A1, FASTKD2, FXN, GCDH, L2HGDH, GALC, DLAT, NAGLU, NDUFS7, PHYH, HEXB, ALDH5A1, HEXA, ABCB7, ALG6, SPG7, COQ2, PDP1, FLVCR1, DNAJC19, TSFM, DARS2, COQ8A, SPR, NUBPL, MTPAP, TTC19, ACO2, PDSS1, PDSS2, COQ9, OPA3, AFG3L2, POLG, CEP290, NPHP1, TMEM67, ELOVL4, CC2D2A, GLB1, WFS1, OPA1, AMACR, INPP5E, PAX6, PRKCG, TWNK, AUH, ATP7B, BTD, UQCRQ, ABHD12, AARS2, FMR1 Specificity 1 % Genes 5 %
Single gene testing KCND3. By CeGaT GmbH in Germany. KCND3 Specificity 100 % Genes 5 %
Ataxia, autosomal dominant and X-linked Panel. By CeGaT GmbH in Germany. NOP56, TMEM240, ELOVL5, BEAN1, CACNA1G, CCDC88C, VLDLR, ATP1A3, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, SLC1A3, CACNB4 , (...) View the complete list with 14 more genes Panel GTR000551347 complete gene list NOP56, TMEM240, ELOVL5, BEAN1, CACNA1G, CCDC88C, VLDLR, ATP1A3, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, SLC1A3, CACNB4, KCNA1, ATN1, TBP, CACNA1A, ATXN7, ATXN10, ATXN3, ATXN2, PPP2R2B, ATXN1, SPG7, AFG3L2, ELOVL4, PRKCG Specificity 3 % Genes 5 %
Spinocerebellar Ataxia. By Asper Biogene Asper Biogene LLC in Estonia. NOP56, CWF19L1, TMEM240, SNX14, RUBCN, SLC9A1, STUB1, RNF216, ELOVL5, LAMA1, SLC52A2, ATCAY, ATP8A2, CCDC88C, PTF1A, TUBB4A, CLCN2, DNMT1, CASK, OPHN1 , (...) View the complete list with 45 more genes Panel GTR000529356 complete gene list NOP56, CWF19L1, TMEM240, SNX14, RUBCN, SLC9A1, STUB1, RNF216, ELOVL5, LAMA1, SLC52A2, ATCAY, ATP8A2, CCDC88C, PTF1A, TUBB4A, CLCN2, DNMT1, CASK, OPHN1, KCNJ10, PNKP, GOSR2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, GRM1, SIL1, TDP1, ANO10, SYT14, SYNE1, SETX, PNPLA6, CLN5, TTPA, SACS, ATM, NPC2, NPC1, WWOX, TPP1, APTX, CYP27A1, FXN, PHYH, SLC9A6, ABCB7, FLVCR1, POLG2, DARS2, COQ8A, ACO2, AFG3L2, ELOVL4, WFS1, PRKCG, TWNK, ABHD12 Specificity 2 % Genes 5 %
Spinocerebellar Ataxia type 19/22 (SCA19/22): KCND3 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. KCND3 Specificity 100 % Genes 5 %
Ataxia Panel. By Blueprint Genetics in Finland. CWF19L1, TMEM240, SNX14, WDR81, RUBCN, LMNB1, ITM2B, STUB1, RNF216, ELOVL5, NOL3, GRID2, LAMA1, SLC52A2, EBF3, ATCAY, BEAN1, CAMTA1, ATP8A2, UBA5 , (...) View the complete list with 137 more genes Panel GTR000552801 complete gene list CWF19L1, TMEM240, SNX14, WDR81, RUBCN, LMNB1, ITM2B, STUB1, RNF216, ELOVL5, NOL3, GRID2, LAMA1, SLC52A2, EBF3, ATCAY, BEAN1, CAMTA1, ATP8A2, UBA5, SERAC1, COX20, CA8, CCDC88C, ZNF423, TCTN3, SLC25A46, GSS, SLC20A2, MARS2, VLDLR, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, COASY, CP, CYP2U1, GBA2, TUBB4A, KIF1C, CAPN1, WDPCP, FBXL4, MME, CLCN2, TMEM231, LARS2, DNMT1, CLPP, GFAP, CASK, OPHN1, OFD1, KCNJ10, PNKP, PRRT2, GOSR2, ATP1A3, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, SYNE1, SETX, FA2H, PNPLA6, CACNA1A, PPP2R2B, AHI1, CSTB, ZFYVE26, TMEM216, CLN5, TTPA, SACS, PEX7, MTTP, MRE11, ATM, SLC2A1, MTFMT, HARS2, PNKD, WWOX, TPP1, APTX, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP27A1, LRPPRC, FXN, HIBCH, NDUFS2, NDUFV1, NDUFAF6, NDUFS7, NDUFS8, PHYH, ALDH5A1, SLC9A6, ABCB7, SPG7, FLVCR1, DNAJC19, COQ8A, NUBPL, MTPAP, TTC19, ACO2, AFG3L2, NDUFS4, POLG, TRIM32, TTC8, CEP290, MKKS, NPHP1, ARL6, TMEM67, ELOVL4, CC2D2A, WFS1, OPA1, INPP5E, PAX6, PRKCG, TWNK, ABHD12, FDXR, FMR1 Specificity 1 % Genes 5 %
KCND3 Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. KCND3 Specificity 100 % Genes 5 %
KCND3 Gene, entire coding region or targeted variant. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. KCND3 Specificity 100 % Genes 5 %
Spinocerebellar ataxia panel. By LifeLabs Genetics in Canada. NOP56, IFRD1, BEAN1, DNMT1, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, VAMP1, ATN1, ATXN8OS, TBP, CACNA1A, ATXN7, ATXN10, ATXN3 , (...) View the complete list with 5 more genes Panel GTR000553058 complete gene list NOP56, IFRD1, BEAN1, DNMT1, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, VAMP1, ATN1, ATXN8OS, TBP, CACNA1A, ATXN7, ATXN10, ATXN3, ATXN2, PPP2R2B, ATXN1, AFG3L2, PRKCG Specificity 4 % Genes 5 %
Ataxia, Comprehensive Evaluation. By Athena Diagnostics Inc in United States. SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, SYNE1, SETX , (...) View the complete list with 22 more genes Panel GTR000552523 complete gene list SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, SYNE1, SETX, ATN1, ATXN8OS, TBP, CACNA1A, ATXN7, ATXN10, ATXN3, ATXN2, PPP2R2B, TTPA, SACS, MRE11, ATM, ATXN1, APTX, FXN, FLVCR1, COQ8A, MTPAP, AFG3L2, POLG, PRKCG Specificity 3 % Genes 5 %
KCND3. By Institute for Human Genetics University Clinic Freiburg in Germany. KCND3 Specificity 100 % Genes 5 %
KCND3. By Institute for Human Genetics University Clinic Freiburg in Germany. KCND3 Specificity 100 % Genes 5 %
Spinocerebellar ataxia 19 (SCA19, sequence analysis of KCND3 gene). By CGC Genetics in Portugal. KCND3 Specificity 100 % Genes 5 %
Hereditary ataxias (NGS panel for 44 genes). By CGC Genetics in Portugal. PLEKHG4, TMEM240, ZNF592, ELOVL5, PIK3R5, CCDC88C, VLDLR, DNMT1, PNKP, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, SIL1 , (...) View the complete list with 24 more genes Panel GTR000523795 complete gene list PLEKHG4, TMEM240, ZNF592, ELOVL5, PIK3R5, CCDC88C, VLDLR, DNMT1, PNKP, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, SYNE1, SETX, CACNA1A, TTPA, SACS, MTTP, MRE11, ATM, APTX, FXN, ABCB7, COQ8A, MTPAP, AFG3L2, POLG, ELOVL4, PRKCG, ABHD12 Specificity 3 % Genes 5 %
Brugada Syndrome via the KCND3 Gene. By PreventionGenetics PreventionGenetics in United States. KCND3 Specificity 100 % Genes 5 %
Spinocerebellar ataxia type 22. By Centogene AG - the Rare Disease Company in Germany. KCND3 Specificity 100 % Genes 5 %
KCND3. By MVZ Dortmund Dr. Eberhard & Partner in Germany. KCND3 Specificity 100 % Genes 5 %
Spinocerebellar Ataxia 19 &22. By Praxis fuer Humangenetik Wien in Austria. KCND3 Specificity 100 % Genes 5 %
Spinocerebellar Ataxia 19 &22. By MedGene in Slovakia. KCND3 Specificity 100 % Genes 5 %
Spinocerebellar ataxia. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. ATXN8, NOP56, IFRD1, VLDLR, DNMT1, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, SLC1A3, SYNE1, SETX, ATN1, TBP, CACNA1A, ATXN7 , (...) View the complete list with 17 more genes Panel GTR000531487 complete gene list ATXN8, NOP56, IFRD1, VLDLR, DNMT1, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, SLC1A3, SYNE1, SETX, ATN1, TBP, CACNA1A, ATXN7, ATXN10, ATXN3, ATXN2, PPP2R2B, TTPA, SACS, ATXN1, APTX, FXN, COQ2, COQ8A, PDSS1, PDSS2, COQ9, AFG3L2, POLG, PRKCG Specificity 3 % Genes 5 %
KCND3. By Fulgent Genetics Fulgent Genetics in United States. KCND3 Specificity 100 % Genes 5 %
Spinocerebellar ataxia type 19. By Bioarray in Spain. KCND3 Specificity 100 % Genes 5 %
Exome. By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. in Brazil. IPW, SMNDC1, GEMIN2, HERC2, ATXN8, CYP2C9, IL1RN, CCDC88C, VKORC1, CYP2D6, CYP2C19, F8, F9, MAGEL2, SOX9, RPL10, PTCHD1, SEMA3E, SHANK2, KCND3 , (...) View the complete list with 46 more genes Panel GTR000530118 complete gene list IPW, SMNDC1, GEMIN2, HERC2, ATXN8, CYP2C9, IL1RN, CCDC88C, VKORC1, CYP2D6, CYP2C19, F8, F9, MAGEL2, SOX9, RPL10, PTCHD1, SEMA3E, SHANK2, KCND3, ATXN8OS, TBP, ATXN2, SERPINA1, CDH1, TSC1, ATXN1, PTPN11, NRAS, DMPK, MAP2K1, KRAS, IDS, DMD, CHD7, CDKL5, BRAF, CFTR, FGFR3, COL5A2, COL5A1, MEN1, FXN, ABCD1, FBN1, MECP2, AFG3L2, RET, TGFB1, PRKCG, COL3A1, COL1A2, COL1A1, COL2A1, ALPL, TP53, PTEN, MUTYH, APC, UBE3A, TTR, HFE, HTT, FMR1, BRCA2, BRCA1 Specificity 2 % Genes 5 %
SPINOCEREBELLAR ATAXIA (AUTOSOMAL DOMINANT) (SCAs). By Laboratorio de Genetica Clinica SL in Spain. NOP56, SPTBN2, TTBK2, TGM6, FGF14, ITPR1, KCNC3, KCND3, ATXN8OS, TBP, CACNA1A, ATXN7, ATXN10, ATXN3, ATXN2, PPP2R2B, ATXN1, AFG3L2, PRKCG Specificity 6 % Genes 5 %
Spinocerebellar Ataxia Type 19 , Sequencing KCND3 Gene. By Reference Laboratory Genetics in Spain. KCND3 Specificity 100 % Genes 5 %
HCN4. By Institute for Human Genetics University Clinic Freiburg in Germany. HCN4 Specificity 100 % Genes 5 %
Brugada syndrome 8 (sequence analysis of HCN4 gene). By CGC Genetics in Portugal. HCN4 Specificity 100 % Genes 5 %
Brugada syndrome type 8. By Centogene AG - the Rare Disease Company in Germany. HCN4 Specificity 100 % Genes 5 %
Single gene testing HCN4. By CeGaT GmbH in Germany. HCN4 Specificity 100 % Genes 5 %
Sick-Sinus-Syndrome 2. By MVZ Dortmund Dr. Eberhard & Partner in Germany. HCN4 Specificity 100 % Genes 5 %
Hyperpolarization activated cyclic nucleotide-gated potassium channel -4. By DNA Diagnostic Laboratory - Service de Génétique Médicale University Hospital Lausanne (CHUV) in Switzerland. HCN4 Specificity 100 % Genes 5 %
Left Ventricular Non-Compactation Panel. By Health in Code in Spain. MIB1, DTNA, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, ACTC1, CASQ2, RYR2, NOTCH1, KCNQ1 , (...) View the complete list with 16 more genes Panel GTR000521460 complete gene list MIB1, DTNA, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, ACTC1, CASQ2, RYR2, NOTCH1, KCNQ1, HCN4, KCNH2, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, TTN, LMNA, PTPN11, DMD, MLYCD, TAZ, DNAJC19, DSP Specificity 3 % Genes 5 %
Non-compaction cardiomyopathy. By Health in Code in Spain. NNT, MIB1, DTNA, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, ACTC1, CASQ2, RYR2, NOTCH1 , (...) View the complete list with 17 more genes Panel GTR000530653 complete gene list NNT, MIB1, DTNA, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, ACTC1, CASQ2, RYR2, NOTCH1, KCNQ1, HCN4, KCNH2, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, TTN, LMNA, PTPN11, DMD, MLYCD, TAZ, DNAJC19, DSP Specificity 3 % Genes 5 %
HCN4. By Fulgent Genetics Fulgent Genetics in United States. HCN4 Specificity 100 % Genes 5 %
Brugada syndrome type VIII. By Bioarray in Spain. HCN4 Specificity 100 % Genes 5 %
Catecholaminergic Polymorphic Ventricular Tachycardia , Panel Massive Sequencing (NGS) 14 Genes. By Reference Laboratory Genetics in Spain. VCL, DTNA, TNNT2, TPM1, ACTC1, CASQ2, RYR2, HCN4, MYBPC3, LDB3, MYH7, LMNA, TAZ, DNAJC19 Specificity 8 % Genes 5 %
HCN4 mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. HCN4 Specificity 100 % Genes 5 %
Brugada Syndrome type 8. By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States. HCN4 Specificity 100 % Genes 5 %
Sick Sinus Syndrome and Brugada Syndrome via the HCN4 Gene. By PreventionGenetics PreventionGenetics in United States. HCN4 Specificity 100 % Genes 5 %
Brugada Syndrome 8. By MVZ Dortmund Dr. Eberhard & Partner in Germany. HCN4 Specificity 100 % Genes 5 %
HCN4 Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. HCN4 Specificity 100 % Genes 5 %
HCN4 Gene, entire coding region or targeted variant. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. HCN4 Specificity 100 % Genes 5 %
Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability. By Athena Diagnostics Inc in United States. GFAP, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, DYRK1A, WDR45 , (...) View the complete list with 36 more genes Panel GTR000559478 complete gene list GFAP, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, DYRK1A, WDR45, NEXMIF, PURA, SNAP25, EEF1A2, SPATA5, SETD2, HNRNPU, RBFOX1, CACNA2D1, SRPX2, PQBP1, DCX, DEAF1, BCKDK, ALG13, GRIN2B, GABRB2, FOLR1, SLC35A2, DPYD, GPC3, SMC1A, PLP1, PCDH19, CHRNA7, CDKL5, ARX, SLC6A8, SLC9A6, ALG9, GATM, GAMT, ABAT, MECP2, HSD17B10, ADSL Specificity 2 % Genes 5 %
CACNA2D1. By Institute for Human Genetics University Clinic Freiburg in Germany. CACNA2D1 Specificity 100 % Genes 5 %
CACNA2D1. By Fulgent Genetics Fulgent Genetics in United States. CACNA2D1 Specificity 100 % Genes 5 %
CACNA2D1 Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. CACNA2D1 Specificity 100 % Genes 5 %
CACNA2D1 Gene, entire coding region or targeted variant. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. CACNA2D1 Specificity 100 % Genes 5 %
Epilepsy Advanced Sequencing and CNV Evaluation - Infantile Spasms. By Athena Diagnostics Inc in United States. SPTAN1, ST3GAL3, NR2F1, TBL1XR1, CACNA2D1, GRIN2A, SLC35A2, SCN2A, GABRB3, MEF2C, FOXG1, CDKL5, ARX, SLC25A22, STXBP1, ADSL Specificity 7 % Genes 5 %
Syndromic Autism Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. NLGN3, NLGN4X, CTNNB1, UBE3C, ARID1B, TMEM231, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, NTNG1, ADNP , (...) View the complete list with 63 more genes Panel GTR000522577 complete gene list NLGN3, NLGN4X, CTNNB1, UBE3C, ARID1B, TMEM231, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, NTNG1, ADNP, PTCHD1, SHANK3, VPS13B, ZEB2, SETBP1, RAB39B, CASK, OPHN1, KDM5C, PHF6, FGD1, ATRX, CNTNAP2, TCF4, PNKP, DYRK1A, NRXN1, TBL1XR1, SETD2, PAFAH1B1, RELN, PQBP1, BCKDK, MBD5, GRIN2B, FOLR1, SCN2A, GABRB3, SYNE1, L1CAM, SCN1A, NSD1, NIPBL, TSC1, SMC1A, SMC3, RAD21, TSC2, HDAC8, SLC2A1, RAI1, PTPN11, PCDH19, MEF2C, FOXG1, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, TMLHE, ALDH5A1, SLC9A6, AMT, TUBA1A, STXBP1, MECP2, NHS, HPRT1, PTEN, UBE3A, FMR1 Specificity 2 % Genes 5 %
Autsim Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. NR1I3, AVPR1A, BDNF, SLC6A4, AUTS2, DOCK4, GABRG1, GNA14, IMMP2L, KATNAL2, KCTD13, KLHL3, NEGR1, PDE10A, PIP5K1B, PON3, SATB2, SMG6, SOX5, ST7 , (...) View the complete list with 87 more genes Panel GTR000528547 complete gene list NR1I3, AVPR1A, BDNF, SLC6A4, AUTS2, DOCK4, GABRG1, GNA14, IMMP2L, KATNAL2, KCTD13, KLHL3, NEGR1, PDE10A, PIP5K1B, PON3, SATB2, SMG6, SOX5, ST7, STK3, ZNF507, ZNF804A, ZNHIT6, CNTNAP5, DLGAP2, DPP10, DPP6, GRPR, PCDH9, SLC9A9, SMARCB1, MAGEL2, SNRPN, RPL10, UBE2A, AFF2, NLGN3, NLGN4X, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, NTNG1, PTCHD1, SHANK2, SHANK3, VPS13B, ZEB2, RAB39B, CASK, OPHN1, KDM5C, PHF6, FGD1, ATRX, CNTNAP2, TCF4, PNKP, ANKRD11, NRXN1, RBFOX1, PAFAH1B1, RELN, PQBP1, MBD5, GRIN2B, FOLR1, SCN2A, GABRB3, L1CAM, SPAST, SCN1A, MET, NSD1, NIPBL, TSC1, SMC1A, TSC2, SLC2A1, RAI1, PTPN11, PCDH19, MEF2C, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, SLC9A6, MECP2, NHS, HPRT1, ADSL, PTEN, UBE3A, FMR1 Specificity 1 % Genes 5 %
CACNA1C. By Institute for Human Genetics University Clinic Freiburg in Germany. CACNA1C Specificity 100 % Genes 5 %
Timothy Syndrome. By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States. CACNA1C Specificity 100 % Genes 5 %
Autism/Intellectual Disability/Multiple Anomalies. By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States. ERCC8, RPGRIP1L, AVPR1A, BDNF, SLC6A4, ERCC6, SPRED1, RPS6KA3, NLGN3, NLGN4X, HOXA1, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, SHANK2, SHANK3 , (...) View the complete list with 69 more genes Panel GTR000327662 complete gene list ERCC8, RPGRIP1L, AVPR1A, BDNF, SLC6A4, ERCC6, SPRED1, RPS6KA3, NLGN3, NLGN4X, HOXA1, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, SHANK2, SHANK3, VPS13B, ZEB2, RAB39B, CASK, OPHN1, KDM5C, PHF6, FGD1, ATRX, CNTNAP2, TCF4, PNKP, NRXN1, KMT2D, PAFAH1B1, RELN, PQBP1, DCX, MBD5, FOLR1, GABRB3, ASPM, L1CAM, FGFR1, NF1, SCN1A, MET, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, CBL, RAD21, TSC2, MAP2K2, HDAC8, FGFR2, SOS1, SLC2A1, SHOC2, RAI1, PTPN11, PCDH19, NRAS, MEF2C, MAP2K1, KRAS, HRAS, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, FGFR3, SLC9A6, TUBA1A, MECP2, RAF1, MKKS, NHS, HPRT1, PTEN, UBE3A, FMR1 Specificity 2 % Genes 5 %
AutismNext. By Ambry Genetics in United States. POGZ, KATNAL2, UPF3B, NLGN3, NLGN4X, ARID1B, TBR1, CHD8, CACNA1C, FOXP1, MED12, ADNP, PTCHD1, SHANK3, ZEB2, RAB39B, GRIA3, CNTNAP2, TCF4, ANKRD11 , (...) View the complete list with 28 more genes Panel GTR000560496 complete gene list POGZ, KATNAL2, UPF3B, NLGN3, NLGN4X, ARID1B, TBR1, CHD8, CACNA1C, FOXP1, MED12, ADNP, PTCHD1, SHANK3, ZEB2, RAB39B, GRIA3, CNTNAP2, TCF4, ANKRD11, DYRK1A, NRXN1, CHD2, GRIN2B, SCN2A, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, RAD21, TSC2, HDAC8, RAI1, PCDH19, MEF2C, FOXG1, DHCR7, CREBBP, CHD7, CDKL5, SLC6A8, SLC9A6, MECP2, PTEN, UBE3A, FMR1 Specificity 3 % Genes 5 %
CACNA1C mutation analysis (Timothy Syndrome). By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. CACNA1C Specificity 100 % Genes 5 %
CACNA1C. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. CACNA1C Specificity 100 % Genes 5 %
Brugada Syndrome type 3. By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States. CACNA1C Specificity 100 % Genes 5 %
Timothy Syndrome and Brugada Syndrome via the CACNA1C Gene. By PreventionGenetics PreventionGenetics in United States. CACNA1C Specificity 100 % Genes 5 %
Autism Spectrum Disorders Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. MBD6, WDFY3, DGAT2L6, CDC42BPB, SYN2, STXBP5, KAT2B, TNRC6B, TCF20, KMT5B, MYO9B, CSMD1, NAA15, DSCAM, DISC1, EFR3A, CTTNBP2, CNTN6, CTNND2, ASH1L , (...) View the complete list with 87 more genes Panel GTR000558794 complete gene list MBD6, WDFY3, DGAT2L6, CDC42BPB, SYN2, STXBP5, KAT2B, TNRC6B, TCF20, KMT5B, MYO9B, CSMD1, NAA15, DSCAM, DISC1, EFR3A, CTTNBP2, CNTN6, CTNND2, ASH1L, ABCA7, MYT1L, MED13L, BCL11A, CACNA2D3, POGZ, CUL3, ASXL3, CC2D1A, C12orf57, ZNF407, SETD5, ZMYND11, GRIP1, TBC1D20, PACS1, AUTS2, KATNAL2, KMT2A, MAGEL2, ANK2, NFIX, UPF3B, NLGN3, NLGN4X, ARID1B, TBR1, HOXA1, CHD8, CACNA1C, EHMT1, FOXP1, ADNP, PTCHD1, SHANK2, SHANK3, VPS13B, RAB39B, CNTNAP2, TCF4, ANKRD11, DYRK1A, NRXN1, NEXMIF, RELN, PQBP1, DEAF1, BCKDK, MBD5, CHD2, KCNQ3, HCN1, GRIN2B, FOLR1, SLC6A1, SCN2A, GABRB3, SPAST, SCN1A, POMGNT1, SMAD4, NSD1, TSC1, RAD21, TSC2, RAI1, PCDH19, KRAS, FOXG1, DHCR7, CHD7, CDKL5, BRAF, ARX, SGSH, SLC9A6, MAOA, STXBP1, GATM, GAMT, MECP2, NDP, MFRP, ADSL, PTEN, UBE3A, FMR1 Specificity 1 % Genes 5 %
Episodic Ataxia and Phenocopies. By MGZ Medical Genetics Center in Germany. KCNA4, SLC6A19, CACNA1C, PRRT2, SLC1A3, CACNB4, KCNA1, CACNA1A, SLC2A1, ASL, SLC22A5, ASS1, ETFDH, ETFA, ETFB, SLC25A15, IVD, DBT, ABHD5, PDHA1 , (...) View the complete list with 9 more genes Panel GTR000521096 complete gene list KCNA4, SLC6A19, CACNA1C, PRRT2, SLC1A3, CACNB4, KCNA1, CACNA1A, SLC2A1, ASL, SLC22A5, ASS1, ETFDH, ETFA, ETFB, SLC25A15, IVD, DBT, ABHD5, PDHA1, OTC, PNPLA2, DARS2, CPT2, CPS1, BCKDHB, BCKDHA, ARG1, ACADVL Specificity 4 % Genes 5 %
Brugada Syndrome 3. By MVZ Dortmund Dr. Eberhard & Partner in Germany. CACNA1C Specificity 100 % Genes 5 %
Skeletal Myopathy Panel. By Health in Code in Spain. CAVIN4, MYL3, MYL2, PRKAG2, TNNI3, KCNE3, LAMP2, CACNA1C, LAMA2, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, FHL1, BAG3, BSCL2, LDB3, MYOT , (...) View the complete list with 26 more genes Panel GTR000521472 complete gene list CAVIN4, MYL3, MYL2, PRKAG2, TNNI3, KCNE3, LAMP2, CACNA1C, LAMA2, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, FHL1, BAG3, BSCL2, LDB3, MYOT, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, CAPN3, SGCB, SGCA, FKTN, HRAS, DMD, DOLK, PMM2, SLC22A5, SURF1, PHKA1, TAZ, COQ2, AGK, CRYAB, SLC25A4, DLD, GAA, AGL Specificity 5 % Genes 10 %
Timothy Syndrome. By Clinical Genomics Maastricht University Medical Centre in Netherlands. CACNA1C Specificity 100 % Genes 5 %
Autism. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. OXTR, GABRG3, GABRA5, EN2, PDE8B, LAMB1, SLC6A4, SLC9A9, CNTN4, RPL10, NLGN3, NLGN4X, HOXA1, CACNA1C, FOXP2, PTCHD1, SHANK3, CNTNAP2, NRXN1, RELN , (...) View the complete list with 8 more genes Panel GTR000531635 complete gene list OXTR, GABRG3, GABRA5, EN2, PDE8B, LAMB1, SLC6A4, SLC9A9, CNTN4, RPL10, NLGN3, NLGN4X, HOXA1, CACNA1C, FOXP2, PTCHD1, SHANK3, CNTNAP2, NRXN1, RELN, GABRB3, CACNA1H, PCDH19, ARX, SLC25A12, MECP2, CACNA1F, UBE3A Specificity 4 % Genes 5 %
CACNA1C-Related Disorders: CACNA1C Gene Deletion/Duplication. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. CACNA1C Specificity 100 % Genes 5 %
Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. NR1I3, SMARCB1, MAGEL2, UBE2A, AFF2, NLGN3, NLGN4X, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, VPS13B, ZEB2, RAB39B, CASK, OPHN1 , (...) View the complete list with 39 more genes Panel GTR000558536 complete gene list NR1I3, SMARCB1, MAGEL2, UBE2A, AFF2, NLGN3, NLGN4X, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, VPS13B, ZEB2, RAB39B, CASK, OPHN1, KDM5C, PHF6, FGD1, ATRX, CNTNAP2, TCF4, PNKP, NRXN1, PAFAH1B1, RELN, PQBP1, BCKDK, MBD5, FOLR1, L1CAM, SCN1A, NSD1, NIPBL, SMC1A, SLC2A1, RAI1, PTPN11, PCDH19, MEF2C, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, SLC9A6, MECP2, NHS, HPRT1, PTEN, UBE3A, FMR1 Specificity 2 % Genes 5 %
Short QT NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. CACNA1C, KCNQ1, KCNH2, KCNJ2 Specificity 25 % Genes 5 %
CACNA1C. By Fulgent Genetics Fulgent Genetics in United States. CACNA1C Specificity 100 % Genes 5 %
Autism Spectrum Disorders Panel. By Blueprint Genetics in Finland. CNOT3, EN2, COL4A3BP, TCF20, KMT5B, CNTN6, CTNND2, TRIP12, BCL11A, POGZ, CC2D1A, RPL10, NLGN3, NLGN4X, CACNA1C, FOXP1, ADNP, PTCHD1, SHANK3, NSD1 , (...) View the complete list with 6 more genes Panel GTR000552821 complete gene list CNOT3, EN2, COL4A3BP, TCF20, KMT5B, CNTN6, CTNND2, TRIP12, BCL11A, POGZ, CC2D1A, RPL10, NLGN3, NLGN4X, CACNA1C, FOXP1, ADNP, PTCHD1, SHANK3, NSD1, TSC1, TSC2, DHCR7, GAMT, MECP2, PTEN Specificity 4 % Genes 5 %
Brugada syndrome type III. By Bioarray in Spain. CACNA1C Specificity 100 % Genes 5 %
Long QT syndrome type VIII. By Bioarray in Spain. CACNA1C Specificity 100 % Genes 5 %
CACNA1C Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. CACNA1C Specificity 100 % Genes 5 %
Genecept Assay™. By Genomind Genomind, Inc in United States. GRIK1, HTR2C, OPRM1, CYP2B6, CYP3A5, CYP1A2, CYP2C9, ANK3, ADRA2A, DRD2, BDNF, SLC6A4, CYP2D6, CYP2C19, CACNA1C, MC4R, COMT, MTHFR Specificity 6 % Genes 5 %
CACNA1C Gene, entire coding region or targeted variant. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. CACNA1C Specificity 100 % Genes 5 %
Brugada Syndrome Type 3 , Sequencing CACNA1C Gene. By Reference Laboratory Genetics in Spain. CACNA1C Specificity 100 % Genes 5 %
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes. By Reference Laboratory Genetics in Spain. AMPD3, PEX11B, TNNT3, MTMR14, TNNI2, GLE1, AMPD1, PLEKHG5, RYR2, LAMP2, CHRNG, PEX5, PEX12, PEX10, PEX26, PEX3, PEX14, CACNA1C, PEX6, ITGA7 , (...) View the complete list with 91 more genes Panel GTR000559873 complete gene list AMPD3, PEX11B, TNNT3, MTMR14, TNNI2, GLE1, AMPD1, PLEKHG5, RYR2, LAMP2, CHRNG, PEX5, PEX12, PEX10, PEX26, PEX3, PEX14, CACNA1C, PEX6, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, CHKB, LAMA2, SIL1, CHRNB1, CHRND, CHRNA1, MUSK, COLQ, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, EMD, SYNE2, TMEM43, SYNE1, IGHMBP2, VRK1, DYNC1H1, BIN1, MTM1, TNNT1, MYH2, TPM2, CFL2, CNTN1, KBTBD13, MEGF10, ACTA1, TPM3, RYR1, CACNA1S, SELENON, FHL1, BAG3, BSCL2, ATP2A1, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, SGCE, TOR1A, SCN4A, DYSF, UBA1, CAV3, FKRP, PABPN1, CLCN1, LMNA, DNM2, TRPV4, RAPSN, CAPN3, SGCG, POMGNT1, PEX1, SGCB, SGCA, PEX7, PEX2, NEB, FKTN, DOK7, CHRNE, DMD, PMM2, PYGM, CHAT, PHKA1, DPM1, PNPLA2, DPM3, CAVIN1, VCP, CRYAB, TRIM32, GNE, GAA Specificity 1 % Genes 5 %
Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes. By Reference Laboratory Genetics in Spain. BDNF, SLC6A4, AUTS2, KLHL3, PDE10A, SATB2, SOX5, DPP6, SLC9A9, SNRPN, RPL10, NLGN3, NLGN4X, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2 , (...) View the complete list with 57 more genes Panel GTR000559901 complete gene list BDNF, SLC6A4, AUTS2, KLHL3, PDE10A, SATB2, SOX5, DPP6, SLC9A9, SNRPN, RPL10, NLGN3, NLGN4X, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, PTCHD1, SHANK2, SHANK3, VPS13B, ZEB2, RAB39B, CASK, OPHN1, KDM5C, PHF6, FGD1, ATRX, CNTNAP2, TCF4, PNKP, ANKRD11, NRXN1, PAFAH1B1, RELN, PQBP1, MBD5, GRIN2B, FOLR1, SCN2A, GABRB3, L1CAM, SPAST, SCN1A, MET, NSD1, NIPBL, TSC1, SMC1A, TSC2, RAI1, PTPN11, PCDH19, MEF2C, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, SLC9A6, MECP2, NHS, HPRT1, PTEN, UBE3A, FMR1 Specificity 2 % Genes 5 %
Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies Panel. By Phosphorus Diagnostics LLC in United States. VCL, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, A2ML1, RRAS, SPRED1, LAMP2, RASA1, CACNA1C, TCAP, MYBPC3 , (...) View the complete list with 25 more genes Panel GTR000558275 complete gene list VCL, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, A2ML1, RRAS, SPRED1, LAMP2, RASA1, CACNA1C, TCAP, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, NF1, CAV3, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, BRAF, RAF1, GAA, AGL, TTR Specificity 3 % Genes 5 %
Phosphorus Hypertrophic Cardiomyopathy Including Recessive Pediatric Syndromes Panel. By Phosphorus Diagnostics LLC in United States. VCL, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, LAMP2, CACNA1C, TCAP, MYBPC3, FHL1, BAG3, LDB3, FLNC , (...) View the complete list with 11 more genes Panel GTR000558276 complete gene list VCL, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, LAMP2, CACNA1C, TCAP, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, CAV3, GLA, MTO1, CPT2, ELAC2, GAA, ACADVL, AGL, TTR Specificity 4 % Genes 5 %
Timothy Syndrome: gene sequencing. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. CACNA1C Specificity 100 % Genes 5 %
Long QT Syndrome: gene sequencing panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, CALM2, CALM1, ANK2, CACNA1C, KCNE1, KCNJ2, CAV3 Specificity 25 % Genes 15 %
CACNA1C. Detection of the mutations p.Gly406Arg and p.Gly402Ser by sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. CACNA1C Specificity 100 % Genes 5 %
Brugada syndrome 3 (sequence analysis of CACNA1C gene). By CGC Genetics in Portugal. CACNA1C Specificity 100 % Genes 5 %
Long QT syndrome type 8 (LQT8, sequence analysis of CACNA1C gene). By CGC Genetics in Portugal. CACNA1C Specificity 100 % Genes 5 %
Vascular and connective tissue diseases - panels. By MGZ Medical Genetics Center in Germany. JAM3, AIMP1, CST3, COL4A2, ADAMTSL4, ADA2, MAT2A, MFAP5, PRKG1, ADAR, ADCY6, TGFB3, BMPR2, EFEMP2, SMAD9, CAV1, KCNK3, BMPR1B, ACVRL1, ZNF469 , (...) View the complete list with 47 more genes Panel GTR000552434 complete gene list JAM3, AIMP1, CST3, COL4A2, ADAMTSL4, ADA2, MAT2A, MFAP5, PRKG1, ADAR, ADCY6, TGFB3, BMPR2, EFEMP2, SMAD9, CAV1, KCNK3, BMPR1B, ACVRL1, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, AFF2, AGTR2, CACNA1C, HTRA1, TREX1, FLNA, COL4A1, AGRN, NOTCH3, ADAMTS2, ENG, PLOD1, GLA, COL5A2, COL5A1, CBS, AIFM1, OTC, COQ8A, SLC39A13, AGK, FBN1, AFG3L2, POLG, AMACR, COL3A1, COL1A2, COL1A1, ADSL, B4GALT7, AGL, TTR Specificity 2 % Genes 5 %
Ataxia. By MGZ Medical Genetics Center in Germany. KCNA4, SLC52A3, SLC6A19, SLC52A2, SLC2A10, CACNA1C, PRRT2, SLC1A3, CACNB4, KCNA1, SETX, CACNA1A, SACS, ATM, SLC2A1, TACO1, ASL, APTX, ASS1, SLC25A15 , (...) View the complete list with 14 more genes Panel GTR000521053 complete gene list KCNA4, SLC52A3, SLC6A19, SLC52A2, SLC2A10, CACNA1C, PRRT2, SLC1A3, CACNB4, KCNA1, SETX, CACNA1A, SACS, ATM, SLC2A1, TACO1, ASL, APTX, ASS1, SLC25A15, IVD, DBT, ABCB7, PDHA1, OTC, DARS2, COQ8A, TTC19, POLG, CPS1, C12orf65, BCKDHB, BCKDHA, ARG1 Specificity 3 % Genes 5 %
Teenager Stroke / Stroke-Like Episodes. By MGZ Medical Genetics Center in Germany. COL4A2, ADA2, ABCC6, SLC2A10, TGFBR2, TGFBR1, TGFB2, CACNA1C, HTRA1, TREX1, FLNA, COL4A1, NOTCH3, GLA, CBS, OTC, FBN1, POLG, AMACR, COL3A1 , (...) View the complete list with 1 more genes Panel GTR000521118 complete gene list COL4A2, ADA2, ABCC6, SLC2A10, TGFBR2, TGFBR1, TGFB2, CACNA1C, HTRA1, TREX1, FLNA, COL4A1, NOTCH3, GLA, CBS, OTC, FBN1, POLG, AMACR, COL3A1, TTR Specificity 5 % Genes 5 %
Long QT syndrome type 8. By Centogene AG - the Rare Disease Company in Germany. CACNA1C Specificity 100 % Genes 5 %
Brugada syndrome type 3. By Centogene AG - the Rare Disease Company in Germany. CACNA1C Specificity 100 % Genes 5 %
Long QT Syndrome 8. By MVZ Dortmund Dr. Eberhard & Partner in Germany. CACNA1C Specificity 100 % Genes 5 %
Autism Spectrum Disorders. By Asper Biogene Asper Biogene LLC in Estonia. EN2, PDE8B, AVPR1A, SLC6A4, SLC9A9, MAGEL2, RPL10, NLGN4X, HOXA1, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, NTNG1, ADNP, PTCHD1, SHANK3, VPS13B , (...) View the complete list with 32 more genes Panel GTR000560258 complete gene list EN2, PDE8B, AVPR1A, SLC6A4, SLC9A9, MAGEL2, RPL10, NLGN4X, HOXA1, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, NTNG1, ADNP, PTCHD1, SHANK3, VPS13B, ZEB2, CNTNAP2, ANKRD11, NRXN1, SETD2, RELN, PQBP1, SCN2A, SCN1A, NSD1, NIPBL, TSC1, SMC3, RAD21, TSC2, HDAC8, RAI1, PTPN11, PCDH19, FOXG1, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, SLC6A8, MECP2, NHS, HPRT1, ADSL, UBE3A Specificity 2 % Genes 5 %
CACNA1C gene sequencing. By Health in Code in Spain. CACNA1C Specificity 100 % Genes 5 %
Timothy syndrome. By Health in Code in Spain. CACNA1C Specificity 100 % Genes 5 %
Skeletal myopathy Panel. By Health in Code in Spain. CAVIN4, XK, SPEG, TOR1AIP1, MYL3, MYL2, PRKAG2, TNNI3, KCNE3, LAMP2, CACNA1C, LAMA2, KCNJ2, SGCD, TCAP, EMD, SYNE2, TMEM43, SYNE1, ACTA1 , (...) View the complete list with 37 more genes Panel GTR000530654 complete gene list CAVIN4, XK, SPEG, TOR1AIP1, MYL3, MYL2, PRKAG2, TNNI3, KCNE3, LAMP2, CACNA1C, LAMA2, KCNJ2, SGCD, TCAP, EMD, SYNE2, TMEM43, SYNE1, ACTA1, FHL1, BAG3, BSCL2, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, CAV3, FKRP, LMNA, CAPN3, SGCB, SGCA, FKTN, HRAS, DMD, DOLK, SDHA, PMM2, SLC22A5, FXN, SURF1, PHKA1, TAZ, SCO2, COQ2, SLC25A3, CAVIN1, AGK, CRYAB, SLC25A4, DLD, GAA, AGL Specificity 4 % Genes 10 %
Invitae Hypertrophic Cardiomyopathy Panel. By Invitae in United States. VCL, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, LAMP2, CACNA1C, TCAP, MYBPC3, FHL1, BAG3, FLNC, MYH7 , (...) View the complete list with 6 more genes Panel GTR000514924 complete gene list VCL, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, LAMP2, CACNA1C, TCAP, MYBPC3, FHL1, BAG3, FLNC, MYH7, DES, CAV3, GLA, GAA, AGL, TTR Specificity 4 % Genes 5 %
CACNA1C-Related Disorders: CACNA1C Gene Sequencing. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. CACNA1C Specificity 100 % Genes 5 %
Autism Spectrum Disorders: Tier 2 Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. NR1I3, SMARCB1, MAGEL2, UBE2A, AFF2, NLGN3, NLGN4X, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, VPS13B, ZEB2, RAB39B, CASK , (...) View the complete list with 42 more genes Panel GTR000512587 complete gene list NR1I3, SMARCB1, MAGEL2, UBE2A, AFF2, NLGN3, NLGN4X, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, VPS13B, ZEB2, RAB39B, CASK, OPHN1, KDM5C, PHF6, FGD1, ATRX, CNTNAP2, TCF4, PNKP, NRXN1, PAFAH1B1, RELN, PQBP1, BCKDK, MBD5, FOLR1, L1CAM, SCN1A, NSD1, NIPBL, SMC1A, SLC2A1, RAI1, PTPN11, PCDH19, MEF2C, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, ALDH5A1, SLC9A6, MECP2, NHS, HPRT1, ADSL, PTEN, UBE3A, FMR1 Specificity 2 % Genes 5 %
Autism NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. AVPR1A, BDNF, SLC6A4, AUTS2, DOCK4, GABRG1, GNA14, IMMP2L, KATNAL2, KCTD13, KLHL3, NEGR1, PDE10A, PIP5K1B, PON3, SATB2, SMG6, SOX5, ST7, STK3 , (...) View the complete list with 80 more genes Panel GTR000509342 complete gene list AVPR1A, BDNF, SLC6A4, AUTS2, DOCK4, GABRG1, GNA14, IMMP2L, KATNAL2, KCTD13, KLHL3, NEGR1, PDE10A, PIP5K1B, PON3, SATB2, SMG6, SOX5, ST7, STK3, ZNF507, ZNF804A, ZNHIT6, CNTNAP5, DLGAP2, DPP10, DPP6, GRPR, PCDH9, SLC9A9, SNRPN, RPL10, NLGN3, NLGN4X, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, NTNG1, PTCHD1, SHANK2, SHANK3, VPS13B, ZEB2, RAB39B, CASK, OPHN1, KDM5C, PHF6, FGD1, ATRX, CNTNAP2, TCF4, PNKP, ANKRD11, NRXN1, RBFOX1, PAFAH1B1, RELN, PQBP1, MBD5, GRIN2B, FOLR1, SCN2A, GABRB3, L1CAM, SPAST, SCN1A, MET, NSD1, NIPBL, TSC1, SMC1A, TSC2, RAI1, PTPN11, PCDH19, MEF2C, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, SLC9A6, MECP2, NHS, HPRT1, PTEN, UBE3A, FMR1 Specificity 1 % Genes 5 %
Timothy, syndromeÃ?Â?Ã?Â . By Bioarray in Spain. CACNA1C Specificity 100 % Genes 5 %
Warfarin Panel. By Castle Medical Molecular Diagnostics Castle Medical, LLC in United States. CYP4F2, CYP2C9, VKORC1, GGCX, CACNA1C Specificity 20 % Genes 5 %
Timothy Syndrome , Sequencing CACNA1C Gene. By Reference Laboratory Genetics in Spain. CACNA1C Specificity 100 % Genes 5 %
Phosphorus Hypertrophic Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel. By Phosphorus Diagnostics LLC in United States. VCL, ACTN2, TNNT2, TPM1, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, A2ML1, RRAS, SPRED1, LAMP2, RASA1, CACNA1C, TCAP, FHL1, BAG3, LDB3, FLNC , (...) View the complete list with 29 more genes Panel GTR000556375 complete gene list VCL, ACTN2, TNNT2, TPM1, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, A2ML1, RRAS, SPRED1, LAMP2, RASA1, CACNA1C, TCAP, FHL1, BAG3, LDB3, FLNC, MYH7, DES, NF1, CAV3, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, BRAF, MTO1, RAF1, CPT2, ELAC2, GAA, ACADVL, AGL, MYL3, MYL2, CSRP3, MYBPC3, TTR Specificity 3 % Genes 5 %
Phosphorus Hypertrophic Cardiomyopathy Panel. By Phosphorus Diagnostics LLC in United States. VCL, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, LAMP2, CACNA1C, TCAP, MYBPC3, FHL1, BAG3, LDB3, FLNC , (...) View the complete list with 7 more genes Panel GTR000558190 complete gene list VCL, MYL3, MYL2, CSRP3, ACTN2, TNNT2, TPM1, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, LAMP2, CACNA1C, TCAP, MYBPC3, FHL1, BAG3, LDB3, FLNC, MYH7, DES, CAV3, GLA, GAA, AGL, TTR Specificity 4 % Genes 5 %
Arrhythmogenic Right Ventricular Dysplasia 9 - PKP2 Sequencing. By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States. PKP2 Specificity 100 % Genes 5 %
ARVC panel. By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada. DSC2, DSG2, PKP2, TMEM43, DSP Specificity 20 % Genes 5 %
Arrhymogenic Right Ventricular Cardiomyopathy Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. DSC2, JUP, DSG2, PLN, TGFB3, RYR2, PKP2, TMEM43, LDB3, DES, TTN, LMNA, DSP Specificity 8 % Genes 5 %
ARVC panel. By Molecular Cardiology Laboratories Istituti Clinici Scientifici Maugeri, IRCCS in Italy. DSC2, JUP, DSG2, RYR2, PKP2, DSP Specificity 17 % Genes 5 %
Arrhythmogenic Right Ventricular Cardiomyopathy Sequencing Panel. By GeneDx in United States. DSC2, JUP, DSG2, RYR2, PKP2, TMEM43, DSP Specificity 15 % Genes 5 %
PKP2 mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. PKP2 Specificity 100 % Genes 5 %
DSC2, DSG2, DSP, JUP, PKP2, RYR2 (30 exones), TGFB3. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. DSC2, JUP, DSG2, TGFB3, RYR2, PKP2, DSP Specificity 15 % Genes 5 %
PKP2, DSP, DSG2, DSC2, JUP, TGFB3, RYR2. (30 exones) NextGeneDx.Complete Sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. DSC2, JUP, DSG2, TGFB3, RYR2, PKP2, DSP Specificity 15 % Genes 5 %
Arrhythmogenic right ventricular dysplasia (ARVD, NGS panel for 7 genes). By CGC Genetics in Portugal. DSC2, JUP, DSG2, RYR2, PKP2, TMEM43, DSP Specificity 15 % Genes 5 %
Arrhythmogenic right ventricular dysplasia 9 (sequence analysis of PKP2 gene). By CGC Genetics in Portugal. PKP2 Specificity 100 % Genes 5 %
ARVD/C9. By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States. PKP2 Specificity 100 % Genes 5 %
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia via the PKP2 Gene. By PreventionGenetics PreventionGenetics in United States. PKP2 Specificity 100 % Genes 5 %
Malformations of Cortical Development. By MGZ Medical Genetics Center in Germany. DSC2, JUP, DSG2, TGFB3, TRDN, RYR2, PKP2, EFHC1, TMEM43, DES, FGFR3, DSP Specificity 9 % Genes 5 %
Arrhythmogenic right ventricular cardiomyopathy panel. By Centogene AG - the Rare Disease Company in Germany. DSC2, JUP, DSG2, RYR2, PKP2, TMEM43, DSP Specificity 15 % Genes 5 %
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 9, PKP2. By GGA - Galil Genetic Analysis in Israel. PKP2 Specificity 100 % Genes 5 %
Arrhythmogenic Right Ventricular Dysplasia/ Cardiomyopathy. By Asper Biogene Asper Biogene LLC in Estonia. CTNNA3, DSC2, JUP, DSG2, PLN, TGFB3, RYR2, PKP2, TMEM43, LDB3, DES, TTN, LMNA, DSP Specificity 8 % Genes 5 %
Dilated cardiomyopathy with alteration of the right ventricle. By Health in Code in Spain. DSC2, DSG2, PKP2, DSP Specificity 25 % Genes 5 %
Arrhytmogenic right ventricular dysplasia Stage 1. By Health in Code in Spain. DSC2, DSG2, PKP2, DSP Specificity 25 % Genes 5 %
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. DSC2, JUP, DSG2, RYR2, PKP2, TMEM43, DSP Specificity 15 % Genes 5 %
PKP2 Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. PKP2 Specificity 100 % Genes 5 %
Arrhythmogenic Right Ventricle Dysplasia Type 9, Deletions-Duplications (MLPA) PKP2 Gene. By Reference Laboratory Genetics in Spain. PKP2 Specificity 100 % Genes 5 %
Hypertrophic Cardiomyopathy Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. MYL3, MYL2, CSRP3, ACTN2, MYOZ2, TNNT2, TPM1, DSG2, NEXN, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, PDLIM3, PKP2, LAMP2, MYBPC3, MYH7, TTN , (...) View the complete list with 4 more genes Panel GTR000558811 complete gene list MYL3, MYL2, CSRP3, ACTN2, MYOZ2, TNNT2, TPM1, DSG2, NEXN, PLN, PRKAG2, TNNI3, TNNC1, ACTC1, PDLIM3, PKP2, LAMP2, MYBPC3, MYH7, TTN, PTPN11, GLA, RAF1, TTR Specificity 5 % Genes 5 %
Test for Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 9. By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada. PKP2 Specificity 100 % Genes 5 %
Arrhythmogenic right ventricular cardiomyopathy - full panel. By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario in Canada. DSC2, JUP, DSG2, RYR2, PKP2, TMEM43, DSP Specificity 15 % Genes 5 %
Arrhythmogenic right ventricular cardiomyopathy - familial variant analysis. By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario in Canada. DSC2, JUP, DSG2, RYR2, PKP2, TMEM43, DSP Specificity 15 % Genes 5 %
Arrhythmogenic Right Ventricular Cardiomyopathy. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. DSC2, JUP, DSG2, TGFB3, RYR2, PKP2, TMEM43, MYBPC3, MYH7, TTN, LMNA, DSP Specificity 9 % Genes 5 %
PKP2. By Institute for Human Genetics University Clinic Freiburg in Germany. PKP2 Specificity 100 % Genes 5 %
Arrhythmogenic Right Ventricular Cardiomyopathy Del/Dup Panel. By GeneDx in United States. DSC2, JUP, DSG2, RYR2, PKP2, TMEM43, DSP Specificity 15 % Genes 5 %
ARVCNext. By Ambry Genetics in United States. DSC2, JUP, DSG2, TGFB3, RYR2, PKP2, TMEM43, LMNA, DSP Specificity 12 % Genes 5 %
DSG2, DSP, PKP2. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. DSG2, PKP2, DSP Specificity 34 % Genes 5 %
PKP2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PKP2 Specificity 100 % Genes 5 %
Arrhythmogenic right ventricular dysplasia - dominat (ARVD, NGS panel for 3 genes). By CGC Genetics in Portugal. DSG2, PKP2, DSP Specificity 34 % Genes 5 %
Arrhythmogenic right ventricular dysplasia - dominat (ARVD, deletion/duplication analysis of PKP2, DSP, JUP, DSC2, DSG2, TGFB3, RYR2 genes). By CGC Genetics in Portugal. DSC2, JUP, DSG2, TGFB3, RYR2, PKP2, DSP Specificity 15 % Genes 5 %
Arrhythmogenic right ventricular dysplasia - dominat (ARVD, deletion/duplication analysis of PKP2, DSP, JUP, DSC2, DSG2, TGFB3, RYR2 genes). By CGC Genetics in Portugal. DSC2, JUP, DSG2, TGFB3, RYR2, PKP2, DSP Specificity 15 % Genes 5 %
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. DSC2, JUP, DSG2, TGFB3, RYR2, PKP2, TMEM43, DES, DSP Specificity 12 % Genes 5 %
ARVC Panel. By FirmaLab in United States. DSC2, JUP, DSG2, TGFB3, RYR2, PKP2, TMEM43, DSP Specificity 13 % Genes 5 %
arrhythmogenic right ventricular cardiomyopathy/dysplasia. By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany. PKP2 Specificity 100 % Genes 5 %
PKP2. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. PKP2 Specificity 100 % Genes 5 %
Arrhythmogenic right ventricular cardiomyopathy type 9. By Centogene AG - the Rare Disease Company in Germany. PKP2 Specificity 100 % Genes 5 %
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) Panel. By CeGaT GmbH in Germany. CTNNA3, DSC2, JUP, DSG2, PLN, TGFB3, RYR2, PKP2, TMEM43, DES, TTN, LMNA, DSP Specificity 8 % Genes 5 %
Arrhythmogenic right-venticular cardiomyopathy, PKP2. By GGA - Galil Genetic Analysis in Israel. PKP2 Specificity 100 % Genes 5 %
PKP2 gene sequencing. By Health in Code in Spain. PKP2 Specificity 100 % Genes 5 %
Dilated cardiomyopathy with frequent ventricular arrhythmias Stage 2. By Health in Code in Spain. DSC2, DSG2, PKP2, DSP Specificity 25 % Genes 5 %
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 9. By Clinical Genomics Maastricht University Medical Centre in Netherlands. PKP2 Specificity 100 % Genes 5 %
CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR (ARVC). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. DSC2, JUP, DSG2, TGFB3, RYR2, PKP2, TMEM43, TTN, DSP Specificity 12 % Genes 5 %
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. CTNNA3, DSC2, JUP, DSG2, RYR2, PKP2, TMEM43, DSP Specificity 13 % Genes 5 %
PKP2. By Fulgent Genetics Fulgent Genetics in United States. PKP2 Specificity 100 % Genes 5 %
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Panel. By Blueprint Genetics in Finland. CDH2, CTNNA3, DSC2, JUP, DSG2, PLN, TGFB3, RYR2, PKP2, TMEM43, LDB3, FLNC, MYH7, DES, TTN, LMNA, DSP Specificity 6 % Genes 5 %
Familial isolated arrhythmogenic right ventricular dysplasia type 9. By Bioarray in Spain. PKP2 Specificity 100 % Genes 5 %
Arrhythmogenic Right Ventricular Cardiomyopathy. By Genomics and Pathology Services Washington University in St. Louis in United States. DSC2, JUP, DSG2, RYR2, PKP2, TMEM43, DES, DSP Specificity 13 % Genes 5 %
Arrhythmogenic Right Ventricular Cardiomyopathy Panel. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. CTNNA3, DSC2, JUP, DSG2, TGFB3, RYR2, PKP2, TMEM43, DSP Specificity 12 % Genes 5 %
PKP2 Gene, entire coding region or targeted variant. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. PKP2 Specificity 100 % Genes 5 %
FAMILIAL ISOLATED ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA. By Laboratorio de Genetica Clinica SL in Spain. DSC2, JUP, DSG2, TGFB3, RYR2, PKP2, TMEM43, DSP Specificity 13 % Genes 5 %
FAMILIAL ISOLATED ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA: NGS PANEL. By Laboratorio de Genetica Clinica SL in Spain. CTNNA3, DSC2, JUP, DSG2, TGFB3, RYR2, PKP2, TMEM43, DES, DSP Specificity 10 % Genes 5 %
Arrhythmogenic Right Ventricle Dysplasia Type 9 , Sequencing PKP2 Gene. By Reference Laboratory Genetics in Spain. PKP2 Specificity 100 % Genes 5 %
Arrhythmogenic Right Ventricle Dysplasia , Panel Massive Sequencing (NGS) 9 Genes. By Reference Laboratory Genetics in Spain. DSC2, JUP, DSG2, TGFB3, RYR2, PKP2, TMEM43, TTN, DSP Specificity 12 % Genes 5 %
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Panel (ARVD/ARVC Panel). By Labor Dr. Wisplinghoff in Germany. DSC2, JUP, DSG2, TGFB3, RYR2, PKP2, TMEM43, DES, TTN, LMNA, DSP Specificity 10 % Genes 5 %
CALM2. By Institute for Human Genetics University Clinic Freiburg in Germany. CALM2 Specificity 100 % Genes 5 %
Catecholaminergic polymorphic ventricular tachycardia NGS panel. By Connective Tissue Gene Tests in United States. TECRL, CALM3, CASQ2, TRDN, CALM2, CALM1, RYR2, ANK2, KCNJ2 Specificity 12 % Genes 5 %
Catecholaminergic polymorphic ventricular tachycardia Comprehensive panel. By Connective Tissue Gene Tests in United States. TECRL, CALM3, CASQ2, TRDN, CALM2, CALM1, RYR2, ANK2, KCNJ2 Specificity 12 % Genes 5 %
Ventricular tachycardia, catecholaminergic polymorphic type 3. By Centogene AG - the Rare Disease Company in Germany. CALM2 Specificity 100 % Genes 5 %
Invitae Catecholaminergic Polymorphic Ventricular Tachycardia Panel. By Invitae in United States. CALM3, CASQ2, TRDN, CALM2, CALM1, RYR2, ANK2, KCNJ2 Specificity 13 % Genes 5 %
CALM2. By Fulgent Genetics Fulgent Genetics in United States. CALM2 Specificity 100 % Genes 5 %
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Panel. By Blueprint Genetics in Finland. TECRL, CALM3, CASQ2, TRDN, CALM2, CALM1, RYR2, ANK2, KCNJ2 Specificity 12 % Genes 5 %
Ventricular Tachycardia, Catecholaminergic Polymorphic Panel by NGS. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. CASQ2, TRDN, CALM2, CALM1, RYR2, ANK2, KCNJ2 Specificity 15 % Genes 5 %
CALM2 Gene, entire coding region or targeted variant. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. CALM2 Specificity 100 % Genes 5 %
Phosphorus Catecholaminergic Polymorphic Ventricular Tachycardia Panel. By Phosphorus Diagnostics LLC in United States. CALM3, CASQ2, TRDN, CALM2, CALM1, RYR2, ANK2, KCNJ2 Specificity 13 % Genes 5 %
Long QT Syndrome via the CALM2 Gene. By PreventionGenetics PreventionGenetics in United States. CALM2 Specificity 100 % Genes 5 %
Catecholaminergic polymorphic ventricular tachycardia Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. TECRL, CALM3, CASQ2, TRDN, CALM2, CALM1, RYR2, ANK2, KCNJ2 Specificity 12 % Genes 5 %
CALM2. By MVZ Dortmund Dr. Eberhard & Partner in Germany. CALM2 Specificity 100 % Genes 5 %
SLMAP. By Institute for Human Genetics University Clinic Freiburg in Germany. SLMAP Specificity 100 % Genes 5 %
Brugada Syndrome via the SLMAP Gene. By PreventionGenetics PreventionGenetics in United States. SLMAP Specificity 100 % Genes 5 %
Brugada syndrome type 9. By Centogene AG - the Rare Disease Company in Germany. SLMAP Specificity 100 % Genes 5 %
SLMAP. By Fulgent Genetics Fulgent Genetics in United States. SLMAP Specificity 100 % Genes 5 %
AKAP9. By Institute for Human Genetics University Clinic Freiburg in Germany. AKAP9 Specificity 100 % Genes 5 %
Long QT syndrome 11 (sequence analysis of AKAP9 gene). By CGC Genetics in Portugal. AKAP9 Specificity 100 % Genes 5 %
Long QT Syndrome via the AKAP9 Gene. By PreventionGenetics PreventionGenetics in United States. AKAP9 Specificity 100 % Genes 5 %
Long QT Syndrome 11. By MVZ Dortmund Dr. Eberhard & Partner in Germany. AKAP9 Specificity 100 % Genes 5 %
AKAP9. By Fulgent Genetics Fulgent Genetics in United States. AKAP9 Specificity 100 % Genes 5 %
AKAP9 Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. AKAP9 Specificity 100 % Genes 5 %
Caris MI TumorSeek 592-Gene NGS Panel. By Caris Life Sciences in United States. ETV1, BCL3, SET, ELL, BTG1, ADGRA2, ACSL3, AFF1, ACSL6, ACKR3, RABEP1, PSIP1, RANBP17, RAD51B, RPL22, SDC4, SH3GL1, REL, SLC45A3, SYK , (...) View the complete list with 571 more genes Panel GTR000560898 complete gene list ETV1, BCL3, SET, ELL, BTG1, ADGRA2, ACSL3, AFF1, ACSL6, ACKR3, RABEP1, PSIP1, RANBP17, RAD51B, RPL22, SDC4, SH3GL1, REL, SLC45A3, SYK, TCL1A, SPECC1, SPEN, SNX29, SOCS1, SPOP, SSX1, SS18, STAT4, SRGAP3, TCEA1, SRSF3, ZNF331, THRAP3, NSD3, TFRC, SEPT5, TFPT, WWTR1, XPO1, ZNF217, ZNF521, ZMYM2, TRIM27, TLX3, TNFRSF17, TTL, TPR, TRAF7, TRRAP, TNFRSF14, TRIM26, VEGFB, USP6, TMPRSS2, VTI1A, PLAG1, PRCC, POU2AF1, PIM1, POU5F1, PRDM1, HERPUD1, HIST1H3B, HEY1, JAK1, JUN, HOOK3, HOXA9, KLHL6, IL6ST, JAZF1, IKBKE, HSP90AB1, HSP90AA1, KLK2, ASPSCR1, LRP1B, LCP1, LGR5, LPP, ARNT, BCL2L11, ARHGEF12, BCL2L2, AURKB, LMO1, KTN1, ATF1, LRIG3, LASP1, ARFRP1, ARHGAP26, LHFPL6, AFDN, MLLT11, MDM4, MLLT10, MAP2K4, BCL9, BRD3, MRTFA, MCL1, EMSY, MAML2, WDCP, BCL7A, MSN, NUTM1, CARS, CHCHD7, CHEK1, CHIC2, CNOT3, NUP98, OMD, CRTC1, CRTC3, COPB1, CNTRL, PDE4DIP, DDX6, PATZ1, PCSK7, DDX5, PDCD1, PBRM1, DDIT3, DAXX, PAFAH1B2, DDX10, PDCD1LG2, EPHB1, ELK4, PER1, EIF4A2, EPHA3, EBF1, DOT1L, EPHA5, EPS15, ECT2L, ELF4, FEV, FGF6, FCRL4, ERC1, FBXO11, ERG, FHIT, TENT5C, FOXO4, FOXO3, MTCP1, HOXD11, HIST1H4I, TLX1, CCDC6, CBFA2T3, FSTL3, RMI2, TPM4, C15orf65, OLIG2, COX6C, HLF, MLLT6, SEPT6, TAL2, HOXC11, LMO2, FNBP1, RAP1GDS1, FGFR1OP, MDS2, LYL1, SFPQ, GMPS, WIF1, TRIM33, H3F3B, GID4, ZNF703, MEF2B, AURKA, TOP1, P2RY8, FGF4, SUZ12, FGF19, H3F3A, KLF4, BCL11B, NUTM2B, ETV4, TFEB, NR4A3, MSI2, CREB3L2, TFE3, FOXO1, CD74, RAC1, RICTOR, RALGDS, KDM5A, ATP1A1, ERBB4, PPP2R1A, CLTC, SLC34A2, CIC, TET1, BCL11A, AXL, NONO, CLTCL1, PRRX1, NUP93, RNF43, HOXC13, CDKN2C, MECOM, RPN1, BIRC3, MYC, BCL6, SMO, YWHAE, CDKN2B, MLLT1, CLP1, MLLT3, MN1, NUP214, AFF3, TAL1, ZBTB16, FIP1L1, PBX1, TCF3, RARA, ERCC1, CBFB, ERBB2, HNRNPA2B1, PICALM, NUMA1, DEK, PML, CHN1, MAFB, RNF213, GPHN, DDR2, MDM2, IGF1R, ETV5, MALT1, IL21R, ABL2, DDB2, CDK12, BCL2, CCND1, XPC, KAT6A, CD79B, CD79A, TRIP11, LIFR, KIAA1549, KDSR, TNFAIP3, ZNF384, KDR, FLT1, CYLD, HOXD13, WISP3, NSD2, BUB1B, RAD51, XPA, ERCC5, CAMTA1, ATP2B3, PDGFB, PDGFRB, DICER1, PAX8, WRN, TCF12, NIN, CTCF, EZR, KNL1, CDK6, MUC1, FLI1, RUNX1T1, SRC, MAP3K1, HOXA13, CCND2, MNX1, NTRK2, AFF4, CARD11, POT1, NOTCH2, PRKDC, PIK3R1, CTLA4, NFKB2, CIITA, NFKBIA, BCR, PTPRC, STAT5B, ITK, FAS, EXT1, EXT2, AKT1, AKT3, PIK3R2, GNA11, IL7R, CBLC, BCORL1, CBLB, CSF3R, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, EGFR, NPM1, FLT3, HOXA11, GNAQ, AKT2, CSF1R, GAS7, FUBP1, NCOA2, CD274, NCOA1, CDK8, CCND3, NFIB, MYB, CDH11, CCNB1IP1, CDX2, NACA, NCKIPSD, GOPC, GSK3B, TCF7L2, GOLGA5, HIP1, HMGA2, IRF4, HMGA1, PCM1, IRS2, CREB1, RBM15, FOXA1, PIK3CG, CRKL, PAX7, RHOH, TAF15, EWSR1, UBR5, AXIN1, ABI1, CRLF2, MLF1, INHBA, LCK, IL2, BCL10, ESR1, SS18L1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, KIF5B, GNA13, EML4, BRD4, ARAF, NFE2L2, KEAP1, CCNE1, MYCN, PIK3CA, ERCC4, VEGFA, CDKN1B, BAP1, CYP2D6, FANCD2, FANCL, FANCE, FANCF, FANCG, FANCA, SMAD2, CREB3L1, GNAS, CALR, SH2B3, JAK3, ASXL1, KIT, EP300, FGF10, FLT4, NT5C2, ARID1A, SMARCB1, SMARCA4, KMT2A, SMARCE1, ARID2, ERBB3, PRDM16, NKX2-1, TERT, MAF, CTNNA1, TFG, KDM6A, AKAP9, KCNJ5, MITF, EZH2, DNMT3A, MYH11, TGFBR2, NOTCH1, ATR, MTOR, RPL10, CANT1, RPL5, GATA1, KAT6B, CTNNB1, FOXP1, MED12, MYH9, GATA3, FGF3, SOX10, PAX3, ERCC3, ERCC2, HGF, CACNA1D, SETBP1, KDM5C, PAK3, PHF6, ATRX, TBL1XR1, SETD2, KMT2D, STIL, GRIN2A, FGF14, TPM3, FUS, PDK1, FGF23, FGFR1, NF1, CNBP, NTRK1, DNM2, NDRG1, BTK, WAS, MPL, PMS1, BARD1, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, NSD1, TSC1, CBL, RAD21, TSC2, MAP2K2, FGFR2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, CREBBP, BRAF, BLM, FANCC, AR, FGFR3, TSHR, MEN1, STAT3, SEPT9, NCOA4, SOX2, BCOR, AMER1, ATIC, ALDH2, SDHB, IDH2, FH, RAF1, POLE, SDHC, CASP8, ELN, RET, SDHAF2, RB1, WT1, COL1A1, PPARG, HNF1A, FOXL2, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC, VHL, BRCA2, BRCA1 Specificity 1 % Genes 5 %
CEN4GEN Prostate cancer: Extended gene sequencing Panel. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. SPOP, ZNF473, THSD7B, ZNF595, KDM4B, NRCAM, OR5L1, PDZRN3, NKX3-1, NIPA2, KLF6, GLI1, MYC, CDK12, SCN11A, TBX20, PIK3CA, CDKN1B, AKAP9, MED12 , (...) View the complete list with 8 more genes Panel GTR000560397 complete gene list SPOP, ZNF473, THSD7B, ZNF595, KDM4B, NRCAM, OR5L1, PDZRN3, NKX3-1, NIPA2, KLF6, GLI1, MYC, CDK12, SCN11A, TBX20, PIK3CA, CDKN1B, AKAP9, MED12, KMT2D, CDKN2A, AR, ZFHX3, RB1, TP53, PTEN, APC Specificity 4 % Genes 5 %
Long QT syndrome type 11. By Centogene AG - the Rare Disease Company in Germany. AKAP9 Specificity 100 % Genes 5 %
Long QT syndrome type XI. By Bioarray in Spain. AKAP9 Specificity 100 % Genes 5 %
AKAP9 Gene, entire coding region or targeted variant. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. AKAP9 Specificity 100 % Genes 5 %
RANGRF. By Institute for Human Genetics University Clinic Freiburg in Germany. RANGRF Specificity 100 % Genes 5 %
RANGRF. By Fulgent Genetics Fulgent Genetics in United States. RANGRF Specificity 100 % Genes 5 %
RANGRF Gene, entire coding region or targeted variant. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. RANGRF Specificity 100 % Genes 5 %
TRPM4 mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. TRPM4 Specificity 100 % Genes 5 %
Progressive Familial Heart Block via the TRPM4 Gene. By PreventionGenetics PreventionGenetics in United States. TRPM4 Specificity 100 % Genes 5 %
TRPM4. By Fulgent Genetics Fulgent Genetics in United States. TRPM4 Specificity 100 % Genes 5 %
TRPM4. By Institute for Human Genetics University Clinic Freiburg in Germany. TRPM4 Specificity 100 % Genes 5 %
Progressive familial heart block. By Centogene AG - the Rare Disease Company in Germany. TRPM4 Specificity 100 % Genes 5 %
Brugada Syndrome/TRPM4. By MVZ Dortmund Dr. Eberhard & Partner in Germany. TRPM4 Specificity 100 % Genes 5 %
TRPM4 Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. TRPM4 Specificity 100 % Genes 5 %
TRPM4 Gene, entire coding region or targeted variant. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. TRPM4 Specificity 100 % Genes 5 %
KCNE3. By Institute for Human Genetics University Clinic Freiburg in Germany. KCNE3 Specificity 100 % Genes 5 %
KCNE3. By Institute for Human Genetics University Clinic Freiburg in Germany. KCNE3 Specificity 100 % Genes 5 %
Brugada syndrome 6 (sequence analysis of KCNE3 gene). By CGC Genetics in Portugal. KCNE3 Specificity 100 % Genes 5 %
Non-dystrophic myotonias (NGS panel for 11 genes). By CGC Genetics in Portugal. KCNJ18, HINT1, KCNE3, KCNA1, CACNA1S, HSPG2, ATP2A1, CACNA1A, SCN4A, CAV3, CLCN1 Specificity 10 % Genes 5 %
Brugada Syndrome via the KCNE3 Gene. By PreventionGenetics PreventionGenetics in United States. KCNE3 Specificity 100 % Genes 5 %
Periodic Palsy. By MGZ Medical Genetics Center in Germany. KCNJ12, KCNE3, KCNJ2, RYR1, CACNA1S, SCN4A Specificity 17 % Genes 5 %
Brugada syndrome type 6. By Centogene AG - the Rare Disease Company in Germany. KCNE3 Specificity 100 % Genes 5 %
Bartter Syndrome incl. differential diagnosis Panel. By CeGaT GmbH in Germany. KCNJ18, KCNJ5, KCNE3, KCNJ2, CACNA1S, SCN4A Specificity 17 % Genes 5 %
Periodic paralysis Panel. By CeGaT GmbH in Germany. KCNJ5, KCNE3, KCNJ2, CACNA1S, SCN4A Specificity 20 % Genes 5 %
Hypokalemic periodic paralysis. By Praxis fuer Humangenetik Wien in Austria. KCNE3 Specificity 100 % Genes 5 %
Hypokalemic periodic paralysis. By MedGene in Slovakia. KCNE3 Specificity 100 % Genes 5 %
Non-dystrophic myotonias. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. KCNJ18, HINT1, KCNE3, KCNA1, CACNA1S, HSPG2, ATP2A1, CACNA1A, SCN4A, CAV3, CLCN1 Specificity 10 % Genes 5 %
Non-Dystrophic Myotonias , Panel Massive Sequencing (NGS) 9 Genes. By Reference Laboratory Genetics in Spain. KCNE3, KCNA1, CACNA1S, HSPG2, ATP2A1, CACNA1A, SCN4A, CAV3, CLCN1 Specificity 12 % Genes 5 %
Brugada Syndrome type 6. By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States. KCNE3 Specificity 100 % Genes 5 %
Non-dystrophic myotonia congenita panel. By Centogene AG - the Rare Disease Company in Germany. HINT1, KCNE3, KCNA1, CACNA1S, HSPG2, ATP2A1, CACNA1A, SCN4A, CAV3, CLCN1 Specificity 10 % Genes 5 %
Single gene testing KCNE3. By CeGaT GmbH in Germany. KCNE3 Specificity 100 % Genes 5 %
Brugada Syndrome 6. By MVZ Dortmund Dr. Eberhard & Partner in Germany. KCNE3 Specificity 100 % Genes 5 %
Long QT Syndrome 6. By MVZ Dortmund Dr. Eberhard & Partner in Germany. KCNE3 Specificity 100 % Genes 5 %
KCNE3. By Fulgent Genetics Fulgent Genetics in United States. KCNE3 Specificity 100 % Genes 5 %
Brugada syndrome type VI. By Bioarray in Spain. KCNE3 Specificity 100 % Genes 5 %
KCNE3 Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. KCNE3 Specificity 100 % Genes 5 %
KCNE3 Gene, entire coding region or targeted variant. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. KCNE3 Specificity 100 % Genes 5 %
Brugada syndrome (sequence analysis of GPD1L gene). By CGC Genetics in Portugal. GPD1L Specificity 100 % Genes 5 %
Brugada Syndrome type 2. By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States. GPD1L Specificity 100 % Genes 5 %
Brugada syndrome type 2. By Centogene AG - the Rare Disease Company in Germany. GPD1L Specificity 100 % Genes 5 %
Brugada Syndrome 2. By MVZ Dortmund Dr. Eberhard & Partner in Germany. GPD1L Specificity 100 % Genes 5 %
GPD1L. By Fulgent Genetics Fulgent Genetics in United States. GPD1L Specificity 100 % Genes 5 %
Brugada syndrome type II. By Bioarray in Spain. GPD1L Specificity 100 % Genes 5 %
GPD1L Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. GPD1L Specificity 100 % Genes 5 %
GPD1L Gene, entire coding region or targeted variant. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. GPD1L Specificity 100 % Genes 5 %
GPD1L. By Institute for Human Genetics University Clinic Freiburg in Germany. GPD1L Specificity 100 % Genes 5 %
Brugada Syndrome via the GPD1L Gene. By PreventionGenetics PreventionGenetics in United States. GPD1L Specificity 100 % Genes 5 %
Brugada syndrome type 2: GPD1L gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. GPD1L Specificity 100 % Genes 5 %
Brugada Syndrome Type 2, Sequencing GPD1L Gene. By Reference Laboratory Genetics in Spain. GPD1L Specificity 100 % Genes 5 %

Alternate names

Brugada Syndrome 5; Brgda5 Is also known as ;bangungut; dream disease; idiopathic ventricular fibrillation, brugada type; pokkuri death syndrome; sunds; sudden unexplained nocturnal death syndrome.

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