Panel Name, Specifity and genes Tested/covered |
Limb Girdle Muscular Dystrophy Advanced Evaluation.
By Athena Diagnostics Inc in United States.
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2 , (...)
View the complete list with 3 more genes
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD
Specificity
5 %
Genes
100 %
|
Muscular Dystrophy Advanced Evaluation.
By Athena Diagnostics Inc in United States.
TRIM32, CAVIN1, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, FHL1, CCDC78, SYNE1 , (...)
View the complete list with 13 more genes
TRIM32, CAVIN1, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, FHL1, CCDC78, SYNE1, TMEM43, SYNE2, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SMCHD1
Specificity
4 %
Genes
100 %
|
Congenital Muscular Dystrophy Advanced Sequencing Evaluation.
By Athena Diagnostics Inc in United States.
FKTN, POMGNT1, DNM2, LMNA, FKRP, FHL1, SELENON, POMT2, POMT1, TCAP, ISPD, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1 , (...)
View the complete list with 3 more genes
FKTN, POMGNT1, DNM2, LMNA, FKRP, FHL1, SELENON, POMT2, POMT1, TCAP, ISPD, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7
Specificity
5 %
Genes
100 %
|
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations.
By Athena Diagnostics Inc in United States.
PAX6, CPT2, SHH, SLC25A19, TUBA1A, FGFR3, ARX, WDR62, FKTN, PEX7, POMGNT1, DPYD, FKRP, POMT2, POMT1, LAMA2, LARGE1, MCPH1, ASPM, FOLR1 , (...)
View the complete list with 20 more genes
PAX6, CPT2, SHH, SLC25A19, TUBA1A, FGFR3, ARX, WDR62, FKTN, PEX7, POMGNT1, DPYD, FKRP, POMT2, POMT1, LAMA2, LARGE1, MCPH1, ASPM, FOLR1, COL4A1, ARFGEF2, CENPJ, DEAF1, DCX, EMX2, QARS, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B
Specificity
3 %
Genes
100 %
|
Epilepsy Advanced Sequencing and CNV Evaluation.
By Athena Diagnostics Inc in United States.
UBE3A, ALPL, ADSL, PAX6, CPT2, ATP6V0A2, HSD17B10, HPRT1, ADGRV1, SHH, POLG, SLC25A19, PANK2, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, SUCLA2 , (...)
View the complete list with 214 more genes
UBE3A, ALPL, ADSL, PAX6, CPT2, ATP6V0A2, HSD17B10, HPRT1, ADGRV1, SHH, POLG, SLC25A19, PANK2, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, SUCLA2, TUBA1A, CTSD, SLC25A22, ALG9, GRN, GLDC, AMT, SLC9A6, ALDH7A1, NDUFA1, L2HGDH, CYP27A1, TPP1, CLN3, WWOX, SLC6A8, FGFR3, ARX, CDKL5, CHRNA7, FOXG1, MEF2C, PCDH19, PLP1, RAI1, SLC2A1, WDR62, TSC2, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, GPC3, CLN6, CLN8, FKTN, PPT1, PEX7, POMGNT1, CLN5, PHGDH, PLA2G6, DPYD, CSTB, SCN1A, NOTCH3, FKRP, CACNA1A, KCNJ11, CASR, DYNC1H1, POMT2, POMT1, KCNA1, CACNB4, LAMA2, LARGE1, MCPH1, ASPM, ATP1A2, ATP1A3, CACNA1H, CHRNB2, CPA6, EFHC1, CRH, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, KCNH2, PRICKLE1, PRICKLE2, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, SYNJ1, STX1B, SLC35A2, SLC6A1, FOLR1, GABRB2, GABRD, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, SCN3A, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, HCN4, LMNB2, MBD5, KCNMA1, SCARB2, SCN5A, SLC4A10, ALG13, ASAH1, TBC1D24, PRIMA1, DEPDC5, PRRT2, BRAT1, PIGO, BCKDK, COL4A1, ARFGEF2, CENPJ, DEAF1, DCX, EMX2, QARS, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B, CTSF, DNAJC5, MFSD8, ATP13A2, KMT2D, CACNA2D1, RBFOX1, CACNA2D2, MAGI2, HNRNPU, SETD2, TBL1XR1, SPATA5, EEF1A2, KCNA2, DNM1, SIK1, SNAP25, PURA, KCNB1, SLC13A5, DOCK7, NR2F1, NEXMIF, SZT2, GNAO1, WDR45, ST3GAL3, KANSL1, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGN, PIGV, ANKRD11, PLCB1, SPTAN1, PNKP, SAMHD1, KCNJ10, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, KIF1BP, SERPINI1, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, SETBP1, ZEB2, TREX1, VPS13B, GFAP, VPS13A, TBX1, LBR, ATP2A2
Specificity
1 %
Genes
100 %
|
Neuromuscular Disorders Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.
ATP7A, TWNK, GAA, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, CRYAB, VCP, AGK, CAVIN1, DPM3, SUCLA2, PNPLA2, REEP1, POLG2, TK2, DPM1 , (...)
View the complete list with 124 more genes
ATP7A, TWNK, GAA, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, CRYAB, VCP, AGK, CAVIN1, DPM3, SUCLA2, PNPLA2, REEP1, POLG2, TK2, DPM1, TYMP, PHKA1, CHAT, SUCLG1, PYGM, PMM2, MGME1, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, FIG4, TRPV4, HSPB8, HSPB1, DNM2, LMNA, CLCN1, PABPN1, FKRP, CAV3, UBA1, DYSF, SCN4A, SGCE, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, ATP2A1, BSCL2, BAG3, FHL1, SELENON, CACNA1S, RYR1, SETX, DCTN1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, BICD2, DYNC1H1, VRK1, IGHMBP2, SYNE1, TMEM43, SYNE2, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SMCHD1, COLQ, MUSK, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, DNMT1, CHRNG, LAMP2, LAS1L, PLEKHG5, HINT1, GAN, FBXL4, AMPD1, COL12A1, GLE1, KLHL41, LIMS2, MYF6, TNPO3, TNNI2, MTMR14, HNRNPDL, SLC5A7, TOR1AIP1, POMK, STAC3, SPEG, LMOD3, GMPPB
Specificity
1 %
Genes
100 %
|
Test for POMT1-Related Muscle Diseases.
By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.
POMT1
Specificity
100 %
Genes
100 %
|
CMD panel.
By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.
FKTN, POMGNT1, FKRP, POMT2, POMT1
Specificity
20 %
Genes
100 %
|
Comprehensive Brain Malformation Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
UBE3A, PTEN, TUBB3, CC2D2A, OTX2, TMEM67, NPHP1, CEP290, SHH, SLC25A19, MECP2, TUBA1A, RARS2, MRPS16, SLC9A6, MKS1, SOX2, HESX1, ARX, CDKL5 , (...)
View the complete list with 86 more genes
UBE3A, PTEN, TUBB3, CC2D2A, OTX2, TMEM67, NPHP1, CEP290, SHH, SLC25A19, MECP2, TUBA1A, RARS2, MRPS16, SLC9A6, MKS1, SOX2, HESX1, ARX, CDKL5, DHCR7, FOXG1, WDR62, NIPBL, NSD1, PTCH1, FKTN, POMGNT1, TMEM216, AHI1, FKRP, FGF8, L1CAM, VRK1, POMT2, POMT1, LARGE1, MCPH1, ASPM, COL4A1, ARFGEF2, CENPJ, DCX, EMX2, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B, KIF1BP, OFD1, ATRX, PHF6, OPHN1, CASK, CUL4B, ZEB2, ACTB, ACTG1, MED12, LAMC3, UPF3B, EXOSC3, TSEN34, TSEN2, TGIF1, ZIC2, CEP152, NODAL, FOXH1, CDON, GLI2, CDK5RAP2, PCNT, ATR, NFIX, EZH2, GLI3, RAB3GAP2, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, DLL1, EOMES, GAS1, PIK3CA, RAB18, IER3IP1, RBBP8, MYCN, VLDLR, DISP1
Specificity
1 %
Genes
100 %
|
Comprehensive Neuromuscular Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN , (...)
View the complete list with 59 more genes
GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2, LMNA, PABPN1, FKRP, CAV3, DYSF, SCN4A, SGCE, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, BSCL2, BAG3, FHL1, SELENON, RYR1, TPM3, ACTA1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, VRK1, IGHMBP2, SYNE1, SYNE2, EMD, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, COLQ, MUSK, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7, CHRNG, RYR2, PLEKHG5, AMPD1, GLE1, TNNI2, MTMR14
Specificity
2 %
Genes
100 %
|
Congenital Muscular Dystrophy.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
DPM3, DPM1, FKTN, POMGNT1, LMNA, FKRP, SELENON, RYR1, DAG1, POMT2, POMT1, TCAP, ISPD, LAMA2, CHKB, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7
Specificity
5 %
Genes
100 %
|
Limb-Girdle Muscular Dystrophy.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
GAA, GNE, TRIM32, VCP, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT , (...)
View the complete list with 14 more genes
GAA, GNE, TRIM32, VCP, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, FHL1, SYNE1, SYNE2, EMD, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, COL6A2, COL6A3, COL6A1
Specificity
3 %
Genes
100 %
|
Cerebral Cortical Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago in United States.
TUBB3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, POMT2, POMT1, LARGE1, DCX, RAB3GAP1, RELN, TUBA8, PAFAH1B1, ADGRG1, TUBB2B, KIF1BP, ACTB, ACTG1 , (...)
View the complete list with 6 more genes
TUBB3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, POMT2, POMT1, LARGE1, DCX, RAB3GAP1, RELN, TUBA8, PAFAH1B1, ADGRG1, TUBB2B, KIF1BP, ACTB, ACTG1, LAMC3, RAB3GAP2, RAB18, VLDLR, OCLN, RTTN
Specificity
4 %
Genes
100 %
|
Cerebral Cortical Malformation Sequencing Panel.
By Genetic Services Laboratory University of Chicago in United States.
TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, LAMA2, B4GAT1, POMGNT2, LARGE1, B3GALNT2, ARFGEF2, DCX, NDE1 , (...)
View the complete list with 34 more genes
TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, LAMA2, B4GAT1, POMGNT2, LARGE1, B3GALNT2, ARFGEF2, DCX, NDE1, RAB3GAP1, RELN, TUBA8, FLNA, PAFAH1B1, ADGRG1, TUBB2B, KIF1BP, ACTB, ACTG1, LAMC3, TUBB2A, GPSM2, POMK, GMPPB, TUBB4A, RAB3GAP2, RAB18, VLDLR, AKT3, OCLN, CCND2, TBC1D20, RTTN, B3GNT2, CDK5, KATNB1, TUBG1, TUBB, KIF5C, KIF2A, ERMARD, ASNS, SNAP29
Specificity
2 %
Genes
100 %
|
Lissencephaly Sequencing Panel.
By Genetic Services Laboratory University of Chicago in United States.
TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, DCX, NDE1 , (...)
View the complete list with 16 more genes
TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, DCX, NDE1, RELN, PAFAH1B1, ADGRG1, TUBB2B, ACTB, ACTG1, POMK, GMPPB, VLDLR, CDK5, KATNB1, TUBG1, TUBB, KIF5C, SNAP29, LAMB1
Specificity
3 %
Genes
100 %
|
Comprehensive Lissencephaly Panel.
By Genetic Services Laboratory University of Chicago in United States.
TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, RXYLT1, LARGE1, B3GALNT2, DCX, RELN, PAFAH1B1 , (...)
View the complete list with 14 more genes
TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, RXYLT1, LARGE1, B3GALNT2, DCX, RELN, PAFAH1B1, ADGRG1, TUBB2B, ACTB, ACTG1, POMK, GMPPB, VLDLR, CDK5, KATNB1, TUBG1, TUBB, KIF5C, SNAP29, LAMB1
Specificity
3 %
Genes
100 %
|
Cobblestone Lissencephaly Panel.
By Genetic Services Laboratory University of Chicago in United States.
ATP6V0A2, SRD5A3, FKTN, POMGNT1, FKRP, POMT2, POMT1, ISPD, LAMA2, B4GAT1, RXYLT1, LARGE1, B3GALNT2, POMK, GMPPB, SNAP29, LAMB1
Specificity
6 %
Genes
100 %
|
Congenital Muscular Dystrophy Deletion/Duplication Analysis.
By Genetic Services Laboratory University of Chicago in United States.
GAA, DPM3, FKTN, POMGNT1, LMNA, FKRP, SELENON, RYR1, SYNE1, TRAPPC11, DAG1, POMT2, POMT1, ISPD, LAMA2, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1 , (...)
View the complete list with 6 more genes
GAA, DPM3, FKTN, POMGNT1, LMNA, FKRP, SELENON, RYR1, SYNE1, TRAPPC11, DAG1, POMT2, POMT1, ISPD, LAMA2, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, POMK
Specificity
4 %
Genes
100 %
|
Congenital Muscular Dystrophy Sequencing Panel.
By Genetic Services Laboratory University of Chicago in United States.
GAA, DPM3, DPM1, FKTN, POMGNT1, LMNA, FKRP, SELENON, RYR1, SYNE1, TRAPPC11, DAG1, POMT2, POMT1, ISPD, LAMA2, DPM2, POMGNT2, CHKB, COL6A2 , (...)
View the complete list with 7 more genes
GAA, DPM3, DPM1, FKTN, POMGNT1, LMNA, FKRP, SELENON, RYR1, SYNE1, TRAPPC11, DAG1, POMT2, POMT1, ISPD, LAMA2, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, POMK
Specificity
4 %
Genes
100 %
|
Limb-Girdle Muscular Dystrophy Sequencing Panel.
By Genetic Services Laboratory University of Chicago in United States.
GAA, TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, TRAPPC11, DNAJB6, DAG1 , (...)
View the complete list with 11 more genes
GAA, TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, LIMS2, TNPO3, HNRNPDL, POMK, GMPPB
Specificity
4 %
Genes
100 %
|
Cerebral Cortical Malformations Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago in United States.
TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, LAMA2, B4GAT1, POMGNT2, LARGE1, B3GALNT2, ARFGEF2, DCX, NDE1 , (...)
View the complete list with 34 more genes
TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, LAMA2, B4GAT1, POMGNT2, LARGE1, B3GALNT2, ARFGEF2, DCX, NDE1, RAB3GAP1, RELN, TUBA8, FLNA, PAFAH1B1, ADGRG1, TUBB2B, KIF1BP, ACTB, ACTG1, LAMC3, TUBB2A, GPSM2, POMK, GMPPB, TUBB4A, RAB3GAP2, RAB18, VLDLR, AKT3, OCLN, CCND2, TBC1D20, RTTN, B3GNT2, CDK5, KATNB1, TUBG1, TUBB, KIF5C, KIF2A, ERMARD, ASNS, SNAP29
Specificity
2 %
Genes
100 %
|
Limb-Girdle Muscular Dystrophy Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago in United States.
GAA, TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, TRAPPC11, DNAJB6, DAG1 , (...)
View the complete list with 11 more genes
GAA, TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, LIMS2, TNPO3, HNRNPDL, POMK, GMPPB
Specificity
4 %
Genes
100 %
|
Congenital Muscular Dystrophy- Dystroglycanopathy Sequencing Panel.
By Genetic Services Laboratory University of Chicago in United States.
FKTN, POMGNT1, FKRP, DAG1, POMT2, POMT1, ISPD, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, POMK, GMPPB
Specificity
8 %
Genes
100 %
|
Ataxia Exome Panel.
By Genetic Services Laboratory University of Chicago in United States.
FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)
View the complete list with 460 more genes
FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG, PAX6, PSEN1, INPP5E, AMACR, HSD17B4, CPS1, OPA1, WFS1, PSAP, GLB1, CC2D2A, ELOVL4, TMEM67, NPHP1, CEP290, DLD, POLG, NDUFS4, HSPD1, AFG3L2, FOXRED1, RRM2B, NDUFAF2, KIF1B, PANK2, OPA3, MECP2, COQ9, PDSS2, PDSS1, COQ6, ACO2, NDUFA12, HARS, NDUFB3, NDUFA9, COX14, ALDH18A1, PDHB, TMEM70, NDUFAF1, TTC19, MTPAP, NDUFA10, NUBPL, GPI, GAMT, SPR, STXBP1, COQ8A, RFT1, TUBA1A, RARS2, DARS2, TSFM, REEP1, DNAJC19, CTSD, MPDU1, FLVCR1, DPM1, GRN, COQ2, SPG7, ALG6, TYMP, ETHE1, SQSTM1, OTC, PDHA1, ABCB7, SLC9A6, ABCD1, MMADHC, TCN2, HEXA, SUOX, ALDH5A1, HEXB, PHYH, PTS, MPV17, CTSA, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, HIBCH, DBT, SUCLG1, DLAT, GALC, L2HGDH, GBE1, FXN, LRPPRC, FASTKD2, COX6B1, ASS1, CYP27A1, PMM2, MKS1, APTX, ASL, TPP1, WWOX, PNKD, SOD1, TACO1, FARS2, MTFMT, SDHA, PNP, ARSA, CDKL5, EIF2B1, FOXG1, GJC2, NPC1, NPC2, PCDH19, PLP1, SLC2A1, TINF2, WDR62, ATM, MRE11, NF2, SDHD, PRF1, CLN6, CLN8, FKTN, PEX2, PPT1, PEX7, SACS, TH, MLC1, PEX1, POMGNT1, SLC17A5, SUMF1, TTPA, CLN5, EIF2B5, PLA2G6, TMEM216, PRX, SH3TC2, MPZ, PMP22, EGR2, DNM2, GJB1, ATL1, ZFYVE26, EIF2B3, EIF2B2, EIF2B4, SPG11, CSTB, SCN1A, AHI1, FKRP, CACNA1A, GCH1, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, RTN2, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2, SETX, DYNC1H1, VRK1, SYNE1, TRAPPC11, POMT2, POMT1, ISPD, KCNA1, CACNB4, SLC1A3, SYT14, ANO10, TDP1, SIL1, GRM1, VAMP1, EEF2, KCND3, KCNC3, ITPR1, PDYN, FGF14, TGM6, TTBK2, SPTBN2, POMGNT2, LARGE1, ATP1A2, ATP1A3, GABRB3, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SLC19A3, SCN2A, SLC6A1, FOLR1, HCN1, KCNQ2, KCNC1, EPM2A, LMNB2, MBD5, SCARB2, TBC1D24, PRRT2, BRAT1, DCX, RELN, TSEN54, ADGRG1, CTSF, DNAJC5, MFSD8, ATP13A2, KCNA2, SNAP25, SLC13A5, ROGDI, SCN8A, SPTAN1, PNKP, KCNJ10, TCF4, OFD1, OPHN1, CASK, CUL4B, GFAP, HTRA1, CLPP, ERCC3, POLR1C, DNMT1, SOX10, SLC19A2, PRPS1, AP1S2, KIAA0586, PEX16, PEX26, PEX10, MVK, NEU1, DKC1, SLC16A2, CLCN2, EXOSC3, TSEN34, TSEN2, NALCN, MME, LRSAM1, GAN, IFT140, CAV1, NKX2-1, FBXL4, GMPPB, PIEZO2, CHMP1A, ERCC6, ERLIN1, KIDINS220, CAPN1, HACE1, MAG, CPT1C, ENTPD1, NT5C2, KIF1C, C19orf12, UCHL1, B4GALNT1, TUBB4A, GBA2, CYP2U1, DDHD2, TECPR2, DDHD1, ERLIN2, AP4S1, AP4B1, AP4E1, AP4M1, CTDP1, PGK1, HNRNPH2, RNASET2, CTC1, GJA1, FTL, CP, ERCC4, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, EOMES, VLDLR, MARS2, COX10, SCO1, MT-TP, COG4, PRNP, SLC46A1, TPK1, SLC20A2, APOB, ERCC8, LIG4, GCLC, GSS, SLC39A4, ADA2, SLC25A46, PGM3, TCTN3, SAMD9L, KIAA0556, CEP104, CEP120, TMEM107, PDE6D, CSPP1, HERC1, HEPACAM, DNAJC3, LRP4, TUBB, IBA57, ARL6IP1, CCDC88C, CA8, ZIC1, XRCC4, SEPSECS, TBCE, COX20, MECR, UBA5, NUP62, AAAS, NAXE, RARS, ATP8A2, ATP2B3, CTBP1, CACNA1G, CAMTA1, BEAN1, ATCAY, DOCK3, COL18A1, EBF3, SLC52A2, LAMA1, GRID2, NOL3, PIK3R5, PCNA, DMXL2, PTRH2, ELOVL5, RTN4IP1, RNASEH1, RNF216, SCYL1, ERCC5, RNF168, SLC6A19, TELO2, TRPC3, TDP2, VARS, ZIC4, NAT8L, OTUD4, PUM1, STUB1, ARV1, DGAT2, FGF12, ITM2B, LMNB1, YME1L1, MAPK10, SLC9A1, SLC52A3, COQ4, RUBCN, PMPCA, UROC1, TRNT1, XPA, ZNF592, COA5, WDR81, POLR3A, POLR3B, RNF170, PET100, PRDM8, CHCHD10, APOPT1, SNX14, TMEM240, WDR73, CWF19L1, VWA3B, THG1L, CHAMP1, PIGG
Specificity
1 %
Genes
100 %
|
POMT1.
By Institute for Human Genetics University Clinic Freiburg in Germany.
POMT1
Specificity
100 %
Genes
100 %
|
Comprehensive Brain Malformations Panel.
By GeneDx in United States.
TUBB3, INPP5E, CC2D2A, TMEM67, NPHP1, CEP290, TUBA1A, RARS2, MKS1, ARX, FKTN, POMGNT1, TMEM216, AHI1, FKRP, VRK1, POMT2, POMT1, LARGE1, ARFGEF2 , (...)
View the complete list with 24 more genes
TUBB3, INPP5E, CC2D2A, TMEM67, NPHP1, CEP290, TUBA1A, RARS2, MKS1, ARX, FKTN, POMGNT1, TMEM216, AHI1, FKRP, VRK1, POMT2, POMT1, LARGE1, ARFGEF2, DCX, NDE1, PQBP1, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, SRPX2, TUBB2B, OPHN1, CASK, LAMC3, TSEN34, TSEN2, TMEM237, TMEM138, RPGRIP1L, KIF7, CEP41, EOMES, VLDLR, OCLN
Specificity
3 %
Genes
100 %
|
Cortical Brain Malformations Panel.
By GeneDx in United States.
TUBB3, TUBA1A, ARX, FKTN, POMGNT1, FKRP, POMT2, POMT1, LARGE1, ARFGEF2, DCX, NDE1, PQBP1, RELN, TUBA8, FLNA, PAFAH1B1, ADGRG1, SRPX2, TUBB2B , (...)
View the complete list with 4 more genes
TUBB3, TUBA1A, ARX, FKTN, POMGNT1, FKRP, POMT2, POMT1, LARGE1, ARFGEF2, DCX, NDE1, PQBP1, RELN, TUBA8, FLNA, PAFAH1B1, ADGRG1, SRPX2, TUBB2B, LAMC3, EOMES, VLDLR, OCLN
Specificity
5 %
Genes
100 %
|
Lissencephaly Panel.
By GeneDx in United States.
ATP6V0A2, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, POMT2, POMT1, ISPD, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, DCX, NDE1, RELN, PAFAH1B1, ACTB , (...)
View the complete list with 4 more genes
ATP6V0A2, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, POMT2, POMT1, ISPD, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, DCX, NDE1, RELN, PAFAH1B1, ACTB, ACTG1, GMPPB, VLDLR, LAMB1
Specificity
5 %
Genes
100 %
|
POMT1. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
POMT1
Specificity
100 %
Genes
100 %
|
Limb-girdle muscular dystrophies (NGS panel for 26 genes).
By CGC Genetics in Portugal.
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2 , (...)
View the complete list with 6 more genes
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, TNPO3, HNRNPDL, GMPPB
Specificity
4 %
Genes
100 %
|
Walker-Warburg syndrome (sequence analysis of POMT1 gene).
By CGC Genetics in Portugal.
POMT1
Specificity
100 %
Genes
100 %
|
Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes).
By CGC Genetics in Portugal.
SLC25A19, DNM1L, RARS2, WDR62, DYNC1H1, VRK1, POMT1, MCPH1, ASPM, MBD5, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, DYRK1A, PNKP, OPHN1 , (...)
View the complete list with 32 more genes
SLC25A19, DNM1L, RARS2, WDR62, DYNC1H1, VRK1, POMT1, MCPH1, ASPM, MBD5, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, DYRK1A, PNKP, OPHN1, CASK, EXOSC3, TSEN34, TSEN2, CEP152, CDK5RAP2, PCNT, ATR, CHMP1A, AP4M1, STAMBP, KIF11, EFTUD2, IER3IP1, RBBP8, NHEJ1, LIG4, TUBG1, KIF5C, KIF2A, MED17, ZNF335, CEP135, KNL1, CEP63, NIN, AMPD2, SEPSECS, TUBGCP6, BUB1B, CLP1, VPS53
Specificity
2 %
Genes
100 %
|
Congenital muscular dystrophies (NGS panel for 31 genes).
By CGC Genetics in Portugal.
CAVIN1, DMD, FKTN, POMGNT1, DNM2, LMNA, PABPN1, FKRP, DYSF, TTN, ANO5, FHL1, SELENON, SYNE1, TMEM43, SYNE2, EMD, POMT2, POMT1, TCAP , (...)
View the complete list with 11 more genes
CAVIN1, DMD, FKTN, POMGNT1, DNM2, LMNA, PABPN1, FKRP, DYSF, TTN, ANO5, FHL1, SELENON, SYNE1, TMEM43, SYNE2, EMD, POMT2, POMT1, TCAP, ISPD, SMCHD1, LAMA2, DPM2, CHKB, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7, GMPPB
Specificity
4 %
Genes
100 %
|
Lissencephaly (NGS panel for 12 genes).
By CGC Genetics in Portugal.
TUBA1A, ARX, POMT2, POMT1, DCX, NDE1, RELN, PAFAH1B1, CDK5, KATNB1, LAMB1, YWHAE
Specificity
9 %
Genes
100 %
|
POMT1 Sequencing.
By University of Iowa Diagnostic Laboratories University of Iowa Hospitals and Clinics in United States.
POMT1
Specificity
100 %
Genes
100 %
|
Walker-Warburg Syndrome via POMT1 Gene Sequencing with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
POMT1
Specificity
100 %
Genes
100 %
|
Dystroglycan-Related Congenital Muscular Dystrophy Sequencing Panel.
By PreventionGenetics PreventionGenetics in United States.
DPM3, DPM1, FKTN, POMGNT1, FKRP, DAG1, POMT2, POMT1, ISPD, B4GAT1, DPM2, POMGNT2, RXYLT1, LARGE1, B3GALNT2, GOSR2, POMK, GMPPB
Specificity
6 %
Genes
100 %
|
Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel.
By PreventionGenetics PreventionGenetics in United States.
GAA, TRIM32, VCP, PNPLA2, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, TRAPPC11, DNAJB6 , (...)
View the complete list with 13 more genes
GAA, TRIM32, VCP, PNPLA2, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, TRAPPC11, DNAJB6, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SMCHD1, LIMS2, TNPO3, HNRNPDL, TOR1AIP1, POMK, GMPPB
Specificity
4 %
Genes
100 %
|
Congenital Muscular Dystrophy Sequencing Panel.
By PreventionGenetics PreventionGenetics in United States.
DPM3, DPM1, DMD, FKTN, POMGNT1, LMNA, FKRP, EMD, DAG1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3 , (...)
View the complete list with 7 more genes
DPM3, DPM1, DMD, FKTN, POMGNT1, LMNA, FKRP, EMD, DAG1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, COL12A1, POMK, GMPPB
Specificity
4 %
Genes
100 %
|
Comprehensive Neuromuscular Sequencing Panel.
By PreventionGenetics PreventionGenetics in United States.
AGL, GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, ISCU, CHAT, PFKM, PYGM, GBE1, DPAGT1, DMD, CHRNE , (...)
View the complete list with 104 more genes
AGL, GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, ISCU, CHAT, PFKM, PYGM, GBE1, DPAGT1, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2, LMNA, CLCN1, FKRP, CAV3, DYSF, SCN4A, TTN, KLHL9, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, ATP2A1, BAG3, FHL1, SELENON, CACNA1S, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, BICD2, SYNE1, TMEM43, EMD, TRAPPC11, DNAJB6, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SMCHD1, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, SNAP25, CHRNG, COL12A1, GLE1, KLHL41, LIMS2, TNPO3, TNNI2, HNRNPDL, TOR1AIP1, POMK, STAC3, LMOD3, GMPPB, TNNT3, MYH3, ECEL1, STIM1, MICU1, COL13A1, SYT2, PREPL, ALG14, HNRNPA2B1, HNRNPA1, MYO18B
Specificity
1 %
Genes
100 %
|
Hydrocephalus Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
PTEN, L1CAM, POMT1, AP1S2, FLVCR2, DNAI1, P4HB, ZIC3, PIK3R2, AKT3, CCND2, CRB2, CCDC88C, MPDZ, WDR81, EML1, HDAC6
Specificity
6 %
Genes
100 %
|
Limb girdle muscular dystrophy Comprehensive panel.
By Connective Tissue Gene Tests in United States.
GAA, TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, FHL1, EMD, TRAPPC11 , (...)
View the complete list with 15 more genes
GAA, TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, FHL1, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, LARGE1, LIMS2, TNPO3, HNRNPDL, TOR1AIP1, POMK, GMPPB
Specificity
3 %
Genes
100 %
|
Limb girdle muscular dystrophy Deletion / Duplication panel.
By Connective Tissue Gene Tests in United States.
GAA, TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, FHL1, EMD, TRAPPC11 , (...)
View the complete list with 15 more genes
GAA, TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, FHL1, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, LARGE1, LIMS2, TNPO3, HNRNPDL, TOR1AIP1, POMK, GMPPB
Specificity
3 %
Genes
100 %
|
Limb girdle muscular dystrophy NGS panel.
By Connective Tissue Gene Tests in United States.
GAA, TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, FHL1, EMD, TRAPPC11 , (...)
View the complete list with 15 more genes
GAA, TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, FHL1, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, LARGE1, LIMS2, TNPO3, HNRNPDL, TOR1AIP1, POMK, GMPPB
Specificity
3 %
Genes
100 %
|
Lissencephaly and related disorders NGS test.
By Connective Tissue Gene Tests in United States.
TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, DAG1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2 , (...)
View the complete list with 22 more genes
TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, DAG1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, DCX, NDE1, RELN, TUBA8, PAFAH1B1, ADGRG1, TUBB2B, ACTB, ACTG1, TUBB2A, POMK, GMPPB, VLDLR, CDK5, KATNB1, TUBG1, TUBB, KIF5C, KIF2A, SNAP29, LAMB1, TMTC3
Specificity
3 %
Genes
100 %
|
Lissencephaly and related disorders Deletion / Duplication test.
By Connective Tissue Gene Tests in United States.
TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, DAG1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2 , (...)
View the complete list with 22 more genes
TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, DAG1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, DCX, NDE1, RELN, TUBA8, PAFAH1B1, ADGRG1, TUBB2B, ACTB, ACTG1, TUBB2A, POMK, GMPPB, VLDLR, CDK5, KATNB1, TUBG1, TUBB, KIF5C, KIF2A, SNAP29, LAMB1, TMTC3
Specificity
3 %
Genes
100 %
|
Lissencephaly and related disorders Comprehensive test.
By Connective Tissue Gene Tests in United States.
TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, DAG1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2 , (...)
View the complete list with 22 more genes
TUBB3, ATP6V0A2, SRD5A3, TUBA1A, ARX, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, DAG1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, DCX, NDE1, RELN, TUBA8, PAFAH1B1, ADGRG1, TUBB2B, ACTB, ACTG1, TUBB2A, POMK, GMPPB, VLDLR, CDK5, KATNB1, TUBG1, TUBB, KIF5C, KIF2A, SNAP29, LAMB1, TMTC3
Specificity
3 %
Genes
100 %
|
Mental retardation - different panels.
By Institute of Human Genetics Cologne University in Germany.
FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)
View the complete list with 847 more genes
FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6, MTR, INPP5E, MTRR, PYCR1, CC2D2A, PRODH, ATP6V0A2, SRD5A3, HSD17B10, OCRL, ELOVL4, NDP, OTX2, HPRT1, NHS, TMEM67, ARL6, NPHP1, MKKS, CEP290, TTC8, TRIM32, SHH, DLD, NDUFS4, PANK2, RAF1, FH, SMPD1, MECP2, PDSS2, PDSS1, ACO2, NDUFA12, DDOST, ALDH18A1, DNM1L, ACSF3, CCDC28B, TAT, NUBPL, DPM3, PGM1, GAMT, GATM, AK1, SDHB, STXBP1, COQ8A, RFT1, MRPS22, TUBA1A, COG1, COG8, DARS2, TUSC3, HAX1, DNAJC19, CTSD, SLC25A22, MPDU1, DPM1, COG7, ALG9, ALG1, AP3B1, ALG8, ALG2, GRN, COQ2, ALG12, B4GALT1, GCSH, GLDC, AMT, SCO2, SLC35A1, GAD1, ALG6, MPI, ETHE1, STRA6, ALG3, D2HGDH, PUS1, HCCS, PDHA1, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, MMADHC, ABHD5, SUOX, ALDH5A1, ALDH3A2, SLC35C1, ACOX1, CA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, GUSB, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, NDUFA1, NDUFA11, NDUFS1, NDUFV1, NDUFS2, NDUFAF5, MMAA, MUT, CYB5R3, DBT, MANBA, MAN2B1, MLYCD, SLC25A15, L2HGDH, CBS, GALT, GALE, LRPPRC, MGAT2, PMM2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, APTX, ASL, SOX2, TPP1, CLN3, HESX1, PPOX, WWOX, FARS2, SLC6A8, PDHX, SDHA, ABCD4, AGA, AHCY, DOLK, DPAGT1, MOGS, HPD, MGME1, PNP, FGFR3, ASPA, ARX, BLM, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, GJC2, HRAS, IDS, IDUA, IKBKG, KRAS, MAP2K1, MEF2C, DMPK, NRAS, PCDH19, PLP1, PORCN, PTPN11, RAI1, RMRP, SHOC2, SLC2A1, SOS1, WDR62, FGFR2, SOS2, HDAC8, RIT1, MAP2K2, TSC2, RAD21, CBL, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, NBN, PTCH1, GPC3, SMAD4, CLN6, CLN8, FKTN, PPT1, PEX7, SLC35A3, TH, MCOLN1, PEX1, POMGNT1, SLC12A6, SLC17A5, CLN5, PHGDH, DPYD, TMEM216, FIG4, NTRK1, MT-TL1, ZFYVE26, MT-TK, MT-ATP6, SPG11, SCN1A, AHI1, FKRP, ATXN10, GCH1, NF1, FGFR1, KCNJ11, L1CAM, SLC33A1, BSCL2, WASHC5, KIF1A, SPART, CCDC78, DYNC1H1, VRK1, TRAPPC11, DAG1, POMT2, POMT1, ISPD, ANO10, SIL1, GRM1, LAMA2, DPM2, POMGNT2, CHKB, LARGE1, B3GALNT2, MCPH1, ASPM, ATP1A2, ATP1A3, GABRB3, KCTD7, ST3GAL5, SCN2A, SLC35A2, SLC6A1, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, CHD2, GABRA1, GRIN2A, MBD5, ALG13, ASAH1, TBC1D24, PRIMA1, DEPDC5, PRRT2, BRAT1, PIGO, COL4A1, ARFGEF2, CENPJ, DEAF1, DCX, EMX2, QARS, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, PAFAH1B1, ADGRG1, STIL, TUBB2B, CTSF, DNAJC5, MFSD8, ATP13A2, KMT2D, CACNA2D2, SETD2, TBL1XR1, SPATA5, EEF1A2, KCNA2, DNM1, SIK1, PURA, KCNB1, SLC13A5, DOCK7, NR2F1, NEXMIF, SZT2, GNAO1, WDR45, ST3GAL3, KANSL1, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGN, PIGV, ANKRD11, PLCB1, SPTAN1, PNKP, SAMHD1, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, KIF1BP, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, SETBP1, ZEB2, TREX1, VPS13B, GFAP, ATP2A2, SHANK3, SHANK2, SALL1, ACTB, ACTG1, ATP6V1B2, ERCC2, ERCC3, PNPT1, NLRP3, DIAPH1, SOX10, MT-TS1, PRPS1, PEX6, NARS2, FUCA1, PTCHD1, ADNP, MID1, MED12, LAMC3, FOXP1, EHMT1, CACNA1C, AP1S2, CHD8, HOXA1, TBR1, TMEM231, ARID1B, CTNNB1, NLGN4X, NLGN3, LZTR1, KIAA0586, PEX13, PEX26, PEX10, PEX12, PEX5, KAT6B, MVK, NEU1, CCBE1, PHF8, HUWE1, HCFC1, AFF2, MBTPS2, LAMP2, MAGT1, ZNF711, DKC1, DLG3, TSPAN7, UBE2A, UPF3B, USP9X, ZC4H2, GDI1, FTSJ1, RPS6KA3, SHROOM4, RPL10, RAB40AL, ZDHHC9, BRWD3, CLIC2, TAF1, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, LAS1L, EIF2S3, FRMPD4, CLCN4, CCDC22, CNKSR2, THOC2, SPRED1, NSUN2, RASA2, RRAS, NECAP1, MTOR, EXOSC3, TUBB2A, TGIF1, ZIC2, NALCN, CEP152, CDON, GLI2, CDK5RAP2, PCNT, ATR, NAGA, DYM, TGFBR1, TGFBR2, SKI, ACVR1, DNMT3A, NFIX, EZH2, GLI3, ABCC9, MAGEL2, KDM6A, DHTKD1, AARS, MED25, POC1B, MAF, SLC4A4, NKX2-1, EMC1, FBXL4, POMK, GMPPB, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, ERCC6, ARID2, SMARCE1, KMT2A, SMARCA4, SMARCB1, ARID1A, SMARCA2, HACE1, MAG, IFIH1, PGAP1, ENTPD1, NT5C2, B4GALNT1, TUBB4A, GBA2, CYP2U1, DDHD2, TECPR2, ADAR, VPS37A, ERLIN2, RAB3GAP2, AP4S1, AP4B1, AP4E1, AP4M1, STAMBP, KIF11, CTDP1, PGK1, MT-CO2, MT-ND5, MT-CO1, MT-CO3, DPP6, THRB, EP300, RNASET2, EFTUD2, ASXL1, GNPAT, GNAS, WNT1, FANCD2, SOX5, SATB2, KATNAL2, AUTS2, MASP1, ERCC4, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, PIK3CA, RAB18, IER3IP1, RBBP8, MYCN, VLDLR, COX10, MT-TV, COG4, ALG11, COG6, COG5, TMEM165, MAT1A, EARS2, DDC, SLC6A3, EIF2AK3, DHCR24, MYO5A, RAB27A, STIM1, RARB, B3GLCT, PIK3R2, AKT3, ERCC8, LIG4, TPI1, GSS, PRKRA, EPG5, PIK3R1, PACS1, PGM3, TCTN3, MICU1, UBR1, OCLN, KCNJ6, AGPAT2, IFT172, PRMT7, AFF4, SRCAP, KIAA0556, CEP104, PDE6D, CSPP1, KPTN, RNF125, TBC1D7, HEPACAM, TRMT10A, ZBTB20, ZNF423, CEP83, TBC1D20, RTTN, ESCO2, DNMT3B, FRAS1, CDK5, KATNB1, TUBG1, KIF5C, KIF2A, ASNS, SNAP29, PDE4D, PTDSS1, CCDC88C, MPDZ, LAMB1, SLC25A1, MED17, MFSD2A, CENPE, CDK6, CEP135, CEP63, ZMYND11, TTI2, TAF2, SLC6A17, SETD5, NDST1, MID2, METTL23, KIF4A, FMN2, FBXO31, CRADD, ADAT3, GATAD2B, CTCF, ANK3, TECR, MED23, LRP2, LINS1, C12orf57, SOBP, CDH15, ZNF526, ZC3H14, TRAPPC9, PRSS12, MAN1B1, GRIK2, CRBN, CC2D1A, CA8, DPH1, MEGF8, TCF12, ORC1, GMNN, PLK4, LARP7, POC1A, PYCR2, TUBGCP4, ASXL3, TUBGCP6, TBCE, PPP1R15B, SLC1A4, SERAC1, CLPB, KMT2B, BCAP31, ACY1, CACNA1G, COL18A1, LAMA1, PTRH2, SCYL1, ERCC5, COQ4, PMPCA, XPA, WDR81, POLR3A, POLR3B, PET100, APOPT1, SNX14, WDR73, CHAMP1, PIGG, ZSWIM6, BUB1B, AP1S1, MPLKIP, GTF2H5, CA5A, PEPD, FAM126A, DHFR, COL4A2, PEX11B, POGZ, DDX3X, KAT6A, IGF1, COLEC11, HDAC4, SLC12A5, PIGT, RBM28, GPHN, SSR4, UBE3B, AIMP1, STT3B, STT3A, TMCO1, ERCC1, FTO, CLP1, HMGB3, MAB21L2, SMOC1, RNF113A, MFF, FAR1, SC5D, UNC80, UPB1, NECTIN1, CAD, KCNH1, RLIM, KLHL15, USP27X, DARS, DDX59, KDM1A, JAM3, ISCA2, ELP2, TRIO, MED13L, MYT1L, DCPS, TRIP12, TCF20, GABBR2, PPP2R1A, FASN, SNX27, ITPA, RMND1, SFXN4, RSPRY1, GTF2E2, APC2, HNRNPK, HIST1H4B, GON4L, SLC39A6, SCAPER, ADRA2B, KRBOX4, CCNA2, KDM6B, MEIS2, PGAP3, PECR, CKAP2L, CASP2, FRMD4A, GEMIN4, INPP4A, ZCCHC8, HIKESHI, SLC25A16, RABL6, TMEM135, GPT2, ASCC3, HIST3H3, CNKSR1, WAC, KDM5A, ACBD6, CCDC88A, AHDC1, TM4SF20, HERC2, SETD1A, KCNK9, ZBTB40, RALGDS, IMPA1, TANGO2, GMPPA, PGAP2, TRMT1, SLC31A1, CAPN10, PARP1, UBR7, EEF1B2, DIP2B, WDR45B, CCDC115, ADK, COL4A3BP, RGS7, FRY, EXOSC2, PPP2R5D, PRMT9
Specificity
1 %
Genes
100 %
|
Muscular dystrophy, dystroglycanopathy.
By Institute of Human Genetics Cologne University in Germany.
FKTN, POMGNT1, FKRP, POMT2, POMT1, ISPD, POMGNT2, RXYLT1, LARGE1, B3GALNT2, POMK, GMPPB, B3GNT2
Specificity
8 %
Genes
100 %
|
Alpha-Dystroglycanopathy.
By MGZ Medical Genetics Center in Germany.
FKTN, POMGNT1, FKRP, POMT2, POMT1, ISPD, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, POMK, GMPPB
Specificity
8 %
Genes
100 %
|
Muscular Dystrophy: Limb Girdle - autosomal recessive.
By MGZ Medical Genetics Center in Germany.
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, FKRP, DYSF, TTN, ANO5, PLEC, POMT2, POMT1, TCAP, SGCD
Specificity
7 %
Genes
100 %
|
Dystroglycanopathies.
By MGZ Medical Genetics Center in Germany.
FKTN, POMGNT1, FKRP, POMT2, POMT1, LARGE1
Specificity
17 %
Genes
100 %
|
Heart Diseases - panels.
By MGZ Medical Genetics Center in Germany.
TTR, AARS2, ACAD9, ACADM, ACADS, AGL, ACADVL, GAA, ELN, CPT2, GNE, JAG1, DSP, CRYAB, RAF1, VCP, FBN1, MTO1, AGK, TMEM70 , (...)
View the complete list with 137 more genes
TTR, AARS2, ACAD9, ACADM, ACADS, AGL, ACADVL, GAA, ELN, CPT2, GNE, JAG1, DSP, CRYAB, RAF1, VCP, FBN1, MTO1, AGK, TMEM70, SLC25A3, PNPLA2, GFM1, SCO2, TAZ, COX15, CPT1A, GBE1, ETFB, ETFA, ETFDH, SLC22A5, SLC25A20, SDHA, BRAF, CHD7, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, FKTN, SGCA, SGCB, POMGNT1, SGCG, LMNA, FKRP, CAV3, NF1, TTN, DES, MYH7, FLNC, MYOT, LDB3, BAG3, FHL1, SELENON, MYBPC3, ACTA1, SYNE1, TMEM43, SYNE2, EMD, PLEC, POMT2, POMT1, TCAP, SGCD, KCNJ2, CHKB, LARGE1, KCNH2, SCN5A, KMT2D, ZEB2, TBX1, KCNE1, KCNQ1, CACNA1C, LZTR1, LAMP2, SPRED1, RASA2, RRAS, A2ML1, NODAL, FOXH1, NOTCH1, TGFBR1, TGFBR2, ABCC9, PKP2, ANK2, RYR2, CALM1, CALM2, TRDN, KCNE2, KCNJ5, SNTA1, CASQ2, AKAP9, SCN4B, KDM6A, DNAH11, BMPR2, ACTC1, TGFB3, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, TPM1, TNNT2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, VCL, TBX5, GJA1, GDF1, GATA4, CITED2, CRELD1, GATA6, CFC1, NOTCH2, ZFPM2, ADAMTSL4, GATA5, TBX20, SMAD6, TAB2, MED13L, NR2F2, NKX2-6, TLL1
Specificity
1 %
Genes
100 %
|
Muscle Disease with CNS Involvement.
By MGZ Medical Genetics Center in Germany.
FKTN, POMGNT1, FKRP, TTN, MYH7, CCDC78, SYNE1, TRAPPC11, POMT2, POMT1, ISPD, SIL1, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, RXYLT1, LARGE1, B3GALNT2 , (...)
View the complete list with 6 more genes
FKTN, POMGNT1, FKRP, TTN, MYH7, CCDC78, SYNE1, TRAPPC11, POMT2, POMT1, ISPD, SIL1, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, RXYLT1, LARGE1, B3GALNT2, SNAP25, LAMP2, POMK, STAC3, GMPPB, MICU1
Specificity
4 %
Genes
100 %
|
Newborn: “Floppy Infant “.
By MGZ Medical Genetics Center in Germany.
GAA, GARS, MFN2, ALG2, CHAT, GBE1, DPAGT1, CHRNE, DOK7, FKTN, NEB, POMGNT1, RAPSN, GDAP1, TRPV4, MPZ, NEFL, EGR2, DNM2, LMNA , (...)
View the complete list with 53 more genes
GAA, GARS, MFN2, ALG2, CHAT, GBE1, DPAGT1, CHRNE, DOK7, FKTN, NEB, POMGNT1, RAPSN, GDAP1, TRPV4, MPZ, NEFL, EGR2, DNM2, LMNA, FKRP, UBA1, SCN4A, TTN, SELENON, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, BICD2, IGHMBP2, SYNE1, PLEC, POMT2, POMT1, TCAP, ISPD, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, CUL4B, LAMP2, LAS1L, FKBP14, POMK, GMPPB, ALG14, SLC52A3
Specificity
2 %
Genes
100 %
|
Muscle Weakness (Myopathy, Muscular Dystrophy).
By MGZ Medical Genetics Center in Germany.
TTR, ACAD9, ACADM, ACADS, AGL, ACADVL, TWNK, GAA, TUBB3, AMACR, CPT2, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, MFN2, CRYAB, HADHA , (...)
View the complete list with 159 more genes
TTR, ACAD9, ACADM, ACADS, AGL, ACADVL, TWNK, GAA, TUBB3, AMACR, CPT2, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, MFN2, CRYAB, HADHA, VCP, MTO1, AGK, TMEM70, CAVIN1, PGM1, SLC25A3, PNPLA2, POLG2, TK2, GFM1, HADHB, ALG2, SCO2, PUS1, TAZ, ABHD5, LPIN1, COX15, ISCU, CPT1A, CHAT, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, SLC22A5, SLC25A20, SEPT9, KIF21A, SDHA, DPAGT1, DMD, PHOX2B, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, GDAP1, TRPV4, MPZ, NEFL, EGR2, DNM2, LMNA, CLCN1, FKRP, CAV3, UBA1, DYSF, SCN4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, HSPG2, BAG3, FHL1, SELENON, CACNA1S, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, BICD2, DYNC1H1, IGHMBP2, SYNE1, TMEM43, SYNE2, EMD, TRAPPC11, DNAJB6, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SMCHD1, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, GOSR2, HNRNPU, SNAP25, CUL4B, MYH14, LAMP2, LAS1L, FKBP14, TNXB, HINT1, AARS, AMPD1, COL12A1, LIMS2, MYF6, TNPO3, MTMR14, TOR1AIP1, POMK, STAC3, GMPPB, PIEZO2, MYBPC1, FDX2, PGK1, HADH, STIM1, ORAI1, MICU1, PREPL, LRP4, ALG14, SLC52A3, GLRB, GLRA1, SLC6A5
Specificity
1 %
Genes
100 %
|
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR).
By MGZ Medical Genetics Center in Germany.
ACADM, AGL, ACADVL, GAA, CPT2, GNE, TRIM32, POLG, RRM2B, CRYAB, HADHA, VCP, PNPLA2, TK2, HADHB, PUS1, ABHD5, LPIN1, ISCU, PYGM , (...)
View the complete list with 70 more genes
ACADM, AGL, ACADVL, GAA, CPT2, GNE, TRIM32, POLG, RRM2B, CRYAB, HADHA, VCP, PNPLA2, TK2, HADHB, PUS1, ABHD5, LPIN1, ISCU, PYGM, GBE1, ETFB, ETFA, ETFDH, SLC22A5, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, TRPV4, DNM2, LMNA, CLCN1, FKRP, CAV3, DYSF, SCN4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, BAG3, FHL1, SELENON, RYR1, ACTA1, MYH2, MTM1, BICD2, DYNC1H1, TMEM43, EMD, TRAPPC11, DNAJB6, PLEC, POMT2, POMT1, TCAP, SGCD, COLQ, GFPT1, CHRNA1, CHRND, CHRNB1, CHKB, COL6A2, COL6A3, LARGE1, COL6A1, HNRNPU, LAMP2, HINT1, LIMS2, TNPO3, TOR1AIP1, GMPPB, HADH, STIM1
Specificity
2 %
Genes
100 %
|
Limb-girdle muscular dystrophy, autosomal recessive type 2N.
By Centogene AG - the Rare Disease Company in Germany.
POMT1
Specificity
100 %
Genes
100 %
|
Limb-girdle muscular dystrophy, autosomal recessive type 2K.
By Centogene AG - the Rare Disease Company in Germany.
POMT1
Specificity
100 %
Genes
100 %
|
Microcephaly panel.
By Centogene AG - the Rare Disease Company in Germany.
SLC25A19, DNM1L, WDR62, POMT1, MCPH1, ASPM, CENPJ, NDE1, PAFAH1B1, STIL, TUBB2B, PNKP, CASK, CEP152, CDK5RAP2, PCNT, AP4M1, KIF11, EFTUD2, IER3IP1 , (...)
View the complete list with 7 more genes
SLC25A19, DNM1L, WDR62, POMT1, MCPH1, ASPM, CENPJ, NDE1, PAFAH1B1, STIL, TUBB2B, PNKP, CASK, CEP152, CDK5RAP2, PCNT, AP4M1, KIF11, EFTUD2, IER3IP1, AKT3, NHEJ1, CEP135, CEP63, TUBGCP6, NR2E1, MSMO1
Specificity
4 %
Genes
100 %
|
Limb-girdle muscular dystrophy panel.
By Centogene AG - the Rare Disease Company in Germany.
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, ANO5, MYOT, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP , (...)
View the complete list with 1 more genes
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, ANO5, MYOT, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD
Specificity
5 %
Genes
100 %
|
AllNeuro panel.
By Centogene AG - the Rare Disease Company in Germany.
F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)
View the complete list with 1185 more genes
F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, PC, UQCRQ, ARG1, UQCRB, TYROBP, ATP5F1E, ATP7A, ATP7B, ATPAF2, BCKDHA, BCKDHB, BCS1L, BEST1, TWNK, C12orf65, GAA, ADSL, MMACHC, FBLN5, PRKCG, APP, AMN, PAX6, TGFB1, PSEN1, TUBB3, MTR, RET, OPTN, GPR143, INPP5E, MTRR, AMACR, HSD17B4, CPT2, OPA1, KRT5, DTNBP1, WFS1, PSAP, GLB1, CC2D2A, ATP6V0A2, SRD5A3, GNE, HSD17B10, OCRL, ELOVL4, NDP, HPRT1, NHS, TMEM67, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, TTC8, TRIM32, SHH, PRPH2, AASS, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, GARS, AFG3L2, FOXRED1, RRM2B, NDUFAF2, KIF1B, MFN2, CRYAB, PANK2, HADHA, RAF1, OPA3, FH, VCP, SMPD1, MECP2, CYP11B2, MTO1, COQ9, PDSS2, PDSS1, ACO2, NDUFA12, DDOST, NDUFB3, NDUFA9, AGK, ALDH18A1, HPS1, DNM1L, DGUOK, BOLA3, ACSF3, BLOC1S3, HPS6, HPS5, HPS4, HPS3, TMEM70, NFU1, PCK2, NDUFAF1, CCDC28B, TTC19, MTPAP, NDUFA10, NUBPL, SCP2, KARS, SPTLC2, ABAT, GFER, TLR3, TMEM126A, SLC25A12, DPM3, PGM1, LDHA, ENO3, GAMT, GATM, SPR, STXBP1, SUCLA2, COQ8A, RFT1, TUBA1A, GYS1, RARS2, COG1, COG8, DARS2, TUSC3, SLC25A3, PNPLA2, TSFM, HTRA2, REEP1, DNAJC19, POLG2, CTSD, ACADSB, TK2, SLC25A22, MPDU1, GFM1, FLVCR1, HADHB, DPM1, COG7, ALG9, ATIC, ALG1, AP3B1, ALG8, ALG2, GRN, COQ2, SPG7, ALG12, B4GALT1, PARK7, HMGCS2, PINK1, GCSH, GLDC, AMT, CISD2, SCO2, SLC35A1, GAD1, ALG6, TYMP, MPI, ETHE1, ALG3, PUS1, OTC, FRMD7, HCCS, PDHA1, GK, TIMM8A, TAZ, ABCB7, AIFM1, MAOA, PHKA1, ACSL4, SLC9A6, BCOR, ABCD1, MMADHC, LMBRD1, ABHD5, HEXA, GM2A, ALDH5A1, ALDH3A2, HEXB, LPIN1, PHYH, SLC35C1, ALDH7A1, ACOX1, PGAM2, PTS, QDPR, PAH, AGXT, MPV17, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, CHAT, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, DBT, SUCLG1, GALC, ALDH4A1, HK1, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, FXN, LRPPRC, FASTKD2, COX6B1, SLC3A1, ASS1, CYP27A1, SIX6, SLC22A5, SLC25A20, MGAT2, PMM2, PRKN, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, APTX, ASL, TPP1, CLN3, ALMS1, HESX1, KIF21A, WWOX, SNCB, PNKD, SOD1, NEFH, GSN, TACO1, TMLHE, SLC6A8, MTFMT, SDHA, ABCD4, AGA, AHCY, ARSB, DOLK, DPAGT1, MOGS, HPD, TSHR, FGFR3, AR, ARSA, ASPA, ARX, ELP1, GBA, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, EIF2B1, FOXG1, GJC2, HRAS, IDS, IDUA, IKBKG, KRAS, MEF2C, NPC1, NPC2, NRAS, PCDH19, PLP1, PORCN, PTPN11, RAI1, SHOC2, SLC2A1, SMN1, SOS1, WDR62, FGFR2, HDAC8, TSC2, RAD21, CBL, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, ATM, MRE11, NBN, PTCH1, PHOX2B, MET, GPC3, RAD50, CHRNE, CLN6, CLN8, DOK7, FKTN, NEB, PEX2, PROP1, PPT1, PEX7, SGCA, SGCB, SACS, TH, MLC1, PEX1, POMGNT1, SGCG, SLC12A6, SLC17A5, SUMF1, TTPA, ABCC8, CAPN3, CLN5, EIF2B5, PLA2G6, RAPSN, TMEM216, NDRG1, SBF2, PRX, FIG4, FGD4, SH3TC2, MTMR2, GDAP1, TRPV4, MPZ, PMP22, NEFL, HSPB8, LITAF, RAB7A, EGR2, HSPB1, YARS, DNM2, LMNA, GJB1, NTRK1, WNK1, SPTLC1, ATL1, ZFYVE26, EIF2B3, SMN2, EIF2B2, EIF2B4, SPG11, CSTB, SCN1A, PSEN2, MAPT, APOE, C9orf72, AHI1, NOTCH3, CLCN1, FKRP, CAV3, UBA1, CNBP, DYSF, SCN4A, ATXN3, CACNA1A, TOR1A, THAP1, GCH1, NF1, LRRK2, SGCE, SNCA, FGFR1, KCNJ11, CASR, INS, INF2, LAMB2, BSND, CLCNKB, KCNJ1, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, MATR3, SPAST, KIF5A, ATP2A1, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, BAG3, FHL1, SELENON, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2, CACNA1S, RYR1, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2, TPM3, ACTA1, CCDC78, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, BICD2, DYNC1H1, HSPB3, VRK1, IGHMBP2, SYNE1, SYNE2, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SMCHD1, KCNA1, CACNB4, SLC1A3, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, SYT14, ANO10, TDP1, SIL1, GRM1, VAMP1, EEF2, KCND3, KCNC3, ITPR1, PDYN, FGF14, TGM6, TTBK2, SPTBN2, LAMA2, POMGNT2, COL6A2, COL6A3, LARGE1, COL6A1, MCPH1, ASPM, ATP1A2, ATP1A3, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, SYNJ1, SLC35A2, SLC6A1, FOLR1, GABRD, GRIN2B, KCNT1, KCNQ2, KCNQ3, PNPO, SCN3A, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, KCNMA1, SCARB2, SCN5A, ALG13, ASAH1, TBC1D24, DEPDC5, PRRT2, BRAT1, PIGO, BCKDK, COL4A1, ARFGEF2, CENPJ, DCX, EMX2, QARS, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B, KRIT1, DNAJC5, MFSD8, ATP13A2, CCM2, PDCD10, KMT2D, RBFOX1, MAGI2, SETD2, TBL1XR1, SLC13A5, NEXMIF, SZT2, WDR45, ST3GAL3, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGN, PIGV, ANKRD11, PLCB1, SPTAN1, PNKP, SAMHD1, KCNJ10, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, SERPINI1, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, SETBP1, ZEB2, TREX1, VPS13B, GFAP, VPS13A, TBX1, LBR, ATP2A2, HTRA1, SHANK3, SHANK2, ACTB, ACTG1, CACNA1D, EDN3, ERCC2, NLRP3, DNMT1, EDNRB, SOX10, PRPS1, CHSY1, GJB3, MYH14, MYH9, PEX6, TFAP2A, DIAPH3, ADNP, MID1, MED12, LAMC3, KIRREL3, FOXP2, FOXP1, EHMT1, CACNA1C, AP1S2, CHD8, HOXA1, TMEM231, ARID1B, CTNNB1, NLGN4X, NLGN3, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, KAT6B, CLCNKA, MVK, FOXP3, NEU1, CHRNG, PHF8, IGBP1, HUWE1, AFF2, MBTPS2, LAMP2, MAGT1, ZNF711, FANCB, DKC1, DLG3, EBP, TSPAN7, UBE2A, UPF3B, USP9X, ZDHHC15, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RPL10, RAB40AL, ZDHHC9, BRWD3, CLIC2, TAF1, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, KLF8, ZCCHC12, MSX2, TWIST1, NSUN2, CLCN2, NEDD4L, MTOR, VANGL1, EXOSC3, TSEN34, TSEN2, TGIF1, ZIC2, CEP152, CDON, GLI2, CDK5RAP2, FLVCR2, PCNT, ATR, NAGA, HYAL1, TGFB2, TGFBR1, TGFBR2, SKI, ACTA2, ABCC6, NFIX, RNF135, GLI3, TP63, MAGEL2, KDM6A, MARS, COX6A1, PLEKHG5, TRIM2, PDK3, SBF1, GNB4, DHTKD1, DNAJB2, HINT1, TFG, LRSAM1, AARS, MED25, GAN, IFT140, BLOC1S6, SLC4A4, ACVRL1, DOCK8, CSF2RB, NKX2-1, PRKAG2, AMPD1, COL12A1, LIMS2, MYF6, TNPO3, MTMR14, HNRNPDL, SLC5A7, POMK, GMPPB, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, PIEZO2, CHMP1A, ERCC6, KMT2A, SMARCA4, SMARCB1, ARID1A, SMARCA2, ERLIN1, REEP2, MAG, PGAP1, ENTPD1, NT5C2, KIF1C, C19orf12, UCHL1, B4GALNT1, TUBB4A, GBA2, CYP2U1, DDHD2, TECPR2, DDHD1, ADAR, VPS37A, ERLIN2, RAB3GAP2, AP4S1, AP4B1, AP4E1, AP4M1, ZFYVE27, KIF11, CTDP1, PGK1, FGF10, SLC9A9, LHX4, ACE, CD320, ALX4, EP300, RNASET2, EFTUD2, ASXL1, CCT5, GNPAT, CTC1, NOD2, FTL, CP, COASY, DCAF17, BDNF, MASP1, VEGFA, B9D1, ZIC3, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, EOMES, PIK3CA, RAB18, IER3IP1, RBBP8, MYCN, VLDLR, MARS2, COX10, SCO1, COG4, ALG11, COG6, COG5, TMEM165, IL11RA, CSF1R, TREM2, PRNP, SORL1, TPK1, SLC20A2, FBXO7, EARS2, DRD2, SLC6A3, PCBD1, APOA1, B9D2, ABCA1, PTF1A, VPS35, GP1BA, A2M, FGA, MYO5A, VIPAS39, CD36, VAX1, FREM1, ALX1, B3GLCT, PIK3R2, AKT3, AKT1, SLC4A1, RBM8A, NHEJ1, XK, LPIN2, FADD, DST, COL7A1, RANBP2, PRKRA, NOTCH2, TCTN3, UNC93B1, TRAF3, TICAM1, NLRP12, OCLN, NTRK2, PIGL, PDE6D, CSPP1, WNT5A, HEPACAM, RIN2, ZNF423, DYNC2H1, GRIP1, ESCO2, DHH, ROR2, WNT7A, ICK, ARSE, MAMLD1, PREPL, ASNS, SNAP29, CCDC88C, MPDZ, LAMB1, MED17, ZNF335, CEP135, KNL1, CEP63, TTI2, TAF2, NDST1, CRADD, EPB41L1, CACNG2, ANK3, TECR, MED23, LRP2, LINS1, C12orf57, SOBP, CDH15, TRAPPC9, PRSS12, MAN1B1, GRIK2, CRBN, CC2D1A, CA8, CD96, ALX3, ORC1, RNU4ATAC, AMPD2, SEPSECS, ASXL3, TUBGCP6, TSHB, TG, TBCE, DNAJC6, ANO3, HPCA, BCAP31, GNAL, ADCY5, SLC30A10, ACY1, AAAS, ATP8A2, ATP2B3, CAMTA1, ATCAY, COL18A1, GRID2, NOL3, PIK3R5, ELOVL5, ERCC5, NAT8L, STUB1, ITM2B, LMNB1, MAPK10, RUBCN, ZNF592, COA5, WDR81, POLR3A, POLR3B, RNF170, CHCHD10, CWF19L1, SCN10A, AP1S1, DSC3, KCNE5, WNT10A, EIF4G1, IL1RN, ARHGAP31, CERS1, ASCL1, GDNF, RETREG1, NGF, ARHGEF10, HOXD10, FAM126A, COL4A2, GYG1, PEX11B, POGZ, TRPS1, IFRD1, NOP56, UMPS, GLRB, TFAP2B, CST3, GLRA1, IGF1, SLC6A5, DRD3, TRPM6, NOS3, HDAC4, CIZ1, LYZ, PDE8B, HPSE2, PLEKHG4, EXOC8, AIMP1, IRX5, WNT3, TUBA4A, MSX1, TMCO1, GIGYF2, SNCAIP, ERCC1, ZBTB16, FTO, CHRM3, EXOSC8, TRPM7, FBXO38, YWHAE, CACNA1B, ALAD, KANK1, UPB1, NECTIN1, PRRX1, NOG, ATP2B4, ZFR, WDR48, USP8, ARSI, STRADA, RBFOX3, NDUFA4, ERBB4, WAC, HERC2, KCNK9, ADK, FLRT1, NXF5, ELK1, NRG1, VDAC1, DNAH9, FZD9, CD59, JRK, ACKR1, CD207, CR1, CNTNAP4, CDK11A, RABGGTA, TNFSF4, FRG1, TAS2R38, CISH, SNX3, ICAM1, YAP1, ADAM10, ZBTB18, EIF4E, SNIP1, AANAT, KCNK18, XBP1, NOS2, TIRAP, TLR5, PRKCH, ALOX5AP, TNF, FCGR2B
Specificity
1 %
Genes
100 %
|
Walker-Warburg syndrome panel.
By Centogene AG - the Rare Disease Company in Germany.
FKTN, FKRP, POMT2, POMT1, ISPD
Specificity
20 %
Genes
100 %
|
CentoICU platinum plus.
By Centogene AG - the Rare Disease Company in Germany.
BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)
View the complete list with 494 more genes
BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, ATP8B1, AUH, BCKDHA, BCKDHB, BCS1L, C12orf65, GAA, ADSL, HNF1A, HBB, MMACHC, EYA1, COL1A1, COL1A2, STAR, WT1, RB1, PSEN1, HNF1B, MTR, RET, SLC37A4, EYA4, ABCA12, SLC16A1, MTRR, HSD17B4, CPS1, CPT2, KRT5, TRMU, WFS1, COMT, PSAP, GNPTAB, GLB1, PRODH, GNE, HSD17B10, JAG1, HPRT1, MKKS, ADGRV1, CEP290, AASS, DLD, POLG, NDUFS4, SLC25A19, GCK, CYP11B1, FOXRED1, NDUFAF2, ALAS2, SLC25A13, HADHA, RAF1, OPA3, FH, SMPD1, MECP2, CYP11B2, FBN1, COQ9, PDSS2, PDSS1, LIAS, ACSF3, PDHB, ALDH6A1, NFU1, FAH, NDUFAF1, HMGCL, HSD3B2, TAT, ABAT, GAMT, GATM, SPR, STXBP1, SUCLA2, ACAD8, P3H1, CRTAP, DNAJC19, CTSD, ACADSB, HADHB, PDP1, UNG, UCP2, COQ2, PCCA, HMGCS2, GLDC, AMT, ETHE1, D2HGDH, OTC, PDHA1, GK, TAZ, AIFM1, SLC9A6, MMADHC, LMBRD1, TCN2, HEXA, SUOX, ALDH5A1, ALDH3A2, HEXB, ALDH7A1, ACOX1, PTS, QDPR, PAH, AGXT, OAT, CTSA, NDUFA2, COX15, NDUFS7, NDUFAF6, CPT1A, GUSB, GALNS, MOCS2, MOCS1, SDHAF1, NDUFA11, NDUFV2, NDUFS2, NDUFAF5, MMAB, MMAA, MUT, HIBCH, DBT, MAN2B1, MLYCD, SUCLG1, DLAT, GALC, OXCT1, IVD, NAGS, CBS, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, GLYCTK, LRPPRC, SLC3A1, ASS1, SLC22A5, SLC25A20, PMM2, ASL, SOX2, ALMS1, OGDH, CYP17A1, ANKRD26, HESX1, PAX2, PDHX, ABCD4, ADA, AGA, AHCY, ARSB, SUGCT, DOLK, GNMT, HPD, IL2RG, PNP, TSHR, ARSA, ASPA, CFTR, FANCC, BRAF, CDKL5, CHD7, DHCR7, FOXG1, GJB2, GLA, HRAS, KRAS, LIPA, MAP2K1, MEF2C, NPC1, NPC2, NRAS, PLOD1, POMC, PTPN11, RMRP, RPS19, SHOC2, SLC2A1, SOS1, WDR62, FGFR2, MAP2K2, TSC2, TSC1, NIPBL, NSD1, PHOX2B, GPC3, SBDS, LAMB3, FKTN, G6PD, CTNS, PROP1, DCLRE1C, SERPINA1, SLC7A7, SLC26A2, UGT1A1, LAMA3, SUMF1, WAS, ABCC8, BTK, LAMC2, PHGDH, PKHD1, TGM1, PMP22, EGR2, WNK1, CSTB, SCN1A, GCH1, NR0B1, KCNJ11, CASR, INS, PDX1, HNF4A, POU1F1, BSND, PKD2, PLEC, POMT2, POMT1, LAMA2, MCPH1, ASPM, NHLRC1, KCNH2, ST3GAL5, SCN2A, KCNQ2, KCNQ3, PNPO, EPM2A, BCKDK, CENPJ, RAB3GAP1, STIL, KMT2D, SPTAN1, KCNJ10, TCF4, ATRX, CASK, ZEB2, SALL1, ATP6V1B1, CACNA1D, EDN3, COL11A1, PNPT1, PAX3, KCNQ4, SIX5, PRPS1, KCNE1, KCNQ1, SIX1, GATA3, TJP2, FUCA1, CACNA1C, GATA1, KLF1, MVK, PKLR, UROS, NEU1, CDAN1, MAGT1, FANCB, RPS6KA3, NAA10, COMP, SPRED1, CEP152, CDK5RAP2, PCNT, ATR, CACNB2, GPSM2, MITF, CALM1, AKAP9, KDM6A, SFTPD, DOCK8, ABCA3, SFTPC, SFTPB, PRKAG2, DNA2, RAB3GAP2, F11, SPINK1, TBX19, LHX4, LHX3, CD320, SALL4, TBX5, JAK3, GNAS, F9, F8, ADAMTS13, FANCA, FANCD2, BDNF, AKR1D1, EVC, EVC2, RAB18, IER3IP1, RBBP8, MYCN, SLC46A1, MAT1A, DDC, PCBD1, PSPH, HADH, APOC2, AKT2, GLIS3, PTF1A, EIF2AK3, GP1BA, FGA, FGB, FGG, P2RX1, P2RY12, STIM1, GFI1B, ITGB3, ITGA2B, MASTL, TNFRSF13B, AICDA, CD40, CD40LG, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, GNA11, INSR, SLC4A1, ELANE, RBM8A, LAMTOR2, RAC2, NHEJ1, LIG4, PTPRC, SPTB, SPTA1, ANK1, EPB42, GSS, C15orf41, PIK3CD, LRBA, PROS1, ITGB4, ITGA6, COL17A1, COL7A1, IL12RB1, NFKB2, ABCC2, JAGN1, F7, CD19, CR2, CD81, ICOS, PRKDC, TNFRSF13C, NOTCH2, CARD11, IL2RA, TSPYL1, FRAS1, ASNS, ACTN1, GP9, SLC25A1, PAX8, TSHB, THRA, DUOXA2, DUOX2, SLC5A5, TPO, TG, SERAC1, COA5, PET100, F10, SERPING1, ALOX12B, NIPAL4, CERS3, STS, ALOXE3, PNPLA1, CYP4F22, LIPN, PSAT1, SLCO1B1, SLCO1B3, LRRC8A, BLNK, CD79A, IGLL1, CD79B, F13A1, PEPD, SERPINC1, SLC52A1, TRHR, UMPS, HGD, IGF1, PCK1, IL21R, MALT1, IGF1R, GPHN, UQCRC2, MCM4, CD3G, CORO1A, UPB1, MPC1, UQCC2, ADK, CD247, IRF8, CTPS1, IL2, OPRM1, SOX6, CABS1, LCK, IKBKB, PPM1K, OPLAH
Specificity
1 %
Genes
100 %
|
CentoICU platinum.
By Centogene AG - the Rare Disease Company in Germany.
BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)
View the complete list with 494 more genes
BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, ATP8B1, AUH, BCKDHA, BCKDHB, BCS1L, C12orf65, GAA, ADSL, HNF1A, HBB, MMACHC, EYA1, COL1A1, COL1A2, STAR, WT1, RB1, PSEN1, HNF1B, MTR, RET, SLC37A4, EYA4, ABCA12, SLC16A1, MTRR, HSD17B4, CPS1, CPT2, KRT5, TRMU, WFS1, COMT, PSAP, GNPTAB, GLB1, PRODH, GNE, HSD17B10, JAG1, HPRT1, MKKS, ADGRV1, CEP290, AASS, DLD, POLG, NDUFS4, SLC25A19, GCK, CYP11B1, FOXRED1, NDUFAF2, ALAS2, SLC25A13, HADHA, RAF1, OPA3, FH, SMPD1, MECP2, CYP11B2, FBN1, COQ9, PDSS2, PDSS1, LIAS, ACSF3, PDHB, ALDH6A1, NFU1, FAH, NDUFAF1, HMGCL, HSD3B2, TAT, ABAT, GAMT, GATM, SPR, STXBP1, SUCLA2, ACAD8, P3H1, CRTAP, DNAJC19, CTSD, ACADSB, HADHB, PDP1, UNG, UCP2, COQ2, PCCA, HMGCS2, GLDC, AMT, ETHE1, D2HGDH, OTC, PDHA1, GK, TAZ, AIFM1, SLC9A6, MMADHC, LMBRD1, TCN2, HEXA, SUOX, ALDH5A1, ALDH3A2, HEXB, ALDH7A1, ACOX1, PTS, QDPR, PAH, AGXT, OAT, CTSA, NDUFA2, COX15, NDUFS7, NDUFAF6, CPT1A, GUSB, GALNS, MOCS2, MOCS1, SDHAF1, NDUFA11, NDUFV2, NDUFS2, NDUFAF5, MMAB, MMAA, MUT, HIBCH, DBT, MAN2B1, MLYCD, SUCLG1, DLAT, GALC, OXCT1, IVD, NAGS, CBS, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, GLYCTK, LRPPRC, SLC3A1, ASS1, SLC22A5, SLC25A20, PMM2, ASL, SOX2, ALMS1, OGDH, CYP17A1, ANKRD26, HESX1, PAX2, PDHX, ABCD4, ADA, AGA, AHCY, ARSB, SUGCT, DOLK, GNMT, HPD, IL2RG, PNP, TSHR, ARSA, ASPA, CFTR, FANCC, BRAF, CDKL5, CHD7, DHCR7, FOXG1, GJB2, GLA, HRAS, KRAS, LIPA, MAP2K1, MEF2C, NPC1, NPC2, NRAS, PLOD1, POMC, PTPN11, RMRP, RPS19, SHOC2, SLC2A1, SOS1, WDR62, FGFR2, MAP2K2, TSC2, TSC1, NIPBL, NSD1, PHOX2B, GPC3, SBDS, LAMB3, FKTN, G6PD, CTNS, PROP1, DCLRE1C, SERPINA1, SLC7A7, SLC26A2, UGT1A1, LAMA3, SUMF1, WAS, ABCC8, BTK, LAMC2, PHGDH, PKHD1, TGM1, PMP22, EGR2, WNK1, CSTB, SCN1A, GCH1, NR0B1, KCNJ11, CASR, INS, PDX1, HNF4A, POU1F1, BSND, PKD2, PLEC, POMT2, POMT1, LAMA2, MCPH1, ASPM, NHLRC1, KCNH2, ST3GAL5, SCN2A, KCNQ2, KCNQ3, PNPO, EPM2A, BCKDK, CENPJ, RAB3GAP1, STIL, KMT2D, SPTAN1, KCNJ10, TCF4, ATRX, CASK, ZEB2, SALL1, ATP6V1B1, CACNA1D, EDN3, COL11A1, PNPT1, PAX3, KCNQ4, SIX5, PRPS1, KCNE1, KCNQ1, SIX1, GATA3, TJP2, FUCA1, CACNA1C, GATA1, KLF1, MVK, PKLR, UROS, NEU1, CDAN1, MAGT1, FANCB, RPS6KA3, NAA10, COMP, SPRED1, CEP152, CDK5RAP2, PCNT, ATR, CACNB2, GPSM2, MITF, CALM1, AKAP9, KDM6A, SFTPD, DOCK8, ABCA3, SFTPC, SFTPB, PRKAG2, DNA2, RAB3GAP2, F11, SPINK1, TBX19, LHX4, LHX3, CD320, SALL4, TBX5, JAK3, GNAS, F9, F8, ADAMTS13, FANCA, FANCD2, BDNF, AKR1D1, EVC, EVC2, RAB18, IER3IP1, RBBP8, MYCN, SLC46A1, MAT1A, DDC, PCBD1, PSPH, HADH, APOC2, AKT2, GLIS3, PTF1A, EIF2AK3, GP1BA, FGA, FGB, FGG, P2RX1, P2RY12, STIM1, GFI1B, ITGB3, ITGA2B, MASTL, TNFRSF13B, AICDA, CD40, CD40LG, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, GNA11, INSR, SLC4A1, ELANE, RBM8A, LAMTOR2, RAC2, NHEJ1, LIG4, PTPRC, SPTB, SPTA1, ANK1, EPB42, GSS, C15orf41, PIK3CD, LRBA, PROS1, ITGB4, ITGA6, COL17A1, COL7A1, IL12RB1, NFKB2, ABCC2, JAGN1, F7, CD19, CR2, CD81, ICOS, PRKDC, TNFRSF13C, NOTCH2, CARD11, IL2RA, TSPYL1, FRAS1, ASNS, ACTN1, GP9, SLC25A1, PAX8, TSHB, THRA, DUOXA2, DUOX2, SLC5A5, TPO, TG, SERAC1, COA5, PET100, F10, SERPING1, ALOX12B, NIPAL4, CERS3, STS, ALOXE3, PNPLA1, CYP4F22, LIPN, PSAT1, SLCO1B1, SLCO1B3, LRRC8A, BLNK, CD79A, IGLL1, CD79B, F13A1, PEPD, SERPINC1, SLC52A1, TRHR, UMPS, HGD, IGF1, PCK1, IL21R, MALT1, IGF1R, GPHN, UQCRC2, MCM4, CD3G, CORO1A, UPB1, MPC1, UQCC2, ADK, CD247, IRF8, CTPS1, IL2, OPRM1, SOX6, CABS1, LCK, IKBKB, PPM1K, OPLAH
Specificity
1 %
Genes
100 %
|
Neuronal Migration Disorders Panel.
By CeGaT GmbH in Germany.
TUBB3, FH, TUBA1A, ARX, MEF2C, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, COL4A1 , (...)
View the complete list with 30 more genes
TUBB3, FH, TUBA1A, ARX, MEF2C, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, COL4A1, ARFGEF2, DCX, EMX2, RAB3GAP1, RELN, TUBA8, FLNA, PAFAH1B1, ADGRG1, TUBB2B, ACTB, ACTG1, MED12, LAMC3, FAT4, POMK, GMPPB, RAB3GAP2, EOMES, PIK3CA, RAB18, IER3IP1, VLDLR, PIK3R2, RTTN, TUBG1, KIF5C, KIF2A, SNAP29, DCHS1
Specificity
2 %
Genes
100 %
|
Neuronal Migration Disorders Panel.
By CeGaT GmbH in Germany.
TUBB3, FH, TUBA1A, ARX, MEF2C, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, COL4A1 , (...)
View the complete list with 30 more genes
TUBB3, FH, TUBA1A, ARX, MEF2C, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, COL4A1, ARFGEF2, DCX, EMX2, RAB3GAP1, RELN, TUBA8, FLNA, PAFAH1B1, ADGRG1, TUBB2B, ACTB, ACTG1, MED12, LAMC3, FAT4, POMK, GMPPB, RAB3GAP2, EOMES, PIK3CA, RAB18, IER3IP1, VLDLR, PIK3R2, RTTN, TUBG1, KIF5C, KIF2A, SNAP29, DCHS1
Specificity
2 %
Genes
100 %
|
Walker-Warburg Syndrome Panel.
By CeGaT GmbH in Germany.
FKTN, POMGNT1, FKRP, DAG1, POMT2, POMT1, ISPD, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, COL4A1, POMK, GMPPB
Specificity
7 %
Genes
100 %
|
Muscular Dystrophies Panel.
By CeGaT GmbH in Germany.
CAVIN1, DPM1, DMD, FKTN, POMGNT1, LMNA, PABPN1, FKRP, DYSF, TTN, ANO5, FHL1, SELENON, SYNE1, TMEM43, SYNE2, EMD, POMT2, POMT1, TCAP , (...)
View the complete list with 12 more genes
CAVIN1, DPM1, DMD, FKTN, POMGNT1, LMNA, PABPN1, FKRP, DYSF, TTN, ANO5, FHL1, SELENON, SYNE1, TMEM43, SYNE2, EMD, POMT2, POMT1, TCAP, ISPD, SMCHD1, LAMA2, DPM2, CHKB, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7, ALG13, GMPPB
Specificity
4 %
Genes
100 %
|
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel.
By CeGaT GmbH in Germany.
AARS2, PC, TYROBP, ATP7A, ATP7B, AUH, BCS1L, C12orf65, MMACHC, HSD17B4, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, FOXRED1, NDUFAF2, NDUFA12, NDUFA9 , (...)
View the complete list with 155 more genes
AARS2, PC, TYROBP, ATP7A, ATP7B, AUH, BCS1L, C12orf65, MMACHC, HSD17B4, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, FOXRED1, NDUFAF2, NDUFA12, NDUFA9, TMEM70, NDUFAF1, HMGCL, TTC19, NUBPL, SCP2, SLC25A12, SUCLA2, DARS2, TUFM, GFM1, SCO2, TYMP, D2HGDH, ABCD1, HEXA, ALDH3A2, PHYH, ACOX1, MPV17, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, SDHAF1, NDUFA1, NDUFS1, NDUFV1, NDUFS2, NDUFAF5, GALC, L2HGDH, GBE1, ETFB, ETFA, ETFDH, GCDH, LRPPRC, COX6B1, CYP27A1, TACO1, FARS2, MTFMT, SDHA, AGA, ARSA, ASPA, EIF2B1, GJC2, GLA, IDS, NPC1, NPC2, PLP1, PRF1, FKTN, PEX2, PEX7, MLC1, MCOLN1, PEX1, POMGNT1, SLC17A5, SUMF1, EIF2B5, PHGDH, PLA2G6, ZFYVE26, EIF2B3, EIF2B2, EIF2B4, SPG11, NOTCH3, FKRP, CYP7B1, FA2H, SPART, SPG21, POMT2, POMT1, LAMA2, LARGE1, FOLR1, KCNT1, COL4A1, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, GFAP, HTRA1, ERCC2, ERCC3, POLR1C, SOX10, PEX6, FUCA1, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, NEU1, SLC16A2, CLCN2, AARS, GAN, GMPPB, ERCC6, IFIH1, TUBB4A, DDHD2, ADAR, AP4E1, RNASET2, CTC1, COX10, CSF1R, TREM2, EARS2, ERCC8, UNC13D, STX11, STXBP2, OCLN, HEPACAM, IBA57, SLC25A1, PYCR2, BCAP31, RARS, LMNB1, POLR3A, POLR3B, PET100, APOPT1, PSAT1, FAM126A, COL4A2, PEX11B, AIMP1, DARS, ISCA2, VPS11, PLEKHG2, NADK2, TBCK
Specificity
1 %
Genes
100 %
|
Limb-Girdle Muscular Dystrophies Panel.
By CeGaT GmbH in Germany.
GAA, GNE, TRIM32, DPM3, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT , (...)
View the complete list with 14 more genes
GAA, GNE, TRIM32, DPM3, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, LAMA2, TNPO3, HNRNPDL, POMK, GMPPB
Specificity
3 %
Genes
100 %
|
Limb girdle muscular dystrophy 2K.
By MVZ Dortmund Dr. Eberhard & Partner in Germany.
POMT1
Specificity
100 %
Genes
100 %
|
Limb girdle muscular dystrophy-Panel.
By MVZ Dortmund Dr. Eberhard & Partner in Germany.
TRIM32, DMD, FKTN, SGCA, SGCB, SGCG, CAPN3, LMNA, CAV3, DYSF, DES, ANO5, MYOT, DNAJB6, POMT2, POMT1, TCAP, SGCD
Specificity
6 %
Genes
100 %
|
Microcephaly.
By Asper Biogene Asper Biogene LLC in Estonia.
SLC25A19, WDR62, POMT1, MCPH1, ASPM, CENPJ, NDE1, PAFAH1B1, STIL, TUBB2B, PNKP, CASK, CEP152, CDK5RAP2, PCNT, AP4M1, KIF11, EFTUD2, IER3IP1, NHEJ1 , (...)
View the complete list with 4 more genes
SLC25A19, WDR62, POMT1, MCPH1, ASPM, CENPJ, NDE1, PAFAH1B1, STIL, TUBB2B, PNKP, CASK, CEP152, CDK5RAP2, PCNT, AP4M1, KIF11, EFTUD2, IER3IP1, NHEJ1, CEP135, KNL1, CEP63, TUBGCP6
Specificity
5 %
Genes
100 %
|
Brain malformations.
By Asper Biogene Asper Biogene LLC in Estonia.
TUBB3, INPP5E, CC2D2A, ATP6V0A2, SRD5A3, TMEM67, NPHP1, CEP290, DLD, SLC25A19, MECP2, PDHB, TUBA1A, RARS2, PDP1, GCSH, GLDC, AMT, PDHA1, DLAT , (...)
View the complete list with 125 more genes
TUBB3, INPP5E, CC2D2A, ATP6V0A2, SRD5A3, TMEM67, NPHP1, CEP290, DLD, SLC25A19, MECP2, PDHB, TUBA1A, RARS2, PDP1, GCSH, GLDC, AMT, PDHA1, DLAT, ETFB, ETFA, ETFDH, MKS1, PDHX, ARX, CREBBP, DHCR7, WDR62, NBN, FKTN, PEX2, PEX1, POMGNT1, SLC12A6, TMEM216, AHI1, FKRP, WASHC5, DYNC1H1, VRK1, POMT2, POMT1, ISPD, LAMA2, B4GAT1, POMGNT2, RXYLT1, LARGE1, B3GALNT2, MCPH1, ASPM, ARFGEF2, CENPJ, DCX, NDE1, PQBP1, RAB3GAP1, RELN, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B, PNKP, TCF4, KIF1BP, OFD1, ATRX, OPHN1, CASK, CUL4B, ZEB2, ACTB, ACTG1, LAMC3, TMEM231, FAT4, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, EXOSC3, TSEN34, TSEN2, TUBB2A, CEP152, CDK5RAP2, PCNT, ATR, GPSM2, POMK, GMPPB, PIEZO2, CHMP1A, TUBB4A, RAB3GAP2, AP4M1, KIF11, EFTUD2, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, RAB18, IER3IP1, VLDLR, DHCR24, PIK3R2, AKT3, NHEJ1, TCTN3, OCLN, ZNF423, CCND2, TBC1D20, RTTN, TUBG1, TUBB, KIF5C, KIF2A, ERMARD, SNAP29, LAMB1, CEP135, KNL1, CEP63, AMPD2, SEPSECS, TUBGCP6, CLP1
Specificity
1 %
Genes
100 %
|
Limb-Girdle Muscular Dystrophy.
By Asper Biogene Asper Biogene LLC in Estonia.
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, CAV3, DYSF, TTN, DES, ANO5, MYOT, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1 , (...)
View the complete list with 6 more genes
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, CAV3, DYSF, TTN, DES, ANO5, MYOT, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, HNRNPDL, POMK, GMPPB
Specificity
4 %
Genes
100 %
|
POMT1-Related Muscle Diseases.
By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany.
POMT1
Specificity
100 %
Genes
100 %
|
Developmental Eye Disease panel.
By Molecular Vision Laboratory in United States.
RAX, PAX6, PITX3, ABCB6, FOXC1, PITX2, MFRP, NDP, OTX2, CYP1B1, SHH, CRX, STRA6, BCOR, SIX6, SOX2, HESX1, PAX2, CHD7, FKTN , (...)
View the complete list with 39 more genes
RAX, PAX6, PITX3, ABCB6, FOXC1, PITX2, MFRP, NDP, OTX2, CYP1B1, SHH, CRX, STRA6, BCOR, SIX6, SOX2, HESX1, PAX2, CHD7, FKTN, FKRP, LAMB2, POMT2, POMT1, ISPD, LARGE1, COL4A1, RAB3GAP1, SIX3, CASK, ZEB2, FOXC2, SOX3, NAA10, GDF6, FOXE3, RAB3GAP2, RAB18, RARB, VAX1, VSX2, BMP4, GDF3, PRSS56, TENM3, ALDH1A3, B3GLCT, SLC25A1, C12orf57, ATOH7, HMGB3, MAB21L2, HMX1, COX7B, TMEM98, ELP4, SNX3, LHX2, DCDC1
Specificity
2 %
Genes
100 %
|
Muscular dystrophy / dystroglycanopathy A1.
By Praxis fuer Humangenetik Wien in Austria.
POMT1
Specificity
100 %
Genes
100 %
|
Muscular dystrophy / dystroglycanopathy B1.
By Praxis fuer Humangenetik Wien in Austria.
POMT1
Specificity
100 %
Genes
100 %
|
Muscular dystrophy, limb-girdle 2K.
By Praxis fuer Humangenetik Wien in Austria.
POMT1
Specificity
100 %
Genes
100 %
|
POMT1 Gene Sequencing.
By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia.
POMT1
Specificity
100 %
Genes
100 %
|
qCarrier Plus.
By Quantitative Genomic Medicine Laboratories, SL in Spain.
F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)
View the complete list with 280 more genes
F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, RAX, TYRP1, SLC45A2, TYR, GPR143, MTRR, CPS1, CPT2, GNPTAB, GLB1, OCRL, ABCA4, NDP, CNGB3, TMEM67, NPHP1, CEP290, CLRN1, USH2A, PCDH15, DLD, SLC25A13, PANK2, HADHA, FH, TULP1, RPGR, RPE65, GUCY2D, CRB1, MECP2, SLC26A4, WHRN, CDH23, IDH3B, ACSF3, PDHB, DHDDS, PDE6A, CNGB1, RS1, FAH, HMGCL, TAT, G6PC, CNGA1, RDH12, SUCLA2, P3H1, HAX1, TUFM, TSFM, CTSD, ACADSB, CERKL, SPG7, PCCB, GLDC, AMT, EYS, ETHE1, MYO7A, AGPS, RP2, OTC, ACSL4, ABCD1, MMADHC, LMBRD1, HEXA, HEXB, ACOX1, PTS, PAH, AGXT, SURF1, CPT1A, GALNS, GNS, HGSNAT, NAGLU, SGSH, MCEE, MMAB, MUT, DBT, MAN2B1, MLYCD, SUCLG1, GALC, IVD, ALDH4A1, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, FXN, LRPPRC, SLC3A1, ASS1, CYP27A1, SLC22A5, SLC25A20, PMM2, MKS1, BBS10, BBS1, BBS2, ASL, TPP1, CLN3, CYP17A1, SLC6A8, NR2E3, ABCD4, ADA, AGA, AHCY, ARSB, GNMT, IL2RG, AIRE, AR, ARSA, ASPA, ARX, CFTR, FANCC, GBA, DHCR7, DMD, GJB2, GLA, IDS, IDUA, LDLR, LIPA, NPC1, NPC2, PLOD1, PLP1, POU3F4, RMRP, SMN1, ATM, NBN, CLN6, CLN8, HBA1, LAMB3, FKTN, G6PD, NEB, CTNS, PROP1, NPHS1, PPT1, PEX7, SGCA, SGCB, SERPINA1, SACS, SLC26A2, UGT1A1, TH, GRHPR, MCOLN1, MPL, PEX1, TTPA, CAPN3, CLN5, LAMC2, PKHD1, TMEM216, NDRG1, SH3TC2, MTMR2, GDAP1, ZFYVE26, SPG11, AHI1, CLCN1, FKRP, DYSF, KCNJ11, GNRHR, CYP21A2, COL4A4, BSND, L1CAM, SPART, TNNT1, POMT2, POMT1, DCX, PQBP1, MFSD8, ATRX, IQSEC2, FGD1, GRIA3, PAK3, KDM5C, SYN1, OPHN1, CASK, CUL4B, OTOF, POLR1C, STRC, SLC4A11, TMPRSS3, PRPS1, TMC1, GJB3, PEX6, TMIE, TRIOBP, TPRN, AP1S2, NLGN4X, PEX10, MVK, PHF8, HUWE1, AFF2, UPF3B, USP9X, GDI1, FTSJ1, RPS6KA3, BRWD3, SLC16A2, IL1RAPL1, THOC2, TRDN, CASQ2, CHST6, DNAH5, PGK1, F11, THRB, JAK3, F9, F8, FANCA, ARL13B, EVC2, SLC46A1, PCBD1, LDLRAP1, CD40LG, SLC39A4, COL7A1, TFR2, HOGA1, HJV, PAX8, DUOXA2, DUOX2, SLC5A5, TPO, SLC6A19, WNT10A, HGD, HAL, CTH, ADK, FTCD, MPP3
Specificity
1 %
Genes
100 %
|
Muscular dystrophy / dystroglycanopathy A1.
By MedGene in Slovakia.
POMT1
Specificity
100 %
Genes
100 %
|
Muscular dystrophy / dystroglycanopathy B1.
By MedGene in Slovakia.
POMT1
Specificity
100 %
Genes
100 %
|
Muscular dystrophy, limb-girdle 2K.
By MedGene in Slovakia.
POMT1
Specificity
100 %
Genes
100 %
|
Invitae Comprehensive Neuromuscular Disorders Panel.
By Invitae in United States.
GAA, CPT2, GNE, TRIM32, CRYAB, VCP, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, TAZ, CHAT, DPAGT1, DMD, SMN1, CHRNE, DOK7, FKTN, NEB , (...)
View the complete list with 84 more genes
GAA, CPT2, GNE, TRIM32, CRYAB, VCP, DPM3, PNPLA2, DPM1, ALG2, SQSTM1, TAZ, CHAT, DPAGT1, DMD, SMN1, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2, LMNA, SMN2, CLCN1, FKRP, CAV3, DYSF, SCN4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, LDB3, MATR3, ATP2A1, BAG3, FHL1, SELENON, CACNA1S, RYR1, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, KCNJ2, COLQ, MUSK, GFPT1, AGRN, CHRNA1, CHRND, CHRNB1, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, LAMP2, FKBP14, MYPN, MYL2, KLHL41, TNPO3, POMK, STAC3, LMOD3, GMPPB, STIM1, VMA21
Specificity
1 %
Genes
100 %
|
Invitae Dystroglycanopathy Panel.
By Invitae in United States.
DPM3, DPM1, FKTN, POMGNT1, FKRP, DAG1, POMT2, POMT1, ISPD, B4GAT1, DPM2, POMGNT2, RXYLT1, LARGE1, B3GALNT2, POMK, GMPPB
Specificity
6 %
Genes
100 %
|
Invitae Comprehensive Muscular Dystrophy Panel.
By Invitae in United States.
GAA, TRIM32, DPM3, PNPLA2, DPM1, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT , (...)
View the complete list with 26 more genes
GAA, TRIM32, DPM3, PNPLA2, DPM1, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, FHL1, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, TNPO3, POMK, GMPPB
Specificity
3 %
Genes
100 %
|
Invitae Congenital Muscular Dystrophy Panel.
By Invitae in United States.
DPM3, DPM1, DMD, FKTN, POMGNT1, LMNA, FKRP, DAG1, POMT2, POMT1, TCAP, ISPD, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3 , (...)
View the complete list with 6 more genes
DPM3, DPM1, DMD, FKTN, POMGNT1, LMNA, FKRP, DAG1, POMT2, POMT1, TCAP, ISPD, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, POMK, GMPPB
Specificity
4 %
Genes
100 %
|
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel.
By Invitae in United States.
TTR, AGL, GAA, EYA4, CPT2, GNE, TRIM32, DSP, CRYAB, RAF1, VCP, DPM3, PNPLA2, DPM1, SQSTM1, TAZ, SLC22A5, DOLK, DMD, GLA , (...)
View the complete list with 93 more genes
TTR, AGL, GAA, EYA4, CPT2, GNE, TRIM32, DSP, CRYAB, RAF1, VCP, DPM3, PNPLA2, DPM1, SQSTM1, TAZ, SLC22A5, DOLK, DMD, GLA, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, DNM2, LMNA, FKRP, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, TIA1, MATR3, ATP2A1, BAG3, FHL1, SELENON, RYR1, MYBPC3, KLHL40, TPM3, ACTA1, CCDC78, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, TNNT1, MTM1, BIN1, TMEM43, EMD, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, LAMA2, B4GAT1, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, HCN4, SCN5A, CACNA1C, LAMP2, FKBP14, ABCC9, PKP2, RYR2, ACTC1, TNNC1, TNNI3, PRKAG2, PLN, DSG2, JUP, MYPN, TPM1, TNNT2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, KLHL41, TNPO3, POMK, STAC3, LMOD3, GMPPB, VCL, STIM1
Specificity
1 %
Genes
100 %
|
Invitae Limb-Girdle Muscular Dystrophy Panel.
By Invitae in United States.
GAA, TRIM32, PNPLA2, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, TRAPPC11, DNAJB6 , (...)
View the complete list with 10 more genes
GAA, TRIM32, PNPLA2, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, TNPO3, POMK, GMPPB
Specificity
4 %
Genes
100 %
|
DYSTROPHIES, CONGENITAL MUSCULAR.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
FKTN, POMGNT1, FKRP, SELENON, POMT2, POMT1, LAMA2, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7
Specificity
9 %
Genes
100 %
|
LIMB-GIRDLE MUSCULAR DYSTROPHY.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, DNAJB6, DAG1, PLEC, POMT2, POMT1 , (...)
View the complete list with 2 more genes
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD
Specificity
5 %
Genes
100 %
|
LIMB-GIRDLE MUSCULAR DYSTROPHY, A.R..
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, FKRP, DYSF, TTN, DES, ANO5, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD
Specificity
6 %
Genes
100 %
|
Congenital disorder of O-linked glycosylation (CDG).
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
B4GALT7, KRT5, FKTN, POMGNT1, FKRP, FGF23, POMT2, POMT1, ISPD, B4GAT1, POMGNT2, LARGE1, COL4A1, CHSY1, CHST14, B3GAT3, B3GALT6, B3GLCT, EXT2, EXT1 , (...)
View the complete list with 9 more genes
B4GALT7, KRT5, FKTN, POMGNT1, FKRP, FGF23, POMT2, POMT1, ISPD, B4GAT1, POMGNT2, LARGE1, COL4A1, CHSY1, CHST14, B3GAT3, B3GALT6, B3GLCT, EXT2, EXT1, MESP2, HES7, LFNG, CHST3, DLL3, GALNT3, SLC35D1, KL, XYLT1
Specificity
4 %
Genes
100 %
|
Walker-Warburg Syndrome.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
FKTN, POMGNT1, FKRP, POMT2, POMT1, ISPD, LARGE1
Specificity
15 %
Genes
100 %
|
Glaucoma (Advance).
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
MTHFR, TTR, BEST1, PAX6, PITX3, OPTN, OPA1, FOXC1, MFRP, CYP1B1, RRM2B, RPGRIP1, CA4, LMX1B, MYOC, RPS19, SBF2, POMT1, ISPD, CANT1 , (...)
View the complete list with 14 more genes
MTHFR, TTR, BEST1, PAX6, PITX3, OPTN, OPA1, FOXC1, MFRP, CYP1B1, RRM2B, RPGRIP1, CA4, LMX1B, MYOC, RPS19, SBF2, POMT1, ISPD, CANT1, ACVR1, ASB10, LTBP2, SLC4A4, SH3PXD2B, VSX2, PRSS56, WDR36, COL18A1, COL8A2, OPTC, NTF4, LOXL1, OLFM2
Specificity
3 %
Genes
100 %
|
DYSTROGLYCANOPATHY.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
DPM3, FKTN, POMGNT1, FKRP, DAG1, POMT2, POMT1, ISPD, B4GAT1, LARGE1, COL4A1
Specificity
10 %
Genes
100 %
|
Walker-Warburg Syndrome: POMT1 Full Gene Sequencing.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
POMT1
Specificity
100 %
Genes
100 %
|
Walker-Warburg Syndrome: POMT1 Gene Deletion/Duplication.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
POMT1
Specificity
100 %
Genes
100 %
|
Congenital Muscular Dystrophy: Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
DPM3, DPM1, FKTN, POMGNT1, LMNA, FKRP, SELENON, RYR1, DAG1, POMT2, POMT1, TCAP, ISPD, LAMA2, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3 , (...)
View the complete list with 4 more genes
DPM3, DPM1, FKTN, POMGNT1, LMNA, FKRP, SELENON, RYR1, DAG1, POMT2, POMT1, TCAP, ISPD, LAMA2, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7
Specificity
5 %
Genes
100 %
|
Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
GAA, GNE, TRIM32, PYGM, PMM2, DMD, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, SGCE, TTN, DES , (...)
View the complete list with 26 more genes
GAA, GNE, TRIM32, PYGM, PMM2, DMD, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, SGCE, TTN, DES, ANO5, MYOT, SELENON, RYR1, TPM3, ACTA1, TPM2, TNNT1, EMD, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SIL1, LAMA2, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7, RYR2, AMPD1, TNNI2, AMPD3
Specificity
3 %
Genes
100 %
|
Brain Malformations: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
TUBB3, CC2D2A, TMEM67, NPHP1, CEP290, TUBA1A, RARS2, MKS1, ARX, WDR62, FKTN, POMGNT1, TMEM216, AHI1, FKRP, VRK1, POMT2, POMT1, LARGE1, ARFGEF2 , (...)
View the complete list with 30 more genes
TUBB3, CC2D2A, TMEM67, NPHP1, CEP290, TUBA1A, RARS2, MKS1, ARX, WDR62, FKTN, POMGNT1, TMEM216, AHI1, FKRP, VRK1, POMT2, POMT1, LARGE1, ARFGEF2, DCX, PQBP1, RAB3GAP1, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, SRPX2, TUBB2B, KIF1BP, OPHN1, CASK, ACTB, ACTG1, LAMC3, EXOSC3, TSEN34, TSEN2, CHMP1A, RAB3GAP2, TMEM237, TMEM138, RPGRIP1L, KIF7, CEP41, EOMES, VLDLR, RTTN
Specificity
2 %
Genes
100 %
|
Congenital Disorders of Glycosylation: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
B4GALT7, ATP6V0A2, SRD5A3, GNE, DDOST, DHDDS, DPM3, PGM1, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG1, ALG8, ALG12, B4GALT1 , (...)
View the complete list with 46 more genes
B4GALT7, ATP6V0A2, SRD5A3, GNE, DDOST, DHDDS, DPM3, PGM1, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG1, ALG8, ALG12, B4GALT1, SLC35A1, ALG6, MPI, ALG3, SLC35C1, MGAT2, PMM2, DOLK, DPAGT1, MOGS, FKTN, POMGNT1, FKRP, POMT2, POMT1, GFPT1, LARGE1, ST3GAL5, ALG13, PIGO, ST3GAL3, PIGA, PIGV, CHSY1, SEC23B, CHST14, CHST6, B3GAT3, COG4, ALG11, COG6, COG5, TMEM165, B3GLCT, EXT2, EXT1, PIGL, ALG14, MAN1B1, LFNG, CHST3, GALNT3, SLC35D1, NGLY1, RPN2, PIGM
Specificity
2 %
Genes
100 %
|
Expanded Neuromuscular Disorders: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
GAA, GNE, TRIM32, CRYAB, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2 , (...)
View the complete list with 58 more genes
GAA, GNE, TRIM32, CRYAB, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2, LMNA, PABPN1, FKRP, CAV3, DYSF, SCN4A, SGCE, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, BSCL2, BAG3, FHL1, SELENON, RYR1, TPM3, ACTA1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, VRK1, IGHMBP2, SYNE1, EMD, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, COLQ, MUSK, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7, CHRNG, RYR2, PLEKHG5, AMPD1, GLE1, TNNI2, MTMR14, AMPD3
Specificity
2 %
Genes
100 %
|
Limb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
GAA, GNE, TRIM32, VCP, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT , (...)
View the complete list with 14 more genes
GAA, GNE, TRIM32, VCP, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, FLNC, ANO5, MYOT, FHL1, SYNE1, SYNE2, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, SMCHD1, COL6A2, COL6A3, COL6A1
Specificity
3 %
Genes
100 %
|
Neurology: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
UBE3A, ADSL, TUBB3, CC2D2A, TMEM67, NPHP1, ADGRV1, CEP290, SHH, POLG, SLC25A19, MECP2, LIAS, GAMT, GATM, STXBP1, TUBA1A, RARS2, CTSD, SLC25A22 , (...)
View the complete list with 144 more genes
UBE3A, ADSL, TUBB3, CC2D2A, TMEM67, NPHP1, ADGRV1, CEP290, SHH, POLG, SLC25A19, MECP2, LIAS, GAMT, GATM, STXBP1, TUBA1A, RARS2, CTSD, SLC25A22, SLC9A6, ALDH7A1, MKS1, TPP1, CLN3, ARX, CDKL5, DHCR7, FOXG1, MEF2C, PCDH19, SLC2A1, WDR62, TSC2, TSC1, PTCH1, CLN6, CLN8, FKTN, PPT1, POMGNT1, CLN5, TMEM216, CSTB, SCN1A, AHI1, FKRP, FGF8, VRK1, POMT2, POMT1, CACNB4, LARGE1, MCPH1, ASPM, ATP1A2, CHRNB2, CPA6, EFHC1, LGI1, GOSR2, NHLRC1, KCTD7, PRICKLE1, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, FOLR1, GRIN2B, KCNT1, KCNQ2, KCNQ3, PNPO, CHRNA2, CHRNA4, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, KCNMA1, SCARB2, TBC1D24, PRRT2, BCKDK, ARFGEF2, CENPJ, DCX, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B, DNAJC5, MFSD8, MAGI2, ST3GAL3, SCN8A, NRXN1, PLCB1, SPTAN1, PNKP, KCNJ10, TCF4, CNTNAP2, KIF1BP, ATRX, ARHGEF9, SYN1, OPHN1, ATP6AP2, CASK, ZEB2, ACTB, ACTG1, LAMC3, EHMT1, EXOSC3, TSEN34, TSEN2, TGIF1, ZIC2, CEP152, NODAL, FOXH1, GLI2, CDK5RAP2, PCNT, ATR, CHMP1A, RAB3GAP2, TMEM237, TMEM138, RPGRIP1L, KIF7, CEP41, EOMES, RAB18, RBBP8, MYCN, VLDLR, DISP1, RTTN, ZNF335, CEP135, KNL1, CEP63, NIN, CDC6, CDT1, ORC6, ORC4, POC1A, MAPK10
Specificity
1 %
Genes
100 %
|
Brain Malformations: Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
TUBB3, CC2D2A, TMEM67, NPHP1, CEP290, TUBA1A, RARS2, MKS1, ARX, WDR62, FKTN, POMGNT1, TMEM216, AHI1, FKRP, VRK1, POMT2, POMT1, LARGE1, ARFGEF2 , (...)
View the complete list with 30 more genes
TUBB3, CC2D2A, TMEM67, NPHP1, CEP290, TUBA1A, RARS2, MKS1, ARX, WDR62, FKTN, POMGNT1, TMEM216, AHI1, FKRP, VRK1, POMT2, POMT1, LARGE1, ARFGEF2, DCX, PQBP1, RAB3GAP1, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, SRPX2, TUBB2B, KIF1BP, OPHN1, CASK, ACTB, ACTG1, LAMC3, EXOSC3, TSEN34, TSEN2, CHMP1A, RAB3GAP2, TMEM237, TMEM138, RPGRIP1L, KIF7, CEP41, EOMES, VLDLR, RTTN
Specificity
2 %
Genes
100 %
|
Congenital Muscular Dystrophy: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
DPM3, DPM1, FKTN, POMGNT1, LMNA, FKRP, SELENON, RYR1, DAG1, POMT2, POMT1, TCAP, ISPD, LAMA2, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3 , (...)
View the complete list with 4 more genes
DPM3, DPM1, FKTN, POMGNT1, LMNA, FKRP, SELENON, RYR1, DAG1, POMT2, POMT1, TCAP, ISPD, LAMA2, DPM2, POMGNT2, CHKB, COL6A2, RXYLT1, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7
Specificity
5 %
Genes
100 %
|
Congenital Disorders of Glycosylation: Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
B4GALT7, ATP6V0A2, SRD5A3, GNE, DDOST, DHDDS, DPM3, PGM1, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG8, ALG12, B4GALT1, SLC35A1 , (...)
View the complete list with 45 more genes
B4GALT7, ATP6V0A2, SRD5A3, GNE, DDOST, DHDDS, DPM3, PGM1, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG8, ALG12, B4GALT1, SLC35A1, ALG6, MPI, ALG3, SLC35C1, MGAT2, PMM2, DOLK, DPAGT1, MOGS, FKTN, POMGNT1, FKRP, POMT2, POMT1, GFPT1, LARGE1, ST3GAL5, ALG13, PIGO, ST3GAL3, PIGA, PIGV, CHSY1, SEC23B, CHST14, CHST6, B3GAT3, COG4, ALG11, COG6, COG5, TMEM165, B3GLCT, EXT2, EXT1, PIGL, ALG14, MAN1B1, LFNG, CHST3, GALNT3, SLC35D1, NGLY1, RPN2, PIGM
Specificity
2 %
Genes
100 %
|
Expanded Neuromuscular Disorders: Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
GAA, GNE, TRIM32, CRYAB, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2 , (...)
View the complete list with 57 more genes
GAA, GNE, TRIM32, CRYAB, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2, LMNA, PABPN1, FKRP, CAV3, DYSF, SCN4A, SGCE, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, BSCL2, BAG3, FHL1, SELENON, RYR1, TPM3, ACTA1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, VRK1, IGHMBP2, SYNE1, EMD, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, COLQ, MUSK, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7, CHRNG, RYR2, PLEKHG5, AMPD1, GLE1, TNNI2, MTMR14
Specificity
2 %
Genes
100 %
|
Muscular Dystrophies NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
TRIM32, CAVIN1, DPM3, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, FHL1, SYNE1 , (...)
View the complete list with 10 more genes
TRIM32, CAVIN1, DPM3, DMD, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, FHL1, SYNE1, TMEM43, SYNE2, EMD, DNAJB6, DAG1, POMT2, POMT1, TCAP, SGCD, MMEL1
Specificity
4 %
Genes
100 %
|
Epilepsy NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)
View the complete list with 323 more genes
MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67, NPHP1, ADGRV1, CEP290, SHH, DLD, POLG, NDUFS4, SLC25A19, PANK2, RAF1, FH, SMPD1, MECP2, COQ9, PDSS2, PDSS1, TMEM70, ABAT, DPM3, GAMT, GATM, STXBP1, COQ8A, RFT1, TUBA1A, RARS2, COG1, COG8, KCNV2, CTSD, SLC25A22, MPDU1, DPM1, COG7, ALG9, ATIC, ALG1, ALG8, ALG2, COQ2, ALG12, B4GALT1, GCSH, GLDC, AMT, SCO2, SLC35A1, ALG6, MPI, ALG3, PDHA1, SLC9A6, HEXA, SUOX, ALDH5A1, HEXB, SLC35C1, ALDH7A1, QDPR, CTSA, NDUFA2, COX15, NDUFS8, NDUFS7, NDUFS3, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, NDUFA1, NDUFS1, NDUFV1, GALC, ALDH4A1, SLC25A15, L2HGDH, ETFB, ETFA, ETFDH, GCDH, LRPPRC, MGAT2, PMM2, APTX, TPP1, CLN3, TACO1, SDHA, AGA, ARSB, DOLK, DPAGT1, MOGS, HPD, FGFR3, ARSA, ASPA, ARX, BRAF, CDKL5, EIF2B1, FOXG1, HRAS, IDS, IDUA, KRAS, MAP2K1, MEF2C, NPC1, NPC2, NRAS, PCDH19, PLP1, PTPN11, RAI1, SHOC2, SLC2A1, SOS1, WDR62, MAP2K2, TSC2, CBL, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, PTCH1, GPC3, CLN6, CLN8, FKTN, PEX2, PPT1, PEX7, MLC1, MCOLN1, PEX1, POMGNT1, SLC17A5, SUMF1, ABCC8, CLN5, EIF2B5, PLA2G6, DPYD, TMEM216, EIF2B3, EIF2B2, EIF2B4, CSTB, SCN1A, AHI1, NOTCH3, FKRP, SCN4A, CACNA1A, NF1, KCNJ11, FGF8, CASR, CLCNKB, KCNJ1, VRK1, POMT2, POMT1, KCNA1, CACNB4, LAMA2, LARGE1, MCPH1, ASPM, ATP1A2, CACNA1H, CHRNB2, EFHC1, LGI1, GABRB3, NHLRC1, KCTD7, PRICKLE1, PRICKLE2, SCN9A, SCN1B, SCN2A, FOLR1, GABRD, GRIN2B, HCN1, KCNQ2, KCNQ3, PNPO, SCN3A, CHRNA2, CHRNA4, EPM2A, GABRA1, GABRG2, GRIN2A, HCN4, MBD5, KCNMA1, SCARB2, SCN5A, TBC1D24, PRRT2, COL4A1, ARFGEF2, CENPJ, DCX, EMX2, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B, MFSD8, KMT2D, MAGI2, SCN8A, NRXN1, GRIN1, PIGV, PLCB1, SPTAN1, PNKP, SAMHD1, KCNJ10, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, KIF1BP, SERPINI1, OFD1, SMS, ATRX, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, SETBP1, ZEB2, TREX1, VPS13B, GFAP, VPS13A, TBX1, LBR, ATP2A2, PEX6, FUCA1, PEX14, PEX3, PEX26, PEX12, PEX5, KAT6B, CLCNKA, NEU1, SPRED1, CCL2, CLCN2, VANGL1, TSEN34, TSEN2, TGIF1, ZIC2, CEP152, ABCB1, NODAL, CDON, GLI2, CDK5RAP2, FLVCR2, PCNT, ATR, GNPTG, GLI3, SCN2B, SCN3B, SCN4B, PGK1, RPGRIP1L, ARL13B, SLC46A1, NHEJ1, LIG4, SNAP29, MED17, ACY1, COL18A1, MAPK10, BUB1B, SCN10A, GLRB, GLRA1, SLC6A5, GPHN, CELSR1, EFHC2
Specificity
1 %
Genes
100 %
|
Glaucoma NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
MTHFR, TTR, BEST1, PAX6, PITX3, OPTN, OPA1, FOXC1, CYP1B1, RRM2B, CA4, LMX1B, MYOC, RPS19, SBF2, POMT1, ISPD, CANT1, ACVR1, LTBP2 , (...)
View the complete list with 5 more genes
MTHFR, TTR, BEST1, PAX6, PITX3, OPTN, OPA1, FOXC1, CYP1B1, RRM2B, CA4, LMX1B, MYOC, RPS19, SBF2, POMT1, ISPD, CANT1, ACVR1, LTBP2, SLC4A4, WDR36, COL18A1, NTF4, LOXL1
Specificity
4 %
Genes
100 %
|
Lissencephaly NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
TUBA1A, ARX, FKTN, POMGNT1, FKRP, POMT2, POMT1, LARGE1, DCX, RELN, PAFAH1B1, ACTB, ACTG1, VLDLR
Specificity
8 %
Genes
100 %
|
Intellectual Disability NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)
View the complete list with 372 more genes
BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2, PAX6, TUBB3, MTR, CPS1, PYCR1, GNPTAB, CC2D2A, SRD5A3, HSD17B10, ELOVL4, NDP, TMEM67, NPHP3, MKKS, CEP290, HSPD1, GCK, SLC25A13, MECP2, FBN1, PDSS1, ALDH18A1, TMEM70, PHKA2, XPNPEP3, PYGL, PHKG2, SLC25A12, GAMT, SPR, STXBP1, TUBA1A, DARS2, TUSC3, HAX1, GFM1, COG7, AP3B1, ALG12, ALG6, MPI, MYO7A, STRA6, D2HGDH, AIFM1, ACSL4, AMER1, SLC9A6, ABCD1, MMADHC, LMBRD1, GM2A, HEXB, SLC35C1, ACOX1, PAH, CTSA, GUSB, SGSH, MOCS2, NDUFA1, NDUFS1, NDUFAF5, CYB5R3, DBT, MANBA, MAN2B1, SUCLG1, ALDH4A1, SLC25A15, CBS, GBE1, GALE, GLYCTK, ASS1, CYP27A1, MGAT2, BBS9, SOX2, CLN3, PPOX, KIF21A, SLC6A8, MTFMT, PDHX, HPD, TSHR, FGFR3, AR, ARX, GBA, CDKL5, CHD7, DHCR7, DMD, FOXG1, IDS, KRAS, MEF2C, NPC1, NPC2, PCDH19, PLP1, PTPN11, RAI1, SLC2A1, TINF2, WDR62, FGFR2, HDAC8, TSC2, SYNGAP1, SMC1A, TSC1, NIPBL, ATM, NBN, CDKN1C, BRIP1, PRKAR1A, FKTN, PEX7, SGCA, SLC7A7, SACS, TH, MCOLN1, POMGNT1, PLA2G6, RAPSN, DPYD, TMEM216, MPZ, SPTLC1, ATL1, ZFYVE26, SCN1A, MAPT, AHI1, FKRP, NF1, FGFR1, KCNJ11, POU1F1, GHR, AVPR2, KIF5A, L1CAM, KIF1A, BIN1, DYNC1H1, POMT2, POMT1, SYT14, SIL1, GRM1, FGF14, LAMA2, LARGE1, ITGA7, MCPH1, ASPM, ATP1A2, CPA6, KCTD7, PRICKLE1, GRIN2B, KCNQ2, CHRNA4, GABRG2, GRIN2A, MBD5, TBC1D24, PIGO, PQBP1, TUBA8, PAFAH1B1, SRPX2, TUBB2B, MFSD8, ATP13A2, ST3GAL3, SCN8A, NRXN1, GRIN1, DYRK1A, PIGV, SPTAN1, SAMHD1, KCNJ10, CNTNAP2, OFD1, SMS, ATRX, IQSEC2, FGD1, SYP, GRIA3, PAK3, KDM5C, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, ZEB2, VPS13B, GFAP, TBX1, LBR, SHANK3, SHANK2, ERCC2, ERCC3, SOX10, KIRREL3, FOXP1, EHMT1, AP1S2, ARID1B, CTNNB1, NLGN3, CANT1, PHF8, IGBP1, HUWE1, AGTR2, AFF2, MBTPS2, LAMP2, MAGT1, DLG3, EBP, TSPAN7, UBE2A, UPF3B, USP9X, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RAB40AL, ZDHHC9, BRWD3, SLC16A2, SOX3, NSDHL, ARHGEF6, IL1RAPL1, TWIST1, NSUN2, TGIF1, ZIC2, PCNT, NAGA, FBN2, ABCC6, GNPTG, GLI3, GAN, LYST, SLC4A4, SDCCAG8, ERCC6, SMARCA4, SMARCB1, ARID1A, ADAR, AP4S1, AP4B1, AP4E1, AP4M1, KIF11, PGK1, LHX3, THRB, ALX4, EFNB1, GNPAT, CTC1, NHP2, GNAS, FANCG, ABCG5, SLX4, CP, SATB2, SLC6A4, RPGRIP1L, KIF7, CEP41, RBBP8, MYCN, VLDLR, ALG11, COG5, TMEM165, SLC46A1, TPK1, SLC20A2, MAT1A, APOB, SLC2A2, RFX6, DHCR24, MYO5A, INSR, ERCC8, STX11, G6PC3, NHEJ1, LIG4, STAT5B, GSS, TTC37, PIGL, HEPACAM, ZFP57, PDE4D, CCDC88C, MED17, CRADD, CACNG2, TECR, MED23, SOBP, CDH15, TRAPPC9, PRSS12, MAN1B1, GRIK2, CRBN, CC2D1A, ORC1, WRN, SLC5A5, TBCE, ACY1, CAMTA1, ERCC5, UROC1, WDR81, BUB1B, AP1S1, AVP, NGF, HOXD10, FAM126A, TRHR, SLC5A2, GLRA1, IGF1, HDAC4, MRAP, IGF1R, AGT, IRX5, TMCO1, ZBTB16, FTO, CEP57, UPB1, KCNK9, DIP2B, GLUL, ZBTB24, SNIP1, XIST, AFP, TPH2, AQP7
Specificity
1 %
Genes
100 %
|
Microcephaly NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
SLC25A19, DNM1L, RARS2, WDR62, MRE11, VRK1, POMT1, MCPH1, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, PNKP, CASK, TSEN34, TSEN2, CEP152 , (...)
View the complete list with 15 more genes
SLC25A19, DNM1L, RARS2, WDR62, MRE11, VRK1, POMT1, MCPH1, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, PNKP, CASK, TSEN34, TSEN2, CEP152, CDK5RAP2, PCNT, KIF11, EFTUD2, IER3IP1, AKT3, NHEJ1, LIG4, MED17, CEP135, CEP63, TUBGCP6, BUB1B, NR2E1, MSMO1
Specificity
3 %
Genes
100 %
|
Neuromuscular NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
TRIM32, PMM2, DMD, FKTN, NEB, PEX2, SGCA, SGCB, PEX1, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, SGCE, TTN, DES, ANO5 , (...)
View the complete list with 30 more genes
TRIM32, PMM2, DMD, FKTN, NEB, PEX2, SGCA, SGCB, PEX1, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, SGCE, TTN, DES, ANO5, MYOT, SELENON, RYR1, TPM3, ACTA1, TPM2, TNNT1, EMD, PLEC, POMT2, POMT1, TCAP, SGCD, SIL1, LAMA2, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7, PEX6, PEX14, PEX3, PEX26, PEX12, PEX5, RYR2, AMPD1, TNNI2, AMPD3
Specificity
2 %
Genes
100 %
|
Dystroglycan-Related Congenital Muscular Dystrophy NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
DPM3, DPM1, FKTN, POMGNT1, FKRP, DAG1, POMT2, POMT1, ISPD, B4GAT1, POMGNT2, LARGE1, GOSR2
Specificity
8 %
Genes
100 %
|
Syndromic Congenital Muscular Dystrophy NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
FKTN, POMGNT1, POMT2, POMT1, LARGE1
Specificity
20 %
Genes
100 %
|
POMT1.
By Fulgent Genetics Fulgent Genetics in United States.
POMT1
Specificity
100 %
Genes
100 %
|
Comprehensive Epilepsy NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)
View the complete list with 427 more genes
MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67, NPHP1, ADGRV1, CEP290, SHH, ME2, DLD, POLG, NDUFS4, SLC25A19, PANK2, RAF1, FH, SMPD1, MECP2, COQ9, PDSS2, PDSS1, LIAS, BOLA3, TMEM70, ABAT, SLC25A12, DPM3, GAMT, GATM, STXBP1, COQ8A, RFT1, TUBA1A, RARS2, COG1, COG8, KCNV2, CTSD, SLC25A22, MPDU1, DPM1, COG7, ALG9, ATIC, ALG1, ALG8, ALG2, GRN, COQ2, ALG12, B4GALT1, GLUD1, GCSH, GLDC, AMT, SCO2, SLC35A1, ALG6, MPI, ALG3, PDHA1, SLC9A6, HEXA, SUOX, ALDH5A1, HEXB, SLC35C1, ALDH7A1, QDPR, CTSA, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, NDUFA1, NDUFS1, NDUFV1, GALC, ALDH4A1, SLC25A15, L2HGDH, ETFB, ETFA, ETFDH, GCDH, LRPPRC, MGAT2, PMM2, APTX, TPP1, CLN3, WWOX, TACO1, FARS2, SLC6A8, SDHA, AGA, ARSB, DOLK, DPAGT1, MOGS, HPD, FGFR3, ARSA, ASPA, ARX, BRAF, CDKL5, CHRNA7, DHCR7, EIF2B1, FOXG1, HRAS, IDS, IDUA, KRAS, MAP2K1, MEF2C, NPC1, NPC2, NRAS, PCDH19, PLP1, PTPN11, RAI1, SHOC2, SLC2A1, SOS1, WDR62, MAP2K2, TSC2, CBL, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, PTCH1, GPC3, CLN6, CLN8, FKTN, PEX2, PPT1, PEX7, MLC1, MCOLN1, PEX1, POMGNT1, SLC17A5, SUMF1, ABCC8, CLN5, EIF2B5, PLA2G6, DPYD, TMEM216, EIF2B3, EIF2B2, EIF2B4, CSTB, SCN1A, AHI1, NOTCH3, FKRP, SCN4A, CACNA1A, NF1, KCNJ11, FGF8, CASR, CLCNKB, KCNJ1, DYNC1H1, VRK1, POMT2, POMT1, KCNA1, CACNB4, SLC1A3, LAMA2, DPM2, LARGE1, MCPH1, ASPM, ATP1A2, CACNA1H, CHRNB2, CPA6, EFHC1, CRH, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, KCNH2, PRICKLE1, PRICKLE2, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, STX1B, SLC35A2, SLC6A1, FOLR1, GABRB2, GABRD, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, SCN3A, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, HCN4, MBD5, KCNMA1, SCARB2, SCN5A, SLC4A10, ALG13, TBC1D24, DEPDC5, PRRT2, BRAT1, PIGO, BCKDK, COL4A1, ARFGEF2, CENPJ, DCX, EMX2, QARS, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, TSEN54, PAFAH1B1, ADGRG1, STIL, SRPX2, TUBB2B, CTSF, DNAJC5, MFSD8, ATP13A2, KMT2D, RBFOX1, CACNA2D2, MAGI2, HNRNPU, TBL1XR1, EEF1A2, KCNA2, DNM1, SIK1, SNAP25, PURA, KCNB1, SLC13A5, DOCK7, NR2F1, NEXMIF, SZT2, GNAO1, WDR45, ST3GAL3, KANSL1, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGV, PLCB1, SPTAN1, PNKP, SAMHD1, KCNJ10, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, KIF1BP, SERPINI1, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, SETBP1, ZEB2, TREX1, VPS13B, GFAP, VPS13A, TBX1, LBR, ATP2A2, PEX6, FUCA1, NTNG1, MED12, PEX14, PEX3, PEX26, PEX12, PEX5, KAT6B, CLCNKA, NEU1, UBE2A, CLCN4, SPRED1, CCL2, CLCN2, NEDD4L, MTOR, VANGL1, TSEN34, TSEN2, TUBB2A, TGIF1, ZIC2, CEP152, ABCB1, NODAL, CDON, GLI2, CDK5RAP2, FLVCR2, PCNT, ATR, GNPTG, GLI3, SCN2B, SCN3B, SCN4B, KDM6A, SMARCA2, ADAR, PGK1, RPGRIP1L, ARL13B, COX10, SLC46A1, AKT3, NHEJ1, LIG4, ASNS, SNAP29, CCDC88C, MED17, ANK3, C12orf57, KCNH5, ACY1, COL18A1, MAPK10, BUB1B, SCN10A, DHFR, GLRB, GLRA1, SLC6A5, HDAC4, SLC12A5, GPHN, SRGAP2, TNK2, HCN2, GABBR2, RYR3, FASN, PIK3AP1, ARHGEF15, CNTN2, KPNA7, RBFOX3, BRD2, VDAC1, UBR5, NIPA2, CELSR1, EFHC2, RANGAP1, KCNAB2, HNRNPH1
Specificity
1 %
Genes
100 %
|
Microcephaly and Pontocerebellar Hypoplasia Panel.
By Blueprint Genetics in Finland.
RARS2, GFM1, WDR62, MRE11, PHGDH, DYNC1H1, VRK1, POMT1, MCPH1, ASPM, MBD5, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, KANSL1, DYRK1A , (...)
View the complete list with 28 more genes
RARS2, GFM1, WDR62, MRE11, PHGDH, DYNC1H1, VRK1, POMT1, MCPH1, ASPM, MBD5, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, KANSL1, DYRK1A, PNKP, OPHN1, CASK, EXOSC3, TSEN2, CEP152, CDK5RAP2, PCNT, ATR, CENPF, STAMBP, KIF11, EFTUD2, MYCN, AKT3, NHEJ1, LIG4, RTTN, KATNB1, MFSD2A, CEP63, XRCC4, PLK4, AMPD2, SEPSECS, TUBGCP4, TUBGCP6, WDR73
Specificity
3 %
Genes
100 %
|
Lissencephaly Panel.
By Blueprint Genetics in Finland.
ATP6V0A2, TUBA1A, ARX, FKTN, POMT1, ISPD, POMGNT2, LARGE1, DCX, RELN, PAFAH1B1, TUBB2B, ACTB, ACTG1, VLDLR, KATNB1, TUBG1, LAMB1, YWHAE
Specificity
6 %
Genes
100 %
|
LGMD and Congenital Muscular Dystrophy Panel.
By Blueprint Genetics in Finland.
TRIM32, CRYAB, PNPLA2, DMD, FKTN, SGCA, SGCB, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, MYH7, ANO5, MYOT, SELENON, MEGF10 , (...)
View the complete list with 22 more genes
TRIM32, CRYAB, PNPLA2, DMD, FKTN, SGCA, SGCB, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, MYH7, ANO5, MYOT, SELENON, MEGF10, SYNE1, TRAPPC11, DNAJB6, POMT1, TCAP, SGCD, ISPD, SMCHD1, LAMA2, POMGNT2, LARGE1, B3GALNT2, ITGA7, COL4A1, LIMS2, TNPO3, TOR1AIP1, SPEG, GMPPB, POGLUT1, COL4A2, VMA21
Specificity
3 %
Genes
100 %
|
Comprehensive Muscular Dystrophy / Myopathy Panel.
By Blueprint Genetics in Finland.
GAA, TRIM32, POLG, CRYAB, PNPLA2, SEPT9, DMD, FKTN, NEB, SGCA, SGCB, SGCG, CAPN3, LMNA, PABPN1, FKRP, CAV3, DYSF, TTN, DES , (...)
View the complete list with 53 more genes
GAA, TRIM32, POLG, CRYAB, PNPLA2, SEPT9, DMD, FKTN, NEB, SGCA, SGCB, SGCG, CAPN3, LMNA, PABPN1, FKRP, CAV3, DYSF, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, ATP2A1, BAG3, FHL1, SELENON, KLHL40, TPM3, ACTA1, MEGF10, KBTBD13, CFL2, TPM2, TNNT1, MTM1, SYNE1, TMEM43, EMD, TRAPPC11, DNAJB6, POMT1, TCAP, SGCD, ISPD, SMCHD1, LAMA2, POMGNT2, COL6A2, COL6A3, LARGE1, COL6A1, B3GALNT2, ITGA7, COL4A1, VPS13A, MME, COL12A1, KLHL41, LIMS2, TNPO3, TOR1AIP1, SPEG, LMOD3, GMPPB, MICU1, POGLUT1, RBCK1, COL4A2, VMA21, TMEM126B
Specificity
2 %
Genes
100 %
|
Comprehensive Cardiology Panel.
By Blueprint Genetics in Finland.
HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1 , (...)
View the complete list with 165 more genes
HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1, AGK, TMEM70, PNPLA2, TSFM, DNAJC19, GFM1, PCCB, PCCA, SCO2, TAZ, COX15, GUSB, MLYCD, GBE1, ETFB, ETFA, ETFDH, FXN, SLC22A5, SLC25A20, ALMS1, SDHA, DOLK, BRAF, DMD, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, FKTN, SGCA, SGCB, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, NF1, SCNN1G, SCNN1B, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, BAG3, FHL1, SELENON, MYBPC3, ACTA1, TMEM43, EMD, PLEC, POMT1, TCAP, SGCD, ISPD, SMCHD1, KCNJ2, LAMA2, LARGE1, KCNH2, SCN1B, HCN4, SCN5A, CACNA2D1, EEF1A2, VPS13A, KCNE1, KCNQ1, CACNA1C, LZTR1, LAMP2, SPRED1, RASA2, RRAS, ACTA2, ABCC6, TRPM4, ABCC9, SCN3B, CACNB2, PKP2, ANK2, RYR2, CALM1, CALM2, TRDN, KCNE2, KCNJ5, CASQ2, AKAP9, KCNA5, ACTC1, TGFB3, PRDM16, NKX2-5, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, TPM1, TNNT2, GATAD1, JPH2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, TOR1AIP1, SPEG, GMPPB, VCL, NOS1AP, SALL4, TBX5, PPP1CB, DBH, APOA1, GATA6, XK, EPG5, NUP155, ENPP1, SCN10A, CTNNA3, RBCK1, GATA5, TBX20, ALPK3, CALR3, CALM3, TAB2, TNNI3K, MYL4, GTPBP3, RMND1, TECRL, FOXD4, HAND1, CDH2, MYBPHL, FBXO32, LRRC10, PPA2, PLEKHM2
Specificity
1 %
Genes
100 %
|
Neuronal Migration Disorder Panel.
By Blueprint Genetics in Finland.
TUBB3, ATP6V0A2, FH, TUBA1A, ARX, MEF2C, WDR62, FKTN, PHGDH, L1CAM, DYNC1H1, POMT1, ISPD, LAMA2, POMGNT2, RXYLT1, LARGE1, B3GALNT2, COL4A1, ARFGEF2 , (...)
View the complete list with 38 more genes
TUBB3, ATP6V0A2, FH, TUBA1A, ARX, MEF2C, WDR62, FKTN, PHGDH, L1CAM, DYNC1H1, POMT1, ISPD, LAMA2, POMGNT2, RXYLT1, LARGE1, B3GALNT2, COL4A1, ARFGEF2, DCX, EMX2, NDE1, RAB3GAP1, RELN, TUBA8, FLNA, PAFAH1B1, ADGRG1, SRPX2, TUBB2B, KIF1BP, ACTB, ACTG1, MED12, LAMC3, FAT4, NSDHL, TUBB2A, FLVCR2, GPSM2, GMPPB, RAB3GAP2, KIF7, PIK3CA, RAB18, VLDLR, PIK3R2, AKT3, OCLN, RTTN, KATNB1, TUBG1, MPDZ, LAMB1, SEPSECS, COL4A2, YWHAE
Specificity
2 %
Genes
100 %
|
Walker-Warburg syndrome.
By Bioarray in Spain.
POMT1
Specificity
100 %
Genes
100 %
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE:NGS NGS PANEL.
By Laboratorio de Genetica Clinica SL in Spain.
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2 , (...)
View the complete list with 6 more genes
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, TRAPPC11, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, TNPO3, HNRNPDL, GMPPB
Specificity
4 %
Genes
100 %
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K (AUT. RECESSIVE) - INTELLECTUAL DEFICIT.
By Laboratorio de Genetica Clinica SL in Spain.
POMT1
Specificity
100 %
Genes
100 %
|
WALKER - WALBURG SYNDROME.
By Laboratorio de Genetica Clinica SL in Spain.
FKTN, FKRP, POMT2, POMT1
Specificity
25 %
Genes
100 %
|
Limb-girdle muscular dystrophy panel.
By LifeLabs Genetics in Canada.
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, DNAJB6, DAG1, PLEC, POMT2, POMT1 , (...)
View the complete list with 2 more genes
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD
Specificity
5 %
Genes
100 %
|
Walker-Warburg Syndrome , Panel Massive Sequencing 13 Genes.
By Reference Laboratory Genetics in Spain.
FKTN, POMGNT1, FKRP, DAG1, POMT2, POMT1, ISPD, B4GAT1, RXYLT1, LARGE1, B3GALNT2, POMK, GMPPB
Specificity
8 %
Genes
100 %
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy, Panel Massive Sequencing (NGS) 17 Genes.
By Reference Laboratory Genetics in Spain.
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, FKRP, DYSF, TTN, ANO5, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD
Specificity
6 %
Genes
100 %
|
Limb-Girdle Muscular Distrophy , Panel Massive Sequencing (NGS) 22 Genes.
By Reference Laboratory Genetics in Spain.
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, DNAJB6, DAG1, PLEC, POMT2, POMT1 , (...)
View the complete list with 2 more genes
TRIM32, FKTN, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, TTN, DES, ANO5, MYOT, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD
Specificity
5 %
Genes
100 %
|
Congenital Muscular Dystrophies, Panel Massive Sequencing (NGS) 12 Genes.
By Reference Laboratory Genetics in Spain.
FKTN, POMGNT1, FKRP, SELENON, POMT2, POMT1, LAMA2, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7
Specificity
9 %
Genes
100 %
|
Dystroglycanopathies , Panel Massive Sequencing (NGS) 9 Genes.
By Reference Laboratory Genetics in Spain.
FKTN, POMGNT1, FKRP, DAG1, POMT2, POMT1, ISPD, B4GAT1, LARGE1
Specificity
12 %
Genes
100 %
|
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes.
By Reference Laboratory Genetics in Spain.
GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, PHKA1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, PEX2, PEX7 , (...)
View the complete list with 91 more genes
GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, PHKA1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, PEX2, PEX7, SGCA, SGCB, PEX1, POMGNT1, SGCG, CAPN3, RAPSN, TRPV4, DNM2, LMNA, CLCN1, PABPN1, FKRP, CAV3, UBA1, DYSF, SCN4A, TOR1A, SGCE, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, ATP2A1, BSCL2, BAG3, FHL1, SELENON, CACNA1S, RYR1, TPM3, ACTA1, MEGF10, KBTBD13, CNTN1, CFL2, TPM2, MYH2, TNNT1, MTM1, BIN1, DYNC1H1, VRK1, IGHMBP2, SYNE1, TMEM43, SYNE2, EMD, DNAJB6, DAG1, PLEC, POMT2, POMT1, TCAP, SGCD, ISPD, COLQ, MUSK, CHRNA1, CHRND, CHRNB1, SIL1, LAMA2, CHKB, COL6A2, COL6A3, LARGE1, COL6A1, ITGA7, PEX6, CACNA1C, PEX14, PEX3, PEX26, PEX10, PEX12, PEX5, CHRNG, LAMP2, RYR2, PLEKHG5, AMPD1, GLE1, TNNI2, MTMR14, TNNT3, PEX11B, AMPD3
Specificity
1 %
Genes
100 %
|
Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes.
By Reference Laboratory Genetics in Spain.
TUBB3, TUBA1A, ARX, FOXG1, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, LAMA2, LARGE1, ASPM, COL4A1, ARFGEF2, DCX, NDE1, RELN, TUBA8 , (...)
View the complete list with 18 more genes
TUBB3, TUBA1A, ARX, FOXG1, WDR62, FKTN, POMGNT1, FKRP, DYNC1H1, POMT2, POMT1, LAMA2, LARGE1, ASPM, COL4A1, ARFGEF2, DCX, NDE1, RELN, TUBA8, FLNA, PAFAH1B1, ADGRG1, SRPX2, TUBB2B, KIF1BP, OPHN1, CASK, ACTB, ACTG1, LAMC3, GPSM2, PIK3CA, VLDLR, PIK3R2, AKT3, OCLN, LAMB1
Specificity
3 %
Genes
100 %
|
Muscular Dystrophy-dystroglycanopathy (limb-girdle), Type C, 1; Mddgc1 Is also known as muscular dystrophy, limb-girdle, type 2k;lgmd2k;lgmd2k; limb-girdle muscular dystrophy-intellectual disability syndrome.