—
Based on the latest data available Epileptic Encephalopathy, Early Infantile, 6; Eiee6 have a estimated birth prevalence of 2.5 per 100k
in Europe.
| Panel Name, Specifity and genes Tested/covered |
SCN1A Deletion Test.
By Athena Diagnostics Inc in United States.
SCN1A
Specificity
100 %
Genes
13 %
|
SCN1A Sequencing and CNV Evaluation.
By Athena Diagnostics Inc in United States.
SCN1A
Specificity
100 %
Genes
13 %
|
Hemiplegic Migraine Sequencing Evaluation.
By Athena Diagnostics Inc in United States.
ATP1A2, CACNA1A, SCN1A
Specificity
34 %
Genes
13 %
|
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies.
By Athena Diagnostics Inc in United States.
BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, LMNB2, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A , (...)
View the complete list with 64 more genes
BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, LMNB2, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCNH2, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ASPM, CACNB4, DYNC1H1, CASR, CACNA1A, SCN1A, CSTB, PHGDH, SLC2A1, PCDH19, CHRNA7, SLC6A8, CYP27A1, L2HGDH, NDUFA1, ALDH7A1, AMT, GLDC, ALG9, SUCLA2, GATM, GAMT, ABAT, LIAS, SLC25A19, ADSL, ALPL
Specificity
9 %
Genes
88 %
|
SCN1A Sequencing Test (FHM).
By Athena Diagnostics Inc in United States.
SCN1A
Specificity
100 %
Genes
13 %
|
Epilepsy Advanced Sequencing and CNV Evaluation.
By Athena Diagnostics Inc in United States.
IQSEC2, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A , (...)
View the complete list with 214 more genes
IQSEC2, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, NR2F1, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, SETD2, HNRNPU, MAGI2, CACNA2D2, RBFOX1, CACNA2D1, KMT2D, ATP13A2, MFSD8, DNAJC5, CTSF, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, DEAF1, CENPJ, ARFGEF2, COL4A1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, LMNB2, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCNH2, KCTD7, NHLRC1, ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, GOSR2, GABRB3, LGI1, CRH, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, ASPM, MCPH1, LARGE1, LAMA2, CACNB4, KCNA1, POMT1, POMT2, DYNC1H1, CASR, KCNJ11, CACNA1A, FKRP, NOTCH3, SCN1A, CSTB, DPYD, PLA2G6, PHGDH, CLN5, POMGNT1, PEX7, PPT1, FKTN, CLN8, CLN6, GPC3, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, TSC2, WDR62, SLC2A1, RAI1, PLP1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, ARX, FGFR3, SLC6A8, WWOX, CLN3, TPP1, CYP27A1, L2HGDH, NDUFA1, ALDH7A1, SLC9A6, AMT, GLDC, GRN, ALG9, SLC25A22, CTSD, TUBA1A, SUCLA2, STXBP1, GATM, GAMT, ABAT, LIAS, MECP2, PANK2, SLC25A19, POLG, SHH, ADGRV1, HPRT1, HSD17B10, ATP6V0A2, CPT2, PAX6, ADSL, ALPL, UBE3A
Specificity
4 %
Genes
100 %
|
Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy.
By Athena Diagnostics Inc in United States.
TREX1, ZEB2, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, PIGN, GRIN1, NRXN1, PIGA, SCN8A, WDR45, GNAO1, SZT2 , (...)
View the complete list with 47 more genes
TREX1, ZEB2, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, PIGN, GRIN1, NRXN1, PIGA, SCN8A, WDR45, GNAO1, SZT2, DOCK7, SLC13A5, KCNB1, PURA, SIK1, DNM1, KCNA2, EEF1A2, HNRNPU, CACNA2D2, CACNA2D1, QARS, BRAT1, ALG13, GRIN2A, GABRG2, CHD2, PNPO, KCNT1, HCN1, GRIN2B, SLC35A2, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, KCNJ11, SCN1A, SYNGAP1, SLC2A1, PCDH19, FOXG1, CDKL5, ARX, WWOX, SLC9A6, AMT, GLDC, ALG9, SLC25A22, STXBP1, LIAS, MECP2, SLC25A19, ADSL, UBE3A
Specificity
11 %
Genes
88 %
|
Epilepsy Advanced Sequencing and CNV Evaluation - Epilepsy with Migraine.
By Athena Diagnostics Inc in United States.
PRRT2, ATP1A2, CACNA1A, NOTCH3, SCN1A, SLC2A1, POLG
Specificity
15 %
Genes
13 %
|
SCN1A CNV Test.
By Athena Diagnostics Inc in United States.
SCN1A
Specificity
100 %
Genes
13 %
|
Syndromic Autism Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.
NLGN3, NLGN4X, CTNNB1, UBE3C, ARID1B, TMEM231, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, NTNG1, ADNP , (...)
View the complete list with 63 more genes
NLGN3, NLGN4X, CTNNB1, UBE3C, ARID1B, TMEM231, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, NTNG1, ADNP, PTCHD1, SHANK3, VPS13B, ZEB2, SETBP1, RAB39B, CASK, OPHN1, KDM5C, PHF6, FGD1, ATRX, CNTNAP2, TCF4, PNKP, DYRK1A, NRXN1, TBL1XR1, SETD2, PAFAH1B1, RELN, PQBP1, BCKDK, MBD5, GRIN2B, FOLR1, SCN2A, GABRB3, SYNE1, L1CAM, SCN1A, NSD1, NIPBL, TSC1, SMC1A, SMC3, RAD21, TSC2, HDAC8, SLC2A1, RAI1, PTPN11, PCDH19, MEF2C, FOXG1, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, TMLHE, ALDH5A1, SLC9A6, AMT, TUBA1A, STXBP1, MECP2, NHS, HPRT1, PTEN, UBE3A, FMR1
Specificity
5 %
Genes
50 %
|
NGS Epilepsy/Seizure Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.
ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, ABCB1, CEP152, NALCN, ZIC2, TGIF1, TUBB2A, TSEN2, TSEN34, EXOSC3, KCNAB1, VANGL1, MTOR , (...)
View the complete list with 125 more genes
ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, ABCB1, CEP152, NALCN, ZIC2, TGIF1, TUBB2A, TSEN2, TSEN34, EXOSC3, KCNAB1, VANGL1, MTOR, NEDD4L, CLCN2, CCL2, NECAP1, ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, KANSL1, ST3GAL3, SZT2, DOCK7, SLC13A5, SNAP25, HNRNPU, MAGI2, CACNA2D1, MFSD8, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, RELN, SIX3, NDE1, QARS, EMX2, DCX, CENPJ, ARFGEF2, PRRT2, DEPDC5, TBC1D24, SCN5A, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, KCNT1, GRIN2B, GABRD, FOLR1, SLC35A2, SYNJ1, SCN2A, SCN1B, ST3GAL5, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CHRNB2, ATP1A2, ASPM, MCPH1, CACNB4, KCNA1, CASR, KCNJ11, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, PTCH1, TSC1, SYNGAP1, TSC2, WDR62, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, CLN3, TPP1, NDUFA1, ALDH7A1, SLC9A6, SLC25A22, CTSD, STXBP1, GATM, GAMT, ABAT, LIAS, MECP2, SLC25A19, POLG, SHH, ADSL, UBE3A, MTHFR
Specificity
6 %
Genes
100 %
|
Epilepsy, Generalized With Febrile Seizures Plus, Type 2/Dravet Syndrome (SCN1A).
By Center for Human Genetics, Inc in United States.
SCN1A
Specificity
100 %
Genes
13 %
|
Autsim Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
NR1I3, AVPR1A, BDNF, SLC6A4, AUTS2, DOCK4, GABRG1, GNA14, IMMP2L, KATNAL2, KCTD13, KLHL3, NEGR1, PDE10A, PIP5K1B, PON3, SATB2, SMG6, SOX5, ST7 , (...)
View the complete list with 87 more genes
NR1I3, AVPR1A, BDNF, SLC6A4, AUTS2, DOCK4, GABRG1, GNA14, IMMP2L, KATNAL2, KCTD13, KLHL3, NEGR1, PDE10A, PIP5K1B, PON3, SATB2, SMG6, SOX5, ST7, STK3, ZNF507, ZNF804A, ZNHIT6, CNTNAP5, DLGAP2, DPP10, DPP6, GRPR, PCDH9, SLC9A9, SMARCB1, MAGEL2, SNRPN, RPL10, UBE2A, AFF2, NLGN3, NLGN4X, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, NTNG1, PTCHD1, SHANK2, SHANK3, VPS13B, ZEB2, RAB39B, CASK, OPHN1, KDM5C, PHF6, FGD1, ATRX, CNTNAP2, TCF4, PNKP, ANKRD11, NRXN1, RBFOX1, PAFAH1B1, RELN, PQBP1, MBD5, GRIN2B, FOLR1, SCN2A, GABRB3, L1CAM, SPAST, SCN1A, MET, NSD1, NIPBL, TSC1, SMC1A, TSC2, SLC2A1, RAI1, PTPN11, PCDH19, MEF2C, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, SLC9A6, MECP2, NHS, HPRT1, ADSL, PTEN, UBE3A, FMR1
Specificity
3 %
Genes
38 %
|
Childhood Epilepsy.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
ZEB2, SYN1, CNTNAP2, PNKP, NRXN1, WDR45, MAGI2, MFSD8, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, FOLR1, SCN2A, SCN1B, PRICKLE1 , (...)
View the complete list with 27 more genes
ZEB2, SYN1, CNTNAP2, PNKP, NRXN1, WDR45, MAGI2, MFSD8, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, FOLR1, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, CACNB4, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, SLC2A1, MEF2C, FOXG1, CDKL5, CLN3, TPP1, SLC9A6, CTSD, GATM, GAMT, MECP2, POLG, ADSL, UBE3A
Specificity
11 %
Genes
63 %
|
Epilepsy/Seizure.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
PSPH, PCBD1, ZEB2, CASK, OPHN1, SYN1, ARHGEF9, CNTNAP2, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, WDR45, MAGI2, MFSD8, DNAJC5, ADGRG1, PAFAH1B1 , (...)
View the complete list with 78 more genes
PSPH, PCBD1, ZEB2, CASK, OPHN1, SYN1, ARHGEF9, CNTNAP2, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, WDR45, MAGI2, MFSD8, DNAJC5, ADGRG1, PAFAH1B1, TSEN54, FLNA, DCX, PRRT2, TBC1D24, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, FOLR1, SCN2A, SCN1B, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CPA6, CHRNB2, ATP1A2, ASPM, MCPH1, CACNB4, CASR, GCH1, CACNA1A, SCN1A, CSTB, PHGDH, CLN5, PPT1, CLN8, CLN6, TSC1, TSC2, WDR62, SLC2A1, MEF2C, FOXG1, CDKL5, ARX, SLC6A8, CLN3, TPP1, QDPR, PTS, ALDH7A1, ALDH5A1, SLC9A6, AMT, GLDC, SLC25A22, CTSD, STXBP1, GATM, GAMT, ABAT, LIAS, MECP2, POLG, ADGRV1, MMACHC, ADSL, BTD, UBE3A, MTHFR
Specificity
8 %
Genes
88 %
|
Infantile Epilepsy.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
PCBD1, ZEB2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, WDR45, MAGI2, MFSD8, PRRT2, TBC1D24, MBD5, GRIN2A, GABRG2, PNPO, KCNQ3, KCNQ2 , (...)
View the complete list with 40 more genes
PCBD1, ZEB2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, WDR45, MAGI2, MFSD8, PRRT2, TBC1D24, MBD5, GRIN2A, GABRG2, PNPO, KCNQ3, KCNQ2, FOLR1, SCN2A, SCN1B, KCTD7, GCH1, SCN1A, PHGDH, CLN5, PPT1, CLN8, CLN6, TSC1, TSC2, SLC2A1, MEF2C, FOXG1, CDKL5, ARX, SLC6A8, CLN3, TPP1, QDPR, PTS, ALDH7A1, ALDH5A1, SLC9A6, AMT, GLDC, SLC25A22, CTSD, STXBP1, GAMT, LIAS, MECP2, POLG, MMACHC, ADSL, BTD, UBE3A, MTHFR
Specificity
9 %
Genes
63 %
|
Migraine and Strokes Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
HTRA1, COL4A1, ATP1A2, CACNA1A, NOTCH3, SCN1A, SLC2A1, POLG
Specificity
13 %
Genes
13 %
|
SCN1A Sequencing.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
SCN1A
Specificity
100 %
Genes
13 %
|
SCN1A Deletion/duplication analysis.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
SCN1A
Specificity
100 %
Genes
13 %
|
SCN1A sequencing.
By Genetic Services Laboratory University of Chicago in United States.
SCN1A
Specificity
100 %
Genes
13 %
|
Early Infantile Epileptic Encephalopathy Panel.
By Genetic Services Laboratory University of Chicago in United States.
KCNH5, NECAP1, CLCN4, CASK, ARHGEF9, PNKP, SPTAN1, PLCB1, SCN8A, ST3GAL3, GNAO1, SZT2, DOCK7, SLC13A5, KCNB1, DNM1, KCNA2, EEF1A2, CACNA2D2, ARFGEF2 , (...)
View the complete list with 25 more genes
KCNH5, NECAP1, CLCN4, CASK, ARHGEF9, PNKP, SPTAN1, PLCB1, SCN8A, ST3GAL3, GNAO1, SZT2, DOCK7, SLC13A5, KCNB1, DNM1, KCNA2, EEF1A2, CACNA2D2, ARFGEF2, BRAT1, TBC1D24, ALG13, GRIN2A, GABRA1, CHD2, KCNQ2, KCNT1, HCN1, GRIN2B, SCN2A, ST3GAL5, GABRB3, EFHC1, SCN1A, SYNGAP1, SLC2A1, PCDH19, CDKL5, ARX, WWOX, ETHE1, SLC25A22, STXBP1, POLG
Specificity
12 %
Genes
63 %
|
Ataxia Exome Panel.
By Genetic Services Laboratory University of Chicago in United States.
PIGG, CHAMP1, THG1L, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, APOPT1, CHCHD10, PRDM8, PET100, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, XPA, TRNT1 , (...)
View the complete list with 460 more genes
PIGG, CHAMP1, THG1L, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, APOPT1, CHCHD10, PRDM8, PET100, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, XPA, TRNT1, UROC1, PMPCA, RUBCN, COQ4, SLC52A3, SLC9A1, MAPK10, YME1L1, LMNB1, ITM2B, FGF12, DGAT2, ARV1, STUB1, PUM1, OTUD4, NAT8L, ZIC4, VARS, TDP2, TRPC3, TELO2, SLC6A19, RNF168, ERCC5, SCYL1, RNF216, RNASEH1, RTN4IP1, ELOVL5, PTRH2, DMXL2, PCNA, PIK3R5, NOL3, GRID2, LAMA1, SLC52A2, EBF3, COL18A1, DOCK3, ATCAY, BEAN1, CAMTA1, CACNA1G, CTBP1, ATP2B3, ATP8A2, RARS, NAXE, AAAS, NUP62, UBA5, MECR, COX20, TBCE, SEPSECS, XRCC4, ZIC1, CA8, CCDC88C, ARL6IP1, IBA57, TUBB, LRP4, DNAJC3, HEPACAM, HERC1, CSPP1, PDE6D, TMEM107, CEP120, CEP104, KIAA0556, SAMD9L, TCTN3, PGM3, SLC25A46, ADA2, SLC39A4, GSS, GCLC, LIG4, ERCC8, APOB, SLC20A2, TPK1, SLC46A1, PRNP, COG4, MT-TP, SCO1, COX10, MARS2, VLDLR, EOMES, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, ERCC4, CP, FTL, GJA1, CTC1, RNASET2, HNRNPH2, PGK1, CTDP1, AP4M1, AP4E1, AP4B1, AP4S1, ERLIN2, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, UCHL1, C19orf12, KIF1C, NT5C2, ENTPD1, CPT1C, MAG, HACE1, CAPN1, KIDINS220, ERLIN1, ERCC6, CHMP1A, PIEZO2, GMPPB, FBXL4, NKX2-1, CAV1, IFT140, GAN, LRSAM1, MME, NALCN, TSEN2, TSEN34, EXOSC3, CLCN2, SLC16A2, DKC1, NEU1, MVK, PEX10, PEX26, PEX16, KIAA0586, AP1S2, PRPS1, SLC19A2, SOX10, DNMT1, POLR1C, ERCC3, CLPP, HTRA1, GFAP, CUL4B, CASK, OPHN1, OFD1, TCF4, KCNJ10, PNKP, SPTAN1, SCN8A, ROGDI, SLC13A5, SNAP25, KCNA2, ATP13A2, MFSD8, DNAJC5, CTSF, ADGRG1, TSEN54, RELN, DCX, BRAT1, PRRT2, TBC1D24, SCARB2, MBD5, LMNB2, EPM2A, KCNC1, KCNQ2, HCN1, FOLR1, SLC6A1, SCN2A, SLC19A3, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, ATP1A3, ATP1A2, LARGE1, POMGNT2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, ISPD, POMT1, POMT2, TRAPPC11, SYNE1, VRK1, DYNC1H1, SETX, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, RTN2, BSCL2, SLC33A1, NIPA1, L1CAM, KIF5A, SPAST, GCH1, CACNA1A, FKRP, AHI1, SCN1A, CSTB, SPG11, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, ATL1, GJB1, DNM2, EGR2, PMP22, MPZ, SH3TC2, PRX, TMEM216, PLA2G6, EIF2B5, CLN5, TTPA, SUMF1, SLC17A5, POMGNT1, PEX1, MLC1, TH, SACS, PEX7, PPT1, PEX2, FKTN, CLN8, CLN6, PRF1, SDHD, NF2, MRE11, ATM, WDR62, TINF2, SLC2A1, PLP1, PCDH19, NPC2, NPC1, GJC2, FOXG1, EIF2B1, CDKL5, ARSA, PNP, SDHA, MTFMT, FARS2, TACO1, SOD1, PNKD, WWOX, TPP1, ASL, APTX, MKS1, PMM2, CYP27A1, ASS1, COX6B1, FASTKD2, LRPPRC, FXN, GBE1, L2HGDH, GALC, DLAT, SUCLG1, DBT, HIBCH, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, CTSA, MPV17, PTS, PHYH, HEXB, ALDH5A1, SUOX, HEXA, TCN2, MMADHC, ABCD1, SLC9A6, ABCB7, PDHA1, OTC, SQSTM1, ETHE1, TYMP, ALG6, SPG7, COQ2, GRN, DPM1, FLVCR1, MPDU1, CTSD, DNAJC19, REEP1, TSFM, DARS2, RARS2, TUBA1A, RFT1, COQ8A, STXBP1, SPR, GAMT, GPI, NUBPL, NDUFA10, MTPAP, TTC19, NDUFAF1, TMEM70, PDHB, ALDH18A1, COX14, NDUFA9, NDUFB3, HARS, NDUFA12, ACO2, COQ6, PDSS1, PDSS2, COQ9, MECP2, OPA3, PANK2, KIF1B, NDUFAF2, RRM2B, FOXRED1, AFG3L2, HSPD1, NDUFS4, POLG, DLD, CEP290, NPHP1, TMEM67, ELOVL4, CC2D2A, GLB1, PSAP, WFS1, OPA1, CPS1, HSD17B4, AMACR, INPP5E, PSEN1, PAX6, PRKCG, ADSL, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATPAF2, ATP7B, BTD, HLCS, UQCRB, UQCRQ, PC, ABHD12, AARS2, UBE3A, TTR, FMR1
Specificity
1 %
Genes
50 %
|
Epilepsy Panel - Comprehensive.
By Molecular Genetics Laboratory London Health Sciences Centre in Canada.
PSAT1, CERS1, PSPH, NECAP1, NEU1, ZEB2, CNTNAP2, TCF4, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, DOCK7, DNM1, PRRT2, TBC1D24, ASAH1, SCARB2, MBD5 , (...)
View the complete list with 49 more genes
PSAT1, CERS1, PSPH, NECAP1, NEU1, ZEB2, CNTNAP2, TCF4, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, DOCK7, DNM1, PRRT2, TBC1D24, ASAH1, SCARB2, MBD5, LMNB2, GRIN2A, EPM2A, CHD2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SCN2A, SCN1B, SCN9A, PRICKLE2, KCTD7, NHLRC1, GOSR2, ATP1A3, ATP1A2, KCNJ2, KCNJ11, SCN1A, CSTB, PHGDH, TSC1, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, ARX, SLC6A8, MOCS1, ALDH7A1, SUOX, SLC9A6, AMT, GLDC, STXBP1, GATM, GAMT, MECP2, POLG, UBE3A
Specificity
9 %
Genes
75 %
|
Comprehensive Epilepsy Panel.
By GeneDx in United States.
ZEB2, ATP6AP2, SYN1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, KANSL1, MAGI2, MFSD8, DNAJC5, SRPX2, PRRT2, TBC1D24, SCARB2, MBD5, GRIN2A , (...)
View the complete list with 50 more genes
ZEB2, ATP6AP2, SYN1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, KANSL1, MAGI2, MFSD8, DNAJC5, SRPX2, PRRT2, TBC1D24, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, GRIN2B, FOLR1, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, ATP1A2, CACNB4, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, ARX, CLN3, TPP1, ALDH7A1, SLC9A6, SLC25A22, CTSD, STXBP1, GATM, GAMT, LIAS, MECP2, POLG, ADSL, UBE3A
Specificity
10 %
Genes
88 %
|
STAT Epilepsy Panel.
By GeneDx in United States.
SPTAN1, SCN8A, PNPO, KCNQ3, KCNQ2, FOLR1, SCN2A, SCN1B, SCN1A, SLC2A1, PCDH19, MEF2C, CDKL5, ARX, ALDH7A1, STXBP1, MECP2, POLG
Specificity
28 %
Genes
63 %
|
Infantile Epilepsy Panel.
By GeneDx in United States.
ZEB2, ATP6AP2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, KANSL1, MAGI2, MFSD8, PRRT2, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, PNPO, KCNQ3 , (...)
View the complete list with 33 more genes
ZEB2, ATP6AP2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, NRXN1, SCN8A, KANSL1, MAGI2, MFSD8, PRRT2, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, PNPO, KCNQ3, KCNQ2, GRIN2B, FOLR1, SCN2A, SCN1B, KCTD7, SCN1A, CLN5, PPT1, CLN8, CLN6, TSC1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, ARX, CLN3, TPP1, ALDH7A1, SLC9A6, SLC25A22, CTSD, STXBP1, GAMT, LIAS, MECP2, POLG, ADSL, UBE3A
Specificity
14 %
Genes
88 %
|
Childhood-Onset Epilepsy Panel.
By GeneDx in United States.
ZEB2, SYN1, CNTNAP2, TCF4, PNKP, NRXN1, KANSL1, MAGI2, MFSD8, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, FOLR1, SCN2A, SCN1B , (...)
View the complete list with 30 more genes
ZEB2, SYN1, CNTNAP2, TCF4, PNKP, NRXN1, KANSL1, MAGI2, MFSD8, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, FOLR1, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, CACNB4, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, SLC2A1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, CLN3, TPP1, SLC9A6, CTSD, GATM, GAMT, MECP2, POLG, ADSL, UBE3A
Specificity
12 %
Genes
75 %
|
Autism/Intellectual Disability/Multiple Anomalies.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.
ERCC8, RPGRIP1L, AVPR1A, BDNF, SLC6A4, ERCC6, SPRED1, RPS6KA3, NLGN3, NLGN4X, HOXA1, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, SHANK2, SHANK3 , (...)
View the complete list with 69 more genes
ERCC8, RPGRIP1L, AVPR1A, BDNF, SLC6A4, ERCC6, SPRED1, RPS6KA3, NLGN3, NLGN4X, HOXA1, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, SHANK2, SHANK3, VPS13B, ZEB2, RAB39B, CASK, OPHN1, KDM5C, PHF6, FGD1, ATRX, CNTNAP2, TCF4, PNKP, NRXN1, KMT2D, PAFAH1B1, RELN, PQBP1, DCX, MBD5, FOLR1, GABRB3, ASPM, L1CAM, FGFR1, NF1, SCN1A, MET, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, CBL, RAD21, TSC2, MAP2K2, HDAC8, FGFR2, SOS1, SLC2A1, SHOC2, RAI1, PTPN11, PCDH19, NRAS, MEF2C, MAP2K1, KRAS, HRAS, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, FGFR3, SLC9A6, TUBA1A, MECP2, RAF1, MKKS, NHS, HPRT1, PTEN, UBE3A, FMR1
Specificity
3 %
Genes
25 %
|
CustomNext: Neuro.
By Ambry Genetics in United States.
KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3 , (...)
View the complete list with 176 more genes
KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3, RPL10, RPS6KA3, FTSJ1, GDI1, ZC4H2, UPF3B, UBE2A, DLG3, LAMP2, HUWE1, PHF8, NLGN3, NLGN4X, ARID1B, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, ADNP, PTCHD1, SHANK3, VPS13B, ZEB2, RAB39B, CUL4B, CASK, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, ANKRD11, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, SLC13A5, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, ATP13A2, MFSD8, DNAJC5, CTSF, FLNA, PQBP1, DCX, PRRT2, DEPDC5, TBC1D24, ALG13, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, CHRNB2, ATP1A2, DYNC1H1, KIF1A, L1CAM, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, GPC3, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, RAD21, TSC2, HDAC8, SLC2A1, RAI1, PTPN11, PORCN, PLP1, PCDH19, MEF2C, IDS, FOXG1, DHCR7, CREBBP, CHD7, CDKL5, ARX, SLC6A8, CLN3, TPP1, NDUFA1, ALDH7A1, ABCD1, SLC9A6, ACSL4, MAOA, TIMM8A, PDHA1, OTC, GRN, SLC25A22, CTSD, TUSC3, STXBP1, GATM, GAMT, MECP2, POLG, NHS, HPRT1, NDP, OCRL, ATP7A, PTEN, UBE3A, FMR1
Specificity
4 %
Genes
88 %
|
Neurodevelopment-Expanded.
By Ambry Genetics in United States.
KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3 , (...)
View the complete list with 176 more genes
KAT6A, DDX3X, POGZ, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, KATNAL2, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3, RPL10, RPS6KA3, FTSJ1, GDI1, ZC4H2, UPF3B, UBE2A, DLG3, LAMP2, HUWE1, PHF8, NLGN3, NLGN4X, ARID1B, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, ADNP, PTCHD1, SHANK3, VPS13B, ZEB2, RAB39B, CUL4B, CASK, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, ANKRD11, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, SLC13A5, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, ATP13A2, MFSD8, DNAJC5, CTSF, FLNA, PQBP1, DCX, PRRT2, DEPDC5, TBC1D24, ALG13, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, CHRNB2, ATP1A2, DYNC1H1, KIF1A, L1CAM, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, GPC3, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, RAD21, TSC2, HDAC8, SLC2A1, RAI1, PTPN11, PORCN, PLP1, PCDH19, MEF2C, IDS, FOXG1, DHCR7, CREBBP, CHD7, CDKL5, ARX, SLC6A8, CLN3, TPP1, NDUFA1, ALDH7A1, ABCD1, SLC9A6, ACSL4, MAOA, TIMM8A, PDHA1, OTC, GRN, SLC25A22, CTSD, TUSC3, STXBP1, GATM, GAMT, MECP2, POLG, NHS, HPRT1, NDP, OCRL, ATP7A, PTEN, UBE3A, FMR1
Specificity
4 %
Genes
88 %
|
EpiFirst-Fever.
By Ambry Genetics in United States.
SCN8A, PRRT2, GABRG2, GABRA1, CHD2, HCN1, STX1B, SCN2A, SCN1B, GABRB3, SCN1A, PCDH19, STXBP1
Specificity
54 %
Genes
88 %
|
EpiFirst-Focal.
By Ambry Genetics in United States.
PRRT2, DEPDC5, GRIN2A, CHRNA4, CHRNA2, KCNT1, SCN1B, LGI1, CRH, CHRNB2, SCN1A
Specificity
19 %
Genes
25 %
|
EpilepsyNext.
By Ambry Genetics in United States.
ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2 , (...)
View the complete list with 80 more genes
ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, SLC13A5, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, ATP13A2, MFSD8, DNAJC5, CTSF, FLNA, DCX, PRRT2, DEPDC5, TBC1D24, SCARB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, CHRNB2, ATP1A2, DYNC1H1, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, SMC1A, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, CLN3, TPP1, ALDH7A1, SLC9A6, GRN, SLC25A22, CTSD, STXBP1, GATM, GAMT, MECP2, POLG, UBE3A
Specificity
8 %
Genes
88 %
|
EpiRapid.
By Ambry Genetics in United States.
SCN8A, PRRT2, PNPO, KCNQ3, KCNQ2, KCNT1, FOLR1, SCN1A, TSC1, TSC2, SLC2A1, PCDH19, ALDH7A1, STXBP1, MECP2, POLG
Specificity
19 %
Genes
38 %
|
EpiRapid reflex EpilepsyNext.
By Ambry Genetics in United States.
ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2 , (...)
View the complete list with 80 more genes
ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, SLC13A5, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, ATP13A2, MFSD8, DNAJC5, CTSF, FLNA, DCX, PRRT2, DEPDC5, TBC1D24, SCARB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, CHRNB2, ATP1A2, DYNC1H1, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, SMC1A, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, CLN3, TPP1, ALDH7A1, SLC9A6, GRN, SLC25A22, CTSD, STXBP1, GATM, GAMT, MECP2, POLG, UBE3A
Specificity
8 %
Genes
88 %
|
Familial Hemiplegic Migraine Panel.
By Ambry Genetics in United States.
PRRT2, ATP1A2, CACNA1A, SCN1A
Specificity
25 %
Genes
13 %
|
SCN1A, ARX, CDKL5, SLC2A1, STXBP1, SCN2A, KCNQ2, CHRNA4, CHRNB2, CHRNA2, PCDH19, KCNQ3. NextGeneDx.Complete sequencing by NGS.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
CHRNA4, CHRNA2, KCNQ3, KCNQ2, SCN2A, CHRNB2, SCN1A, SLC2A1, PCDH19, CDKL5, ARX, STXBP1
Specificity
34 %
Genes
50 %
|
SCN1A. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
SCN1A
Specificity
100 %
Genes
13 %
|
SCN1A. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
SCN1A
Specificity
100 %
Genes
13 %
|
SCN1A, SCN1B, GABRG2, GABRD, SCN9A. NextGeneDx.Complete sequencing by NGS.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
GABRG2, GABRD, SCN1B, SCN9A, SCN1A
Specificity
80 %
Genes
50 %
|
SCN1A. MLPA testing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
SCN1A
Specificity
100 %
Genes
13 %
|
ATP1A2, CACNA1A, SCN1A. NextGeneDx.Complete sequencing by NGS.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
ATP1A2, CACNA1A, SCN1A
Specificity
34 %
Genes
13 %
|
SCN1A. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
SCN1A
Specificity
100 %
Genes
13 %
|
Rapid Epilepsy Seq Analysis.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
SCN8A, KCNB1, GRIN2A, EPM2A, PNPO, KCNQ2, GRIN2B, SCN2A, NHLRC1, SCN1A, CSTB, SLC2A1, SLC6A8, ALDH7A1, GATM, GAMT, POLG
Specificity
12 %
Genes
25 %
|
Rapid Epilepsy Seq + Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
SCN8A, KCNB1, GRIN2A, EPM2A, PNPO, KCNQ2, GRIN2B, SCN2A, NHLRC1, SCN1A, CSTB, SLC2A1, SLC6A8, ALDH7A1, GATM, GAMT, POLG
Specificity
12 %
Genes
25 %
|
CHOP Epilepsy Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
PIGT, SLC12A5, HDAC4, CNKSR2, ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, KCNJ10, PNKP, SPTAN1, PLCB1, GRIN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2 , (...)
View the complete list with 69 more genes
PIGT, SLC12A5, HDAC4, CNKSR2, ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, KCNJ10, PNKP, SPTAN1, PLCB1, GRIN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, SZT2, SLC13A5, KCNB1, PURA, DNM1, KCNA2, EEF1A2, HNRNPU, MFSD8, RELN, QARS, PIGO, PRRT2, DEPDC5, TBC1D24, ASAH1, ALG13, SCARB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, PNPO, KCNQ3, KCNQ2, GRIN2B, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, PRICKLE1, KCTD7, NHLRC1, GABRB3, LGI1, KCNA1, DYNC1H1, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, ARX, SLC6A8, WWOX, CLN3, TPP1, ALDH7A1, SLC25A22, CTSD, STXBP1, GATM, GAMT, MECP2, POLG, UBE3A
Specificity
8 %
Genes
88 %
|
Rapid Epilepsy Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
SCN8A, KCNB1, GRIN2A, EPM2A, PNPO, KCNQ2, GRIN2B, SCN2A, NHLRC1, SCN1A, CSTB, SLC2A1, SLC6A8, ALDH7A1, GATM, GAMT, POLG
Specificity
12 %
Genes
25 %
|
Familial Hemiplegic Migraine type 3 (sequence analysis of SCN1A gene).
By CGC Genetics in Portugal.
SCN1A
Specificity
100 %
Genes
13 %
|
Familial hemiplegic migraine (NGS panel for 3 genes).
By CGC Genetics in Portugal.
ATP1A2, CACNA1A, SCN1A
Specificity
34 %
Genes
13 %
|
Myoclonic epilepsy of infancy, severe (Dravet syndrome, sequence analysis of SCN1A gene).
By CGC Genetics in Portugal.
SCN1A
Specificity
100 %
Genes
13 %
|
Epilepsy, generalized with febrile seizures plus type 2 (deletion/duplication analysis of SCN1A gene).
By CGC Genetics in Portugal.
SCN1A
Specificity
100 %
Genes
13 %
|
Early infantile epileptic encephalopathy (NGS panel for 26 genes).
By CGC Genetics in Portugal.
ARHGEF9, PNKP, SPTAN1, PLCB1, SCN8A, ST3GAL3, GNAO1, SZT2, DOCK7, SLC13A5, KCNB1, DNM1, TBC1D24, GABRA1, KCNQ2, KCNT1, HCN1, GRIN2B, SCN2A, SCN1A , (...)
View the complete list with 6 more genes
ARHGEF9, PNKP, SPTAN1, PLCB1, SCN8A, ST3GAL3, GNAO1, SZT2, DOCK7, SLC13A5, KCNB1, DNM1, TBC1D24, GABRA1, KCNQ2, KCNT1, HCN1, GRIN2B, SCN2A, SCN1A, PCDH19, CDKL5, ARX, WWOX, SLC25A22, STXBP1
Specificity
20 %
Genes
63 %
|
Epileptic encephalopathy (NGS panel for 67 genes).
By CGC Genetics in Portugal.
SRGAP2, MAPK10, ACY1, TBCE, TREX1, ZEB2, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, GRIN1, NRXN1, SCN8A , (...)
View the complete list with 47 more genes
SRGAP2, MAPK10, ACY1, TBCE, TREX1, ZEB2, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, GRIN1, NRXN1, SCN8A, ROGDI, ST3GAL3, GNAO1, SZT2, DOCK7, SLC13A5, KCNB1, DNM1, MAGI2, PRRT2, TBC1D24, MBD5, GRIN2A, GABRG2, GABRA1, CHD2, PNPO, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SCN2A, SCN1B, SLC19A3, SCN9A, SCN1A, SYNGAP1, SLC2A1, PCDH19, FOXG1, CDKL5, ARX, WWOX, ALDH7A1, SLC9A6, AMT, GLDC, GCSH, SLC25A22, STXBP1, GAMT, MECP2, CPT2, ADSL, UBE3A, MTHFR
Specificity
12 %
Genes
100 %
|
Hemiplegic familial migraine (deletion/duplication analysis of SCN1A gene).
By CGC Genetics in Portugal.
SCN1A
Specificity
100 %
Genes
13 %
|
Generalized epilepsy with febrile seizures plus type 2 (GEFS+, sequence analysis of SCN1A gene).
By CGC Genetics in Portugal.
SCN1A
Specificity
100 %
Genes
13 %
|
Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
TNK2, NPRL2, ACY1, ARHGEF9, CNTNAP2, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ROGDI, ST3GAL3, GNAO1, SZT2, SLC13A5, KCNB1, KCNA2, MFSD8, CTSF , (...)
View the complete list with 62 more genes
TNK2, NPRL2, ACY1, ARHGEF9, CNTNAP2, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ROGDI, ST3GAL3, GNAO1, SZT2, SLC13A5, KCNB1, KCNA2, MFSD8, CTSF, RELN, ARFGEF2, BCKDK, PIGO, PRRT2, DEPDC5, TBC1D24, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, FOLR1, SLC35A2, STX1B, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CHRNB2, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, FARS2, WWOX, CLN3, TPP1, ALDH7A1, SLC9A6, SLC25A22, CTSD, STXBP1, GAMT, MECP2, POLG, ADSL
Specificity
10 %
Genes
100 %
|
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
CARS2, KCNH1, SLC1A2, PLPBP, SON, RORB, HCN2, GRIN2D, FRRS1L, CAD, NACC1, TNK2, NPRL2, NPRL3, SCN10A, PIGG, ACY1, GNB1, TUBG1, IER3IP1 , (...)
View the complete list with 133 more genes
CARS2, KCNH1, SLC1A2, PLPBP, SON, RORB, HCN2, GRIN2D, FRRS1L, CAD, NACC1, TNK2, NPRL2, NPRL3, SCN10A, PIGG, ACY1, GNB1, TUBG1, IER3IP1, SMARCA2, AARS, TUBB2A, MTOR, NEDD4L, CLCN2, NECAP1, GFAP, ZEB2, CASK, ATP6AP2, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, PIGV, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, DNM1, KCNA2, EEF1A2, SPATA5, HNRNPU, MFSD8, CTSF, TUBB2B, SRPX2, TUBA8, RELN, QARS, DCX, ARFGEF2, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ALG13, SCARB2, KCNMA1, MBD5, LMNB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, CACNB4, CACNA1A, SCN1A, CSTB, CLN5, SLC17A5, PPT1, CLN8, CLN6, TSC1, SMC1A, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, FARS2, WWOX, CLN3, TPP1, ALDH7A1, SLC9A6, SLC25A22, CTSD, TUBA1A, STXBP1, GAMT, MECP2, POLG, TUBB3, ADSL, UBE3A
Specificity
6 %
Genes
100 %
|
Dravet Syndrome and Generalized Epilepsy with Febrile Seizures Plus via the SCN1A Gene.
By PreventionGenetics PreventionGenetics in United States.
SCN1A
Specificity
100 %
Genes
13 %
|
Familial Hemiplegic Migraine Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
PRRT2, ATP1A2, CACNA1A, SCN1A
Specificity
25 %
Genes
13 %
|
Autism Spectrum Disorders Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
MBD6, WDFY3, DGAT2L6, CDC42BPB, SYN2, STXBP5, KAT2B, TNRC6B, TCF20, KMT5B, MYO9B, CSMD1, NAA15, DSCAM, DISC1, EFR3A, CTTNBP2, CNTN6, CTNND2, ASH1L , (...)
View the complete list with 87 more genes
MBD6, WDFY3, DGAT2L6, CDC42BPB, SYN2, STXBP5, KAT2B, TNRC6B, TCF20, KMT5B, MYO9B, CSMD1, NAA15, DSCAM, DISC1, EFR3A, CTTNBP2, CNTN6, CTNND2, ASH1L, ABCA7, MYT1L, MED13L, BCL11A, CACNA2D3, POGZ, CUL3, ASXL3, CC2D1A, C12orf57, ZNF407, SETD5, ZMYND11, GRIP1, TBC1D20, PACS1, AUTS2, KATNAL2, KMT2A, MAGEL2, ANK2, NFIX, UPF3B, NLGN3, NLGN4X, ARID1B, TBR1, HOXA1, CHD8, CACNA1C, EHMT1, FOXP1, ADNP, PTCHD1, SHANK2, SHANK3, VPS13B, RAB39B, CNTNAP2, TCF4, ANKRD11, DYRK1A, NRXN1, NEXMIF, RELN, PQBP1, DEAF1, BCKDK, MBD5, CHD2, KCNQ3, HCN1, GRIN2B, FOLR1, SLC6A1, SCN2A, GABRB3, SPAST, SCN1A, POMGNT1, SMAD4, NSD1, TSC1, RAD21, TSC2, RAI1, PCDH19, KRAS, FOXG1, DHCR7, CHD7, CDKL5, BRAF, ARX, SGSH, SLC9A6, MAOA, STXBP1, GATM, GAMT, MECP2, NDP, MFRP, ADSL, PTEN, UBE3A, FMR1
Specificity
4 %
Genes
50 %
|
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
DENND5A, RBFOX3, HECW2, GUF1, KPNA7, STRADA, RAB11A, NUS1, ITPA, CNTN2, SNX27, ARHGEF15, PPP3CA, PIK3AP1, JMJD1C, AP3B2, FASN, YWHAG, KCND2, RYR3 , (...)
View the complete list with 202 more genes
DENND5A, RBFOX3, HECW2, GUF1, KPNA7, STRADA, RAB11A, NUS1, ITPA, CNTN2, SNX27, ARHGEF15, PPP3CA, PIK3AP1, JMJD1C, AP3B2, FASN, YWHAG, KCND2, RYR3, PIGP, PPP2R1A, PIGQ, GABRB1, GABBR2, GAL, CLTC, CARS2, KCNH1, PLPBP, RORB, HCN2, GRIN2D, FRRS1L, CAD, NPRL2, NPRL3, NGLY1, GPHN, SLC12A5, GLRA1, DDX3X, CERS1, PIGG, PRDM8, COQ4, FGF12, ARV1, HIVEP2, UBA5, MDH2, KCNH5, C12orf57, NTRK2, PACS1, RANBP2, TPK1, IER3IP1, SATB2, DNMT3A, NAGA, MTOR, NEDD4L, NECAP1, CLCN4, ZDHHC9, ARID1B, EHMT1, DIAPH1, ZEB2, CASK, ATP6AP2, SYN1, ARHGEF9, IQSEC2, ATRX, SERPINI1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, ANKRD11, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, SETD2, HNRNPU, CACNA2D2, RBFOX1, MFSD8, DNAJC5, SRPX2, FLNA, RELN, QARS, COL4A1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ALG13, SCN5A, SCARB2, KCNMA1, MBD5, LMNB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCNH2, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, CACNB4, KCNA1, CASR, SGCE, NF1, CACNA1A, SCN1A, CSTB, CLN5, SLC35A3, PPT1, CLN8, CLN6, TSC1, SMC1A, SYNGAP1, CBL, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC6A8, FARS2, PNKD, WWOX, CLN3, TPP1, ALDH7A1, ALDH5A1, SLC9A6, AMT, GLDC, GCSH, SLC25A22, CTSD, STXBP1, GATM, GAMT, SLC25A12, ABAT, DHDDS, LIAS, MECP2, POLG, ADSL, PTEN, UBE3A
Specificity
4 %
Genes
100 %
|
Mental retardation - different panels.
By Institute of Human Genetics Cologne University in Germany.
EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A , (...)
View the complete list with 847 more genes
EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A, WAC, CNKSR1, HIST3H3, ASCC3, GPT2, TMEM135, RABL6, SLC25A16, HIKESHI, ZCCHC8, INPP4A, GEMIN4, FRMD4A, CASP2, CKAP2L, PECR, PGAP3, MEIS2, KDM6B, CCNA2, KRBOX4, ADRA2B, SCAPER, SLC39A6, GON4L, HIST1H4B, HNRNPK, APC2, GTF2E2, RSPRY1, SFXN4, RMND1, ITPA, SNX27, FASN, PPP2R1A, GABBR2, TCF20, TRIP12, DCPS, MYT1L, MED13L, TRIO, ELP2, ISCA2, JAM3, KDM1A, DDX59, DARS, USP27X, KLHL15, RLIM, KCNH1, CAD, NECTIN1, UPB1, UNC80, SC5D, FAR1, MFF, RNF113A, SMOC1, MAB21L2, HMGB3, CLP1, FTO, ERCC1, TMCO1, STT3A, STT3B, AIMP1, UBE3B, SSR4, GPHN, RBM28, PIGT, SLC12A5, HDAC4, COLEC11, IGF1, KAT6A, DDX3X, POGZ, PEX11B, COL4A2, DHFR, FAM126A, PEPD, CA5A, GTF2H5, MPLKIP, AP1S1, BUB1B, ZSWIM6, PIGG, CHAMP1, WDR73, SNX14, APOPT1, PET100, POLR3B, POLR3A, WDR81, XPA, PMPCA, COQ4, ERCC5, SCYL1, PTRH2, LAMA1, COL18A1, CACNA1G, ACY1, BCAP31, KMT2B, CLPB, SERAC1, SLC1A4, PPP1R15B, TBCE, TUBGCP6, ASXL3, TUBGCP4, PYCR2, POC1A, LARP7, PLK4, GMNN, ORC1, TCF12, MEGF8, DPH1, CA8, CC2D1A, ANK3, CTCF, GATAD2B, ADAT3, CRADD, FBXO31, FMN2, KIF4A, METTL23, MID2, NDST1, SETD5, SLC6A17, TAF2, TTI2, ZMYND11, CEP63, CEP135, CDK6, CENPE, MFSD2A, MED17, SLC25A1, LAMB1, MPDZ, CCDC88C, PTDSS1, PDE4D, SNAP29, ASNS, KIF2A, KIF5C, TUBG1, KATNB1, CDK5, FRAS1, DNMT3B, ESCO2, RTTN, TBC1D20, CEP83, ZNF423, ZBTB20, TRMT10A, HEPACAM, TBC1D7, RNF125, KPTN, CSPP1, PDE6D, CEP104, KIAA0556, SRCAP, AFF4, PRMT7, IFT172, AGPAT2, KCNJ6, OCLN, UBR1, MICU1, TCTN3, PGM3, PACS1, PIK3R1, EPG5, PRKRA, GSS, TPI1, LIG4, ERCC8, AKT3, PIK3R2, B3GLCT, RARB, STIM1, RAB27A, MYO5A, DHCR24, EIF2AK3, SLC6A3, DDC, EARS2, MAT1A, TMEM165, COG5, COG6, ALG11, COG4, MT-TV, COX10, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ERCC4, MASP1, AUTS2, KATNAL2, SATB2, SOX5, FANCD2, WNT1, GNAS, GNPAT, ASXL1, EFTUD2, RNASET2, EP300, THRB, DPP6, MT-CO3, MT-CO1, MT-ND5, MT-CO2, PGK1, CTDP1, KIF11, PRMT9, PPP2R5D, EXOSC2, FRY, RGS7, COL4A3BP, ADK, CCDC115, WDR45B, DIP2B, STAMBP, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, NT5C2, ENTPD1, PGAP1, IFIH1, MAG, HACE1, SMARCA2, ARID1A, SMARCB1, RRAS, RASA2, NSUN2, SPRED1, THOC2, CNKSR2, CCDC22, CLCN4, FRMPD4, EIF2S3, LAS1L, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZC4H2, USP9X, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, HCFC1, HUWE1, PHF8, CCBE1, NEU1, MVK, KAT6B, PEX5, PEX12, PEX10, PEX26, PEX13, KIAA0586, LZTR1, NLGN3, NLGN4X, CTNNB1, ARID1B, TMEM231, TBR1, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, LAMC3, MED12, MID1, ADNP, PTCHD1, FUCA1, NARS2, PEX6, PRPS1, MT-TS1, SOX10, DIAPH1, NLRP3, PNPT1, ERCC3, ERCC2, ATP6V1B2, ACTG1, ACTB, SALL1, SHANK2, SHANK3, ATP2A2, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, ZNF526, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, TECR, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, NR2F1, DOCK7, SLC13A5, KCNB1, PURA, SIK1, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, SETD2, CACNA2D2, KMT2D, ATP13A2, KCNT1, HCN1, GRIN2B, SLC6A1, SLC35A2, SCN2A, ST3GAL5, KCTD7, GABRB3, ATP1A3, ATP1A2, ASPM, MCPH1, B3GALNT2, LARGE1, CHKB, POMGNT2, DPM2, LAMA2, GRM1, SIL1, ANO10, ISPD, POMT1, POMT2, DAG1, TRAPPC11, VRK1, DYNC1H1, CCDC78, SPART, KIF1A, WASHC5, BSCL2, SLC33A1, L1CAM, KCNJ11, FGFR1, NF1, GCH1, ATXN10, FKRP, AHI1, SCN1A, SPG11, MT-ATP6, MT-TK, ZFYVE26, MT-TL1, NTRK1, FIG4, TMEM216, DPYD, PHGDH, CLN5, SLC17A5, SLC12A6, POMGNT1, PEX1, MCOLN1, TH, SLC35A3, PEX7, PPT1, FKTN, CLN8, CLN6, SMAD4, GPC3, PTCH1, NBN, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, WDR62, SOS1, SLC2A1, SHOC2, RMRP, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, DMPK, MEF2C, MAP2K1, KRAS, IKBKG, IDUA, IDS, HRAS, GJC2, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, BLM, ARX, ASPA, FGFR3, PNP, MGME1, HPD, MOGS, DPAGT1, DOLK, AHCY, AGA, ABCD4, SDHA, PDHX, SLC6A8, FARS2, WWOX, PPOX, HESX1, CLN3, SMARCA4, KMT2A, SMARCE1, ARID2, ERCC6, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, GMPPB, POMK, FBXL4, EMC1, NKX2-1, SLC4A4, MAF, POC1B, MED25, AARS, DHTKD1, KDM6A, MAGEL2, ABCC9, GLI3, EZH2, NFIX, DNMT3A, ACVR1, SKI, TGFBR2, TGFBR1, DYM, NAGA, ATR, PCNT, CDK5RAP2, GLI2, CDON, CEP152, NALCN, ZIC2, TGIF1, TUBB2A, EXOSC3, MTOR, NECAP1, TPP1, SOX2, ASL, APTX, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PMM2, MGAT2, LRPPRC, GALE, GALT, CBS, L2HGDH, SLC25A15, MLYCD, MAN2B1, MANBA, DBT, CYB5R3, MUT, MMAA, NDUFAF5, NDUFS2, NDUFV1, NDUFS1, NDUFA11, NDUFA1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GUSB, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, CA2, ACOX1, SLC35C1, ALDH3A2, ALDH5A1, SUOX, ABHD5, MMADHC, ABCD1, BCOR, SLC9A6, ACSL4, MAOA, AIFM1, TIMM8A, GK, PDHA1, HCCS, PUS1, D2HGDH, ALG3, STRA6, ETHE1, MPI, ALG6, GAD1, SLC35A1, SCO2, AMT, GLDC, GCSH, B4GALT1, ALG12, COQ2, GRN, ALG2, ALG8, AP3B1, ALG1, ALG9, COG7, DPM1, MPDU1, SLC25A22, CTSD, DNAJC19, HAX1, TUSC3, DARS2, COG8, COG1, TUBA1A, MRPS22, RFT1, COQ8A, STXBP1, SDHB, AK1, GATM, GAMT, PGM1, DPM3, NUBPL, TAT, CCDC28B, ACSF3, DNM1L, ALDH18A1, DDOST, NDUFA12, ACO2, PDSS1, PDSS2, MECP2, SMPD1, FH, RAF1, PANK2, NDUFS4, DLD, SHH, TRIM32, TTC8, CEP290, MKKS, NPHP1, ARL6, TMEM67, NHS, HPRT1, OTX2, NDP, ELOVL4, OCRL, HSD17B10, SRD5A3, ATP6V0A2, PRODH, CC2D2A, PYCR1, MTRR, INPP5E, MTR, PAX6, PRKCG, MMACHC, ADSL, C12orf65, MFSD8, DNAJC5, CTSF, TUBB2B, STIL, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, DEAF1, CENPJ, ARFGEF2, COL4A1, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, MBD5, GRIN2A, GABRA1, CHD2, KCNQ3, KCNQ2, BCS1L, BCKDHB, BCKDHA, B4GALT7, AUH, ATP7A, HLCS, ANKH, PC, ACAD9, MCCC2, MCCC1, PTEN, UBE3A, FMR1
Specificity
1 %
Genes
63 %
|
Familial Hemiplegic Migraine 3.
By MGZ Medical Genetics Center in Germany.
SCN1A
Specificity
100 %
Genes
13 %
|
SCN1A-Related Seizure Disorders.
By MGZ Medical Genetics Center in Germany.
SCN1A
Specificity
100 %
Genes
13 %
|
Neurogenetic Disorders - panels.
By MGZ Medical Genetics Center in Germany.
PITRM1, KLC4, PTCD1, VPS11, TXN2, STAT2, PODXL, PPT2, GTPBP2, SLC25A26, KCNA4, SLC25A42, FLRT1, CCDC115, TANGO2, LONP1, TRIT1, RMND1, VARS2, TARS2 , (...)
View the complete list with 577 more genes
PITRM1, KLC4, PTCD1, VPS11, TXN2, STAT2, PODXL, PPT2, GTPBP2, SLC25A26, KCNA4, SLC25A42, FLRT1, CCDC115, TANGO2, LONP1, TRIT1, RMND1, VARS2, TARS2, TRMT5, PARS2, MRPS7, MRPL44, NDUFB11, COQ7, IARS2, GTPBP3, COX8A, ARHGEF15, FLAD1, ISCA2, LYRM7, ARSI, USP8, WDR48, ZFR, NDUFB9, ATP2B4, CARS2, CAD, LARS, ATP5F1A, NPRL3, CACNA1B, EXOSC8, CLP1, AIMP1, UQCRC2, TALDO1, GPHN, PDE8B, SLC52A3, LMNB1, DGAT2, STUB1, SLC6A19, RNF216, RNASEH1, PTRH2, PIK3R5, NOL3, GRID2, SLC52A2, CACNA1G, ATP8A2, RARS, AAAS, ACY1, SLC30A10, ADCY5, GNAL, ECHS1, KCTD17, HPCA, ANO3, UBA5, CLPB, SERAC1, PDGFB, SLC1A4, PYCR2, SEPSECS, AMPD2, XRCC4, KCNH5, GRIK2, ARL6IP1, IBA57, ALG14, LRP4, PREPL, DNAJC3, HEPACAM, MICU1, SLC25A46, EPG5, PRKRA, RANBP2, XK, COQ8B, VPS35, EIF2AK3, ABCA1, APOB, HADH, SLC6A3, MR1, EARS2, FBXO7, TPK1, PRNP, CSF1R, SCO1, COX10, MARS2, DCAF17, COASY, CP, FTL, NBAS, GJA1, CCT5, RNASET2, ACTG2, FDX2, STAMBP, ZFYVE27, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, C19orf12, KIF1C, NT5C2, ENTPD1, PGAP1, CPT1C, MAG, REEP2, ERLIN1, MYBPC1, GMPPB, TOR1AIP1, HNRNPDL, DNA2, FBXL4, NKX2-1, TBK1, LYST, GAN, TFG, MARS, TUBB2A, EXOSC3, CLCN2, CLCN4, SLC16A2, TAF1, LAMP2, HCFC1, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, CHD8, CACNA1C, FUCA1, NARS2, PEX6, LARS2, SLC19A2, SOX10, DNMT1, NLRP3, PNPT1, POLR1C, CLPP, VPS13A, GFAP, TREX1, KDM5C, ARHGEF9, RNASEH2B, RNASEH2C, RNASEH2A, KCNJ10, SAMHD1, PNKP, TSEN54, RELN, QARS, COL4A1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, SCARB2, KCNMA1, MBD5, LMNB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GABRD, FOLR1, STX1B, SYNJ1, SCN2A, SCN1B, SLC19A3, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, CACNA1H, ATP1A3, ATP1A2, COL6A3, CHKB, DPM2, LAMA2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, ANO10, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, SLC1A3, CACNB4, KCNA1, SYNE1, BICD2, MTM1, UBQLN2, TARDBP, CHMP2B, SETX, RYR1, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, RTN2, WASHC5, BSCL2, SLC33A1, NIPA1, L1CAM, KIF5A, SPAST, CASR, SNCA, SGCE, LRRK2, GCH1, THAP1, TOR1A, CACNA1A, PPP2R2B, NOTCH3, APOE, MAPT, PSEN2, SCN1A, CSTB, SPG11, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, ATL1, DNM2, GDAP1, RAPSN, PLA2G6, PHGDH, CIZ1, SLC6A5, GLRA1, GLRB, NOP56, COL4A2, FAM126A, RETREG1, PSAT1, SNX14, APOPT1, CHCHD10, PRDM8, POLR3B, POLR3A, TRNT1, PMPCA, RUBCN, COQ4, EIF2B5, CLN5, TTPA, SUMF1, SLC17A5, PEX1, MCOLN1, MLC1, TH, SACS, PEX7, PPT1, PEX2, MTTP, DOK7, CLN8, CLN6, CHRNE, SDHD, MRE11, ATM, SYNGAP1, SLC2A1, PLP1, PCDH19, NPC2, NPC1, MEF2C, GJC2, FOXG1, EIF2B1, CDKL5, GBA, ARX, ASPA, ARSA, MGME1, DPAGT1, SDHA, PDHX, MTFMT, SLC6A8, HARS2, FARS2, TACO1, PNKD, WWOX, KIF21A, CLN3, TPP1, SLC25A38, ASL, APTX, PRKN, SLC25A20, SLC22A5, CYP27A1, ASS1, COX6B1, FASTKD2, LRPPRC, FXN, GCDH, ETFDH, ETFA, ETFB, GBE1, L2HGDH, SLC25A15, IVD, GALC, DLAT, SUCLG1, DBT, HIBCH, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, MOCS1, MOCS2, CHAT, CPT1A, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, ACOX1, ALDH7A1, PHYH, HEXB, ALDH3A2, HEXA, ABHD5, ABCD1, AIFM1, ABCB7, TAZ, TIMM8A, PDHA1, OTC, PUS1, SQSTM1, ETHE1, TYMP, GAD1, SCO2, GLDC, PINK1, PCCA, PCCB, PARK7, SPG7, COQ2, NDUFA13, GRN, ALG2, PDP1, GFM1, SLC25A22, TK2, POLG2, DNAJC19, REEP1, MRPS16, TSFM, TUFM, PNPLA2, SLC25A3, DARS2, RARS2, MRPS22, COQ8A, SUCLA2, STXBP1, SDHB, COX4I2, SPR, SPTAN1, PLCB1, DYRK1A, SCN8A, WDR45, DOCK7, SLC13A5, SNAP25, SIK1, EEF1A2, SPATA5, HNRNPU, ATP13A2, GAMT, SLC25A12, TMEM126A, GFER, KARS, NUBPL, NDUFA10, MTPAP, TTC19, NDUFAF1, NFU1, SARS2, TMEM70, PDHB, BOLA3, DGUOK, ALDH18A1, AGK, COX14, NDUFA9, NDUFB3, NDUFA12, COQ6, PDSS1, PDSS2, COQ9, MTO1, MECP2, VCP, OPA3, PANK2, SDHC, MFN2, ALAS2, NDUFAF2, RRM2B, FOXRED1, AFG3L2, GARS, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, ELOVL4, PSAP, WFS1, TRMU, OPA1, CPT2, CPS1, HSD17B4, AMACR, SDHAF2, TUBB3, PSEN1, APP, PRKCG, MMACHC, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATPAF2, ATP7B, ATP5F1E, UQCRB, ARG1, UQCRQ, PC, YARS2, ACADVL, AGL, ACADS, ACADM, ACAD9, ABHD12, AARS2, UBE3A, TTR, MTHFR
Specificity
2 %
Genes
88 %
|
Panel on demand.
By MGZ Medical Genetics Center in Germany.
SCN1A
Specificity
100 %
Genes
13 %
|
Epileptic Encephalopathy.
By MGZ Medical Genetics Center in Germany.
PPT2, ARHGEF15, CLP1, GPHN, KCNH5, IBA57, HADH, DCAF17, CP, FTL, C19orf12, HNRNPDL, TUBB2A, CLCN4, NEU1, GFAP, ARHGEF9, PNKP, SPTAN1, PLCB1 , (...)
View the complete list with 69 more genes
PPT2, ARHGEF15, CLP1, GPHN, KCNH5, IBA57, HADH, DCAF17, CP, FTL, C19orf12, HNRNPDL, TUBB2A, CLCN4, NEU1, GFAP, ARHGEF9, PNKP, SPTAN1, PLCB1, SCN8A, WDR45, DOCK7, EEF1A2, HNRNPU, ATP13A2, QARS, PRRT2, TBC1D24, ASAH1, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GABRD, FOLR1, STX1B, SYNJ1, SCN2A, SCN1B, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, EFHC1, DPM2, SYNE1, FA2H, SGCE, SCN1A, CSTB, PLA2G6, PHGDH, CLN5, PPT1, CLN6, SYNGAP1, SLC2A1, PCDH19, NPC2, NPC1, MEF2C, FOXG1, CDKL5, ARX, CLN3, TPP1, ALDH7A1, HEXB, HEXA, GLDC, SLC25A22, STXBP1, GAMT, MECP2, PANK2, POLG, AMACR, UBE3A
Specificity
8 %
Genes
88 %
|
Epileptic Encephalopathy – Basic Diagnostics.
By MGZ Medical Genetics Center in Germany.
GABRA1, PNPO, KCNC1, KCNQ2, KCNT1, HCN1, FOLR1, SCN2A, SCN1A, PHGDH, PPT1, SYNGAP1, SLC2A1, PCDH19, FOXG1, CDKL5, ARX, ALDH7A1, STXBP1, GAMT , (...)
View the complete list with 2 more genes
GABRA1, PNPO, KCNC1, KCNQ2, KCNT1, HCN1, FOLR1, SCN2A, SCN1A, PHGDH, PPT1, SYNGAP1, SLC2A1, PCDH19, FOXG1, CDKL5, ARX, ALDH7A1, STXBP1, GAMT, MECP2, POLG
Specificity
23 %
Genes
63 %
|
Epilepsy and Mitochondrial Encephalopathy.
By MGZ Medical Genetics Center in Germany.
PTCD1, PPT2, RMND1, VARS2, TARS2, ARHGEF15, FLAD1, LYRM7, NDUFB9, CLP1, UQCRC2, GPHN, SERAC1, KCNH5, IBA57, MICU1, EIF2AK3, HADH, EARS2, TPK1 , (...)
View the complete list with 166 more genes
PTCD1, PPT2, RMND1, VARS2, TARS2, ARHGEF15, FLAD1, LYRM7, NDUFB9, CLP1, UQCRC2, GPHN, SERAC1, KCNH5, IBA57, MICU1, EIF2AK3, HADH, EARS2, TPK1, SCO1, MARS2, DCAF17, CP, C19orf12, HNRNPDL, FBXL4, TUBB2A, CLCN4, NEU1, SLC19A2, PNPT1, GFAP, ARHGEF9, PNKP, SPTAN1, PLCB1, SCN8A, WDR45, DOCK7, EEF1A2, HNRNPU, QARS, PRRT2, TBC1D24, ASAH1, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GABRD, FOLR1, SYNJ1, SCN2A, SCN1B, SLC19A3, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, EFHC1, DPM2, SYNE1, FA2H, SLC33A1, SGCE, SCN1A, CSTB, PHGDH, CLN5, PPT1, CLN6, SDHD, SYNGAP1, SLC2A1, PCDH19, NPC2, NPC1, MEF2C, FOXG1, CDKL5, ARX, DPAGT1, SDHA, PDHX, MTFMT, SLC6A8, FARS2, TACO1, CLN3, TPP1, SLC25A20, FASTKD2, LRPPRC, ETFDH, ETFA, ETFB, SUCLG1, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA1, NDUFAF3, SDHAF1, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, NDUFA2, MPV17, ALDH7A1, HEXB, HEXA, TAZ, TIMM8A, PDHA1, PUS1, ETHE1, TYMP, TRIT1, SCO2, GLDC, SPG7, PDP1, GFM1, SLC25A22, TK2, MRPS16, TSFM, TUFM, SLC25A3, RARS2, MRPS22, SUCLA2, STXBP1, SDHB, GAMT, SLC25A12, GFER, NUBPL, MTPAP, TTC19, NFU1, SARS2, TMEM70, PDHB, NDUFA9, NDUFB3, NDUFA12, PDSS1, PDSS2, MTO1, MECP2, PANK2, SDHC, NDUFAF2, RRM2B, FOXRED1, SLC25A4, SLC25A19, NDUFS4, POLG, WFS1, TRMU, OPA1, SDHAF2, UQCRB, UQCRQ, PC, YARS2, UBE3A
Specificity
4 %
Genes
88 %
|
Brain Malformations / Neuronal Migration Disorders.
By MGZ Medical Genetics Center in Germany.
NXF5, HERC2, ARHGEF15, JAM3, DARS, CLP1, DIS3L2, COL4A2, POLR3B, POLR3A, ITM2B, STUB1, NOL3, SEPSECS, KCNH5, ZNF674, KIF2A, KIF5C, TUBB, TUBG1 , (...)
View the complete list with 246 more genes
NXF5, HERC2, ARHGEF15, JAM3, DARS, CLP1, DIS3L2, COL4A2, POLR3B, POLR3A, ITM2B, STUB1, NOL3, SEPSECS, KCNH5, ZNF674, KIF2A, KIF5C, TUBB, TUBG1, CCND2, HEPACAM, TBC1D7, KPTN, OCLN, ADA2, TDGF1, XK, AKT1, AKT3, PIK3R2, GNAQ, DISP1, PIK3CA, EOMES, KIF7, DCAF17, CP, FTL, PGK1, ADAR, TUBB4A, C19orf12, SMARCA2, ARID1A, SMARCB1, SMARCA4, SMARCE1, MYBPC1, HNRNPDL, KDM6A, GPSM2, GLI3, RNF135, EZH2, NFIX, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, CEP152, TUBB2A, EXOSC3, THOC2, CLCN4, ZMYM3, EIF2S3, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, MBTPS2, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, NEU1, NLGN3, NLGN4X, ARID1B, CHD8, AP1S2, EHMT1, MED12, MID1, PTCHD1, HTRA1, VPS13A, TREX1, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, DYRK1A, NRXN1, SCN8A, WDR45, NEXMIF, EEF1A2, SETD2, ATP13A2, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, PQBP1, NDE1, QARS, DCX, CENPJ, ARFGEF2, COL4A1, PRRT2, DEPDC5, TBC1D24, ASAH1, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, GABRD, SYNJ1, SCN2A, SCN1B, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, CACNA1H, ASPM, CACNB4, FA2H, L1CAM, CASR, FGF8, SGCE, NOTCH3, SCN1A, CSTB, EIF2B3, PLA2G6, PHGDH, EIF2B5, CLN5, MLC1, PPT1, DOK7, CLN6, GPC3, CDKN1C, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, RAD21, TSC2, HDAC8, WDR62, SLC2A1, PORCN, PCDH19, MEF2C, IDS, FOXG1, CHD7, CDKL5, ELP1, ARX, ASPA, FGFR3, CLN3, TPP1, CYP27A1, GALC, SGSH, HGSNAT, ALDH7A1, SLC9A6, ACSL4, MAOA, GK, GLDC, SLC25A22, TUBA1A, STXBP1, GAMT, MECP2, FH, PANK2, HPRT1, HSD17B10, TUBB3, APP, PTEN, UBE3A, FMR1
Specificity
3 %
Genes
88 %
|
Febrile Seizures.
By MGZ Medical Genetics Center in Germany.
GABRA1, HCN1, GABRD, STX1B, SCN2A, SCN1B, SCN1A, PCDH19
Specificity
63 %
Genes
63 %
|
Familial Hemiplegic Migraine.
By MGZ Medical Genetics Center in Germany.
ATP1A3, ATP1A2, CACNA1A, SCN1A, SLC2A1
Specificity
20 %
Genes
13 %
|
Epilepsy.
By MGZ Medical Genetics Center in Germany.
PTCD1, PPT2, TRIT1, RMND1, VARS2, TARS2, ARHGEF15, FLAD1, LYRM7, NDUFB9, CLP1, UQCRC2, GPHN, FAM126A, POLR3B, POLR3A, NOL3, SERAC1, KCNH5, IBA57 , (...)
View the complete list with 192 more genes
PTCD1, PPT2, TRIT1, RMND1, VARS2, TARS2, ARHGEF15, FLAD1, LYRM7, NDUFB9, CLP1, UQCRC2, GPHN, FAM126A, POLR3B, POLR3A, NOL3, SERAC1, KCNH5, IBA57, MICU1, EIF2AK3, HADH, EARS2, TPK1, SCO1, MARS2, DCAF17, CP, FTL, TUBB4A, C19orf12, MYBPC1, GMPPB, HNRNPDL, FBXL4, TUBB2A, CLCN4, NEU1, CHD8, SLC19A2, PNPT1, GFAP, ARHGEF9, PNKP, SPTAN1, PLCB1, DYRK1A, SCN8A, WDR45, DOCK7, EEF1A2, HNRNPU, ATP13A2, QARS, PRRT2, DEPDC5, TBC1D24, ASAH1, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GABRD, FOLR1, STX1B, SYNJ1, SCN2A, SCN1B, SLC19A3, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, CACNA1H, ATP1A2, DPM2, CACNB4, SYNE1, FA2H, SLC33A1, CASR, SGCE, CACNA1A, SCN1A, CSTB, EIF2B3, PLA2G6, PHGDH, CLN5, PPT1, CLN6, SDHD, SYNGAP1, SLC2A1, PLP1, PCDH19, NPC2, NPC1, MEF2C, FOXG1, CDKL5, ARX, DPAGT1, SDHA, PDHX, MTFMT, SLC6A8, FARS2, TACO1, CLN3, TPP1, SLC25A20, FASTKD2, LRPPRC, ETFDH, ETFA, ETFB, SUCLG1, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA1, NDUFAF3, SDHAF1, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, NDUFA2, MPV17, ALDH7A1, HEXB, HEXA, TAZ, TIMM8A, PDHA1, PUS1, ETHE1, TYMP, SCO2, GLDC, SPG7, PDP1, GFM1, SLC25A22, TK2, MRPS16, TSFM, TUFM, SLC25A3, RARS2, MRPS22, SUCLA2, STXBP1, SDHB, GAMT, SLC25A12, GFER, NUBPL, MTPAP, TTC19, NFU1, SARS2, TMEM70, PDHB, NDUFA9, NDUFB3, NDUFA12, PDSS1, PDSS2, MTO1, MECP2, PANK2, SDHC, NDUFAF2, RRM2B, FOXRED1, SLC25A4, SLC25A19, NDUFS4, POLG, WFS1, TRMU, OPA1, AMACR, SDHAF2, UQCRB, UQCRQ, PC, YARS2, UBE3A
Specificity
4 %
Genes
88 %
|
SCN1A-Related Seizure Disorders.
By Bioscientia GmbH Center for Human Genetics in Germany.
SCN1A
Specificity
100 %
Genes
13 %
|
SCN1A.
By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.
SCN1A
Specificity
100 %
Genes
13 %
|
Epileptic encephalopathy panel.
By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.
SRGAP2, MAPK10, TBCE, ZEB2, ARHGEF9, PNKP, SPTAN1, PLCB1, SCN8A, MAGI2, GRIN2A, PNPO, KCNQ2, KCNT1, GRIN2B, SCN2A, SCN1B, SLC19A3, SCN9A, SCN1A , (...)
View the complete list with 12 more genes
SRGAP2, MAPK10, TBCE, ZEB2, ARHGEF9, PNKP, SPTAN1, PLCB1, SCN8A, MAGI2, GRIN2A, PNPO, KCNQ2, KCNT1, GRIN2B, SCN2A, SCN1B, SLC19A3, SCN9A, SCN1A, SYNGAP1, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, ALDH7A1, SLC25A22, STXBP1, MECP2, UBE3A
Specificity
19 %
Genes
75 %
|
Febrile seizures / genetic epilepsy with febrile seizures plus (GEFS+) panel.
By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.
CLCN2, TBC1D24, GABRG2, GABRD, SCN2A, SCN1B, SCN9A, SCN1A, PCDH19, ADGRV1
Specificity
60 %
Genes
75 %
|
Inflammatory epilepsy panel.
By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.
RANBP2, SCN1A
Specificity
50 %
Genes
13 %
|
Generalized epilepsy with febrile seizures plus type 2.
By Centogene AG - the Rare Disease Company in Germany.
SCN1A
Specificity
100 %
Genes
13 %
|
Early infantile epileptic encephalopathy type 6.
By Centogene AG - the Rare Disease Company in Germany.
SCN1A
Specificity
100 %
Genes
13 %
|
Duane Retraction syndrome.
By Centogene AG - the Rare Disease Company in Germany.
SCN1A
Specificity
100 %
Genes
13 %
|
Familial hemiplegic migraine type 3.
By Centogene AG - the Rare Disease Company in Germany.
SCN1A
Specificity
100 %
Genes
13 %
|
AllNeuro panel.
By Centogene AG - the Rare Disease Company in Germany.
FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1 , (...)
View the complete list with 1185 more genes
FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1, TNFSF4, RABGGTA, CDK11A, CNTNAP4, CR1, CD207, ACKR1, JRK, CD59, FZD9, DNAH9, VDAC1, NRG1, ELK1, NXF5, FLRT1, ADK, KCNK9, HERC2, WAC, ERBB4, NDUFA4, RBFOX3, STRADA, ARSI, USP8, WDR48, ZFR, ATP2B4, NOG, PRRX1, NECTIN1, UPB1, KANK1, ALAD, CACNA1B, YWHAE, FBXO38, TRPM7, EXOSC8, CHRM3, FTO, ZBTB16, ERCC1, SNCAIP, GIGYF2, TMCO1, MSX1, TUBA4A, WNT3, IRX5, AIMP1, EXOC8, PLEKHG4, HPSE2, PDE8B, LYZ, CIZ1, HDAC4, NOS3, TRPM6, DRD3, SLC6A5, IGF1, GLRA1, CST3, TFAP2B, GLRB, UMPS, NOP56, IFRD1, TRPS1, POGZ, PEX11B, GYG1, COL4A2, FAM126A, HOXD10, ARHGEF10, NGF, RETREG1, GDNF, ASCL1, CERS1, ARHGAP31, IL1RN, EIF4G1, WNT10A, KCNE5, DSC3, AP1S1, SCN10A, CWF19L1, CHCHD10, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, RUBCN, MAPK10, LMNB1, ITM2B, STUB1, NAT8L, ERCC5, ELOVL5, PIK3R5, NOL3, GRID2, COL18A1, ATCAY, CAMTA1, ATP2B3, ATP8A2, AAAS, ACY1, SLC30A10, ADCY5, GNAL, BCAP31, HPCA, ANO3, DNAJC6, ORC1, ALX3, CD96, CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, TECR, ANK3, CACNG2, EPB41L1, CRADD, NDST1, TAF2, TTI2, CEP63, KNL1, CEP135, ZNF335, MED17, LAMB1, MPDZ, CCDC88C, SNAP29, ASNS, PREPL, MAMLD1, ARSE, ICK, WNT7A, ROR2, DHH, ESCO2, GRIP1, DYNC2H1, ZNF423, RIN2, HEPACAM, WNT5A, CSPP1, PDE6D, PIGL, NTRK2, OCLN, NLRP12, TICAM1, TRAF3, UNC93B1, TCTN3, NOTCH2, PRKRA, RANBP2, COL7A1, DST, FADD, LPIN2, XK, NHEJ1, RBM8A, SLC4A1, AKT1, AKT3, PIK3R2, B3GLCT, ALX1, FREM1, VAX1, CD36, VIPAS39, MYO5A, FGA, A2M, GP1BA, VPS35, PTF1A, ABCA1, B9D2, APOA1, PCBD1, SLC6A3, DRD2, EARS2, FBXO7, SLC20A2, TPK1, SORL1, PRNP, TREM2, CSF1R, IL11RA, TMEM165, COG5, COG6, ALG11, COG4, SCO1, COX10, MARS2, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, EOMES, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1, VEGFA, MASP1, BDNF, DCAF17, COASY, CP, FTL, NOD2, CTC1, GNPAT, CCT5, ASXL1, EFTUD2, RNASET2, EP300, ALX4, CD320, ACE, LHX4, SLC9A9, CSF2RB, DOCK8, ACVRL1, SLC4A4, BLOC1S6, IFT140, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, KDM6A, MAGEL2, TP63, GLI3, RNF135, NFIX, ABCC6, ACTA2, SKI, TGFBR2, TGFBR1, TGFB2, HYAL1, NAGA, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, EXOSC3, VANGL1, MTOR, NEDD4L, CLCN2, NSUN2, TWIST1, MSX2, ZCCHC12, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, USP9X, UPF3B, UBE2A, TSPAN7, EBP, DLG3, DKC1, FANCB, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, HUWE1, IGBP1, PHF8, CHRNG, NEU1, FOXP3, MVK, CLCNKA, KAT6B, PEX5, TBCE, TG, TSHB, TUBGCP6, ASXL3, SEPSECS, AMPD2, RNU4ATAC, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, NLGN3, NLGN4X, CTNNB1, ARID1B, TMEM231, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, ADNP, DIAPH3, TFAP2A, PEX6, MYH9, MYH14, GJB3, CHSY1, PRPS1, SOX10, EDNRB, DNMT1, NLRP3, ERCC2, EDN3, CACNA1D, ACTG1, ACTB, SHANK2, SHANK3, HTRA1, ATP2A2, LBR, TBX1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ASAH1, ALG13, SCN5A, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, KCNT1, GRIN2B, GABRD, FOLR1, SLC6A1, SLC35A2, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, ASPM, MCPH1, COL6A1, LARGE1, COL6A3, COL6A2, POMGNT2, LAMA2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, SLC1A3, CACNB4, KCNA1, SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, FGF10, PGK1, CTDP1, KIF11, ZFYVE27, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, UCHL1, C19orf12, KIF1C, NT5C2, ENTPD1, PGAP1, MAG, REEP2, ERLIN1, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, ERCC6, CHMP1A, PIEZO2, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, GMPPB, POMK, SLC5A7, HNRNPDL, MTMR14, TNPO3, MYF6, LIMS2, COL12A1, AMPD1, PRKAG2, NKX2-1, EMD, SYNE2, SYNE1, IGHMBP2, VRK1, HSPB3, DYNC1H1, BICD2, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, CCDC78, ACTA1, TPM3, UBQLN2, PFN1, VAPB, ANG, TARDBP, CHMP2B, DCTN1, SETX, FUS, SIGMAR1, RYR1, SLC33A1, NIPA1, L1CAM, ATP2A1, KIF5A, SPAST, MATR3, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, KCNJ1, CLCNKB, BSND, LAMB2, INF2, INS, CASR, KCNJ11, FGFR1, SNCA, SGCE, LRRK2, NF1, GCH1, THAP1, TOR1A, CACNA1A, ATXN3, SCN4A, DYSF, CNBP, UBA1, CAV3, FKRP, CLCN1, NOTCH3, AHI1, C9orf72, APOE, MAPT, PSEN2, SCN1A, CSTB, SPG11, EIF2B4, EIF2B2, SMN2, EIF2B3, ZFYVE26, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, TMEM216, RAPSN, PLA2G6, EIF2B5, CLN5, CAPN3, ABCC8, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, POMGNT1, PEX1, MLC1, TH, SACS, SGCB, SGCA, PEX7, PPT1, PROP1, PEX2, NEB, FKTN, DOK7, CLN8, CLN6, CHRNE, RAD50, GPC3, MET, PHOX2B, MRE11, ATM, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, HDAC8, FGFR2, WDR62, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, SERPINI1, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, SZT2, NEXMIF, SLC13A5, TBL1XR1, SETD2, MAGI2, RBFOX1, KMT2D, PDCD10, CCM2, ATP13A2, MFSD8, DNAJC5, KRIT1, TUBB2B, SRPX2, STIL, ADGRG1, CACNA1S, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, SELENON, FHL1, BAG3, RTN2, WASHC5, BSCL2, SOS1, SMN1, SLC2A1, SHOC2, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, KRAS, IKBKG, IDUA, IDS, HRAS, GJC2, FOXG1, EIF2B1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, GBA, ELP1, ARX, ASPA, ARSA, AR, FGFR3, TSHR, HPD, MOGS, DPAGT1, DOLK, ARSB, AHCY, AGA, ABCD4, SDHA, MTFMT, SLC6A8, TMLHE, TACO1, GSN, NEFH, SOD1, PNKD, SNCB, WWOX, KIF21A, HESX1, ALMS1, CLN3, TPP1, ASL, APTX, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PRKN, PMM2, MGAT2, SLC25A20, SLC22A5, SIX6, CYP27A1, ASS1, SLC3A1, COX6B1, FASTKD2, LRPPRC, FXN, GCDH, ETFDH, ETFA, ETFB, DBT, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CHAT, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, AGXT, PAH, QDPR, PTS, PGAM2, ACOX1, ALDH7A1, SLC35C1, PHYH, LPIN1, HEXB, ALDH3A2, ALDH5A1, GM2A, HEXA, ABHD5, LMBRD1, MMADHC, ABCD1, BCOR, SLC9A6, ACSL4, PHKA1, MAOA, AIFM1, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, FRMD7, OTC, PUS1, ALG3, ETHE1, PTCH1, NBN, MPI, TYMP, ALG6, GAD1, SLC35A1, SCO2, CISD2, AMT, GLDC, GCSH, PINK1, HMGCS2, PARK7, B4GALT1, ALG12, SPG7, COQ2, GRN, ALG2, ALG8, AP3B1, ALG1, ATIC, ALG9, COG7, DPM1, HADHB, FLVCR1, GFM1, MPDU1, SLC25A22, TK2, ACADSB, CTSD, POLG2, DNAJC19, REEP1, HTRA2, TSFM, PNPLA2, SLC25A3, TUSC3, DARS2, COG8, COG1, RARS2, GYS1, TUBA1A, RFT1, COQ8A, SUCLA2, STXBP1, SPR, GATM, GAMT, ENO3, LDHA, PGM1, DPM3, SLC25A12, TMEM126A, TLR3, GFER, ABAT, SPTLC2, KARS, SCP2, NUBPL, NDUFA10, MTPAP, TTC19, CCDC28B, NDUFAF1, PCK2, NFU1, TMEM70, HPS3, HPS4, HPS5, HPS6, BLOC1S3, ACSF3, BOLA3, DGUOK, DNM1L, HPS1, ALDH18A1, AGK, NDUFA9, NDUFB3, DDOST, NDUFA12, ACO2, PDSS1, PDSS2, COQ9, MTO1, CYP11B2, MECP2, SMPD1, VCP, FH, OPA3, RAF1, HADHA, PANK2, CRYAB, MFN2, KIF1B, NDUFAF2, RRM2B, FOXRED1, AFG3L2, GARS, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, PRPH2, SHH, TRIM32, TTC8, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, TMEM67, NHS, HPRT1, NDP, ELOVL4, OCRL, HSD17B10, GNE, SRD5A3, ATP6V0A2, CC2D2A, GLB1, PSAP, WFS1, DTNBP1, KRT5, OPA1, CPT2, HSD17B4, AMACR, MTRR, INPP5E, GPR143, GBE1, PYGM, PFKM, HK1, ALDH4A1, GALC, SUCLG1, OPTN, RET, MTR, TUBB3, PSEN1, TGFB1, PAX6, AMN, APP, PRKCG, FBLN5, MMACHC, ADSL, GAA, C12orf65, TWNK, BEST1, BCS1L, BCKDHB, BCKDHA, ATPAF2, ATP7B, ATP7A, ATP5F1E, TYROBP, UQCRB, ARG1, UQCRQ, PC, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, ACACA, ABHD12, AARS2, PTEN, VHL, UBE3A, TTR, MTHFR, HFE, HTT, FMR1, F5, F2
Specificity
1 %
Genes
100 %
|
CentoICU platinum plus.
By Centogene AG - the Rare Disease Company in Germany.
OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN , (...)
View the complete list with 494 more genes
OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN, IGF1R, MALT1, IL21R, PCK1, IGF1, HGD, UMPS, TRHR, SLC52A1, SERPINC1, PEPD, GP9, ACTN1, ASNS, FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4, PROS1, LRBA, PIK3CD, C15orf41, GSS, EPB42, ANK1, SPTA1, SPTB, PTPRC, LIG4, NHEJ1, RAC2, LAMTOR2, RBM8A, ELANE, SLC4A1, INSR, GNA11, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, CD40LG, CD40, AICDA, TNFRSF13B, MASTL, ITGA2B, ITGB3, GFI1B, STIM1, P2RY12, P2RX1, FGG, FGB, FGA, GP1BA, EIF2AK3, PTF1A, GLIS3, AKT2, APOC2, HADH, PSPH, PCBD1, DDC, MAT1A, SLC46A1, MYCN, RBBP8, IER3IP1, RAB18, EVC2, EVC, AKR1D1, BDNF, FANCD2, FANCA, ADAMTS13, F8, F9, GNAS, JAK3, TBX5, SALL4, CD320, LHX3, LHX4, TBX19, SPINK1, F11, RAB3GAP2, DNA2, PRKAG2, SFTPB, SFTPC, ABCA3, DOCK8, SFTPD, KDM6A, AKAP9, CALM1, MITF, GPSM2, CACNB2, ATR, PCNT, CDK5RAP2, CEP152, SPRED1, COMP, NAA10, RPS6KA3, FANCB, MAGT1, CDAN1, NEU1, UROS, PKLR, MVK, KLF1, GATA1, GATA3, SIX1, KCNQ1, KCNE1, PRPS1, SIX5, KCNQ4, PAX3, PNPT1, COL11A1, EDN3, CACNA1D, ATP6V1B1, SALL1, ZEB2, CASK, ATRX, TCF4, KCNJ10, SPTAN1, KMT2D, STIL, RAB3GAP1, CENPJ, BCKDK, EPM2A, PNPO, KCNQ3, KCNQ2, SCN2A, ST3GAL5, KCNH2, NHLRC1, ASPM, MCPH1, LAMA2, POMT1, POMT2, PLEC, PKD2, BSND, POU1F1, HNF4A, PDX1, INS, CASR, KCNJ11, NR0B1, GCH1, SCN1A, CSTB, WNK1, EGR2, PMP22, TGM1, PKHD1, PHGDH, LAMC2, BTK, ABCC8, WAS, SUMF1, LAMA3, UGT1A1, SLC26A2, SLC7A7, SERPINA1, DCLRE1C, PROP1, CTNS, G6PD, FKTN, LAMB3, SBDS, GPC3, PHOX2B, NSD1, NIPBL, TSC1, TSC2, MAP2K2, FGFR2, WDR62, SOS1, SLC2A1, SHOC2, RPS19, RMRP, NRAS, NPC2, NPC1, MEF2C, MAP2K1, LIPA, KRAS, HRAS, GLA, GJB2, FOXG1, DHCR7, CHD7, CDKL5, BRAF, F13A1, CD79B, IGLL1, CD79A, BLNK, LRRC8A, SLCO1B3, SLCO1B1, PSAT1, LIPN, CYP4F22, PNPLA1, ALOXE3, STS, CERS3, NIPAL4, ALOX12B, SERPING1, F10, PET100, COA5, SERAC1, TG, TPO, SLC5A5, DUOX2, DUOXA2, THRA, TSHB, PAX8, SLC25A1, CACNA1C, FUCA1, TJP2, FANCC, CFTR, ASPA, ARSA, TSHR, PNP, IL2RG, HPD, GNMT, DOLK, SUGCT, ARSB, AHCY, AGA, ADA, ABCD4, PDHX, PAX2, HESX1, ANKRD26, CYP17A1, OGDH, ALMS1, SOX2, ASL, PMM2, SLC25A20, SLC22A5, ASS1, SLC3A1, LRPPRC, GLYCTK, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, CBS, NAGS, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, MAN2B1, DBT, HIBCH, MUT, MMAA, MMAB, NDUFAF5, NDUFS2, NDUFV2, NDUFA11, SDHAF1, MOCS1, MOCS2, GALNS, GUSB, CPT1A, NDUFAF6, NDUFS7, COX15, NDUFA2, CTSA, OAT, AGXT, ACOX1, ALDH7A1, HEXB, ALDH3A2, ALDH5A1, SUOX, HEXA, TCN2, LMBRD1, MMADHC, SLC9A6, AIFM1, TAZ, GK, PDHA1, OTC, D2HGDH, ETHE1, AMT, GLDC, HMGCS2, PCCA, COQ2, UCP2, UNG, PDP1, HADHB, ACADSB, CTSD, DNAJC19, CRTAP, P3H1, ACAD8, SUCLA2, STXBP1, SPR, GATM, GAMT, ABAT, TAT, HSD3B2, HMGCL, NDUFAF1, FAH, NFU1, ALDH6A1, PDHB, ACSF3, LIAS, PDSS1, PDSS2, COQ9, FBN1, CYP11B2, MECP2, SMPD1, FH, OPA3, RAF1, HADHA, SLC25A13, ALAS2, NDUFAF2, FOXRED1, CYP11B1, GCK, SLC25A19, NDUFS4, POLG, DLD, AASS, CEP290, ADGRV1, MKKS, HPRT1, JAG1, HSD17B10, GNE, PRODH, GLB1, GNPTAB, PSAP, COMT, PTPN11, POMC, PLOD1, PAH, QDPR, PTS, WFS1, TRMU, KRT5, CPT2, CPS1, HSD17B4, MTRR, SLC16A1, ABCA12, EYA4, SLC37A4, RET, MTR, HNF1B, PSEN1, RB1, WT1, STAR, COL1A2, COL1A1, EYA1, MMACHC, HBB, HNF1A, ADSL, GAA, C12orf65, BCS1L, BCKDHB, BCKDHA, AUH, ATP8B1, ATP7B, BTD, ATP7A, HLCS, ARG1, ALPL, GYS2, PC, FBP1, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, AARS2, MCCC2, MCCC1, UBE3A, MTHFR, F5, F2, BRCA2
Specificity
1 %
Genes
38 %
|
CentoICU platinum.
By Centogene AG - the Rare Disease Company in Germany.
FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4 , (...)
View the complete list with 494 more genes
FRAS1, TSPYL1, IL2RA, CARD11, NOTCH2, TNFRSF13C, PRKDC, ICOS, CD81, CR2, CD19, F7, JAGN1, ABCC2, NFKB2, IL12RB1, COL7A1, COL17A1, ITGA6, ITGB4, PROS1, LRBA, PIK3CD, C15orf41, GSS, EPB42, ANK1, SPTA1, SPTB, PTPRC, LIG4, NHEJ1, RAC2, LAMTOR2, RBM8A, ELANE, SLC4A1, INSR, GNA11, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, CD40LG, CD40, AICDA, TNFRSF13B, MASTL, ITGA2B, ITGB3, GFI1B, STIM1, P2RY12, P2RX1, FGG, FGB, FGA, GP1BA, EIF2AK3, PTF1A, GLIS3, AKT2, APOC2, HADH, PSPH, PCBD1, DDC, MAT1A, SLC46A1, MYCN, RBBP8, IER3IP1, RAB18, EVC2, EVC, AKR1D1, BDNF, FANCD2, FANCA, ADAMTS13, F8, F9, GNAS, JAK3, TBX5, SALL4, CD320, LHX3, LHX4, TBX19, SPINK1, F11, RAB3GAP2, DNA2, PRKAG2, SFTPB, SFTPC, ABCA3, DOCK8, SFTPD, KDM6A, AKAP9, CALM1, MITF, GPSM2, CACNB2, ATR, PCNT, CDK5RAP2, CEP152, SPRED1, COMP, NAA10, RPS6KA3, FANCB, MAGT1, CDAN1, NEU1, UROS, PKLR, MVK, KLF1, GATA1, CACNA1C, FUCA1, TJP2, GATA3, SIX1, KCNQ1, KCNE1, PRPS1, SIX5, KCNQ4, PAX3, PNPT1, COL11A1, EDN3, CACNA1D, ATP6V1B1, SALL1, ZEB2, CASK, ATRX, TCF4, KCNJ10, SPTAN1, KMT2D, STIL, RAB3GAP1, CENPJ, BCKDK, EPM2A, EGR2, PMP22, TGM1, PKHD1, PHGDH, LAMC2, BTK, ABCC8, WAS, SUMF1, LAMA3, UGT1A1, SLC26A2, SLC7A7, SERPINA1, DCLRE1C, PROP1, CTNS, G6PD, FKTN, LAMB3, SBDS, GPC3, PHOX2B, NSD1, NIPBL, TSC1, TSC2, MAP2K2, FGFR2, WDR62, SOS1, SLC2A1, SHOC2, RPS19, RMRP, PTPN11, POMC, PLOD1, NRAS, NPC2, NPC1, MEF2C, MAP2K1, LIPA, KRAS, HRAS, GLA, GJB2, FOXG1, DHCR7, CHD7, CDKL5, BRAF, FANCC, CFTR, ASPA, ARSA, TSHR, PNP, IL2RG, HPD, GNMT, DOLK, SUGCT, ARSB, AHCY, AGA, ADA, ABCD4, PDHX, PAX2, OPLAH, PPM1K, IKBKB, LCK, CABS1, SOX6, OPRM1, IL2, CTPS1, IRF8, CD247, ADK, UQCC2, MPC1, UPB1, CORO1A, CD3G, MCM4, UQCRC2, GPHN, IGF1R, MALT1, IL21R, PCK1, IGF1, HGD, UMPS, TRHR, SLC52A1, SERPINC1, PEPD, F13A1, CD79B, IGLL1, CD79A, BLNK, LRRC8A, SLCO1B3, SLCO1B1, PSAT1, LIPN, CYP4F22, PNPLA1, ALOXE3, STS, CERS3, NIPAL4, ALOX12B, SERPING1, F10, PET100, COA5, SERAC1, TG, TPO, SLC5A5, DUOX2, DUOXA2, THRA, TSHB, PAX8, SLC25A1, GP9, ACTN1, ASNS, HESX1, ANKRD26, CYP17A1, OGDH, ALMS1, SOX2, ASL, PMM2, SLC25A20, SLC22A5, ASS1, SLC3A1, LRPPRC, GLYCTK, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, CBS, NAGS, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, MAN2B1, DBT, HIBCH, MUT, MMAA, MMAB, NDUFAF5, NDUFS2, NDUFV2, NDUFA11, SDHAF1, MOCS1, MOCS2, GALNS, GUSB, CPT1A, NDUFAF6, NDUFS7, COX15, NDUFA2, CTSA, OAT, AGXT, PAH, QDPR, PTS, ACOX1, ALDH7A1, HEXB, ALDH3A2, ALDH5A1, SUOX, HEXA, TCN2, LMBRD1, MMADHC, SLC9A6, AIFM1, TAZ, GK, PDHA1, OTC, D2HGDH, ETHE1, AMT, GLDC, HMGCS2, PCCA, COQ2, UCP2, UNG, PDP1, HADHB, ACADSB, CTSD, DNAJC19, CRTAP, P3H1, ACAD8, SUCLA2, STXBP1, SPR, GATM, GAMT, ABAT, TAT, HSD3B2, HMGCL, NDUFAF1, FAH, NFU1, ALDH6A1, PDHB, ACSF3, LIAS, PDSS1, PDSS2, COQ9, FBN1, CYP11B2, MECP2, SMPD1, FH, OPA3, RAF1, HADHA, SLC25A13, ALAS2, NDUFAF2, FOXRED1, CYP11B1, GCK, SLC25A19, NDUFS4, POLG, DLD, AASS, CEP290, ADGRV1, MKKS, HPRT1, JAG1, HSD17B10, GNE, PRODH, GLB1, GNPTAB, PSAP, COMT, WFS1, TRMU, KRT5, CPT2, CPS1, HSD17B4, MTRR, SLC16A1, ABCA12, EYA4, SLC37A4, RET, MTR, HNF1B, PSEN1, PNPO, KCNQ3, KCNQ2, SCN2A, ST3GAL5, KCNH2, NHLRC1, ASPM, MCPH1, LAMA2, POMT1, POMT2, PLEC, PKD2, BSND, POU1F1, HNF4A, PDX1, INS, CASR, KCNJ11, NR0B1, GCH1, SCN1A, CSTB, WNK1, RB1, WT1, STAR, COL1A2, COL1A1, EYA1, MMACHC, HBB, HNF1A, ADSL, GAA, C12orf65, BCS1L, BCKDHB, BCKDHA, AUH, ATP8B1, ATP7B, BTD, ATP7A, HLCS, ARG1, ALPL, GYS2, PC, FBP1, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, AARS2, MCCC2, MCCC1, UBE3A, MTHFR, F5, F2, BRCA2
Specificity
1 %
Genes
38 %
|
Dravet syndrome.
By bio.logis Center for Human Genetics Diagnosticum in Germany.
SCN1A
Specificity
100 %
Genes
13 %
|
Epileptic Encephalopathy Panel.
By CeGaT GmbH in Germany.
GPHN, HDAC4, ACY1, ADAR, TREX1, ZEB2, CASK, SYN1, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, GRIN1, NRXN1 , (...)
View the complete list with 57 more genes
GPHN, HDAC4, ACY1, ADAR, TREX1, ZEB2, CASK, SYN1, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, GRIN1, NRXN1, SCN8A, ROGDI, ST3GAL3, WDR45, GNAO1, SZT2, KCNB1, DNM1, KCNA2, HNRNPU, FLNA, DCX, BRAT1, TBC1D24, ALG13, MBD5, GRIN2A, GABRG2, GABRA1, CHD2, PNPO, KCNQ2, KCNT1, GRIN2B, FOLR1, SLC35A2, SCN2A, SCN1B, ST3GAL5, SLC19A3, GABRB3, CACNA1A, SCN1A, TSC1, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, MOCS1, MOCS2, ALDH7A1, SLC9A6, AMT, GLDC, GCSH, SLC25A22, STXBP1, GAMT, MECP2, CPT2, ADSL, UBE3A, MTHFR
Specificity
10 %
Genes
88 %
|
Idiopathic Generalized and Focal Epilepsy Panel.
By CeGaT GmbH in Germany.
NIPA2, UBR5, RBFOX3, CNTN2, CLCN2, SCN8A, RBFOX1, PRRT2, DEPDC5, TBC1D24, KCNMA1, GRIN2A, GABRG2, GABRA1, CHRNA4, CHRNA2, KCNQ3, KCNQ2, KCNT1, GABRD , (...)
View the complete list with 20 more genes
NIPA2, UBR5, RBFOX3, CNTN2, CLCN2, SCN8A, RBFOX1, PRRT2, DEPDC5, TBC1D24, KCNMA1, GRIN2A, GABRG2, GABRA1, CHRNA4, CHRNA2, KCNQ3, KCNQ2, KCNT1, GABRD, STX1B, SCN2A, SCN1B, SCN9A, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, SLC1A3, CACNB4, KCNA1, CASR, CACNA1A, SCN1A, SLC2A1, ALDH7A1, ME2, AMACR
Specificity
15 %
Genes
75 %
|
Migraine Panel.
By CeGaT GmbH in Germany.
KCNK18, PRRT2, ATP1A3, ATP1A2, SLC1A3, CACNA1A, NOTCH3, SCN1A, SLC2A1, POLG
Specificity
10 %
Genes
13 %
|
Single gene testing SCN1A.
By CeGaT GmbH in Germany.
SCN1A
Specificity
100 %
Genes
13 %
|
Dravet syndrome.
By Laboratory of Human Genetics GENOMED Health Care Center in Poland.
GABRG2, GABRA1, SCN2A, SCN9A, SCN1A, PCDH19, STXBP1
Specificity
100 %
Genes
88 %
|
Generalized epilepsy with febrile seizures plus.
By Laboratory of Human Genetics GENOMED Health Care Center in Poland.
GABRG2, GABRD, SCN2A, SCN1B, SCN9A, SCN1A
Specificity
84 %
Genes
63 %
|
SCN1A-Related Seizure Disorders.
By MVZ Dortmund Dr. Eberhard & Partner in Germany.
SCN1A
Specificity
100 %
Genes
13 %
|
Familial Hemiplegic Migraine 3.
By MVZ Dortmund Dr. Eberhard & Partner in Germany.
SCN1A
Specificity
100 %
Genes
13 %
|
Dravet Syndrome, SCN1A.
By MVZ Dortmund Dr. Eberhard & Partner in Germany.
SCN1A
Specificity
100 %
Genes
13 %
|
Familial hemiplegic Migraine Type 3, SCNA1.
By MVZ Dortmund Dr. Eberhard & Partner in Germany.
SCN1A
Specificity
100 %
Genes
13 %
|
Epilepsy.
By Asper Biogene Asper Biogene LLC in Estonia.
SNIP1, ITPA, GPHN, PIGT, SLC12A5, CERS1, FGF12, KIF5C, ADAR, SMARCA2, AARS, MTOR, NECAP1, ZDHHC9, HUWE1, CACNA1D, CASK, ATP6AP2, SYN1, ARHGEF9 , (...)
View the complete list with 104 more genes
SNIP1, ITPA, GPHN, PIGT, SLC12A5, CERS1, FGF12, KIF5C, ADAR, SMARCA2, AARS, MTOR, NECAP1, ZDHHC9, HUWE1, CACNA1D, CASK, ATP6AP2, SYN1, ARHGEF9, SYP, IQSEC2, ATRX, SERPINI1, TCF4, PNKP, SPTAN1, PLCB1, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, DOCK7, SLC13A5, KCNB1, PURA, SIK1, DNM1, KCNA2, EEF1A2, SPATA5, SRPX2, FLNA, RELN, DCX, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ALG13, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, ST3GAL5, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, KCNA1, DYNC1H1, KIF1A, CACNA1A, SCN1A, CSTB, SLC35A3, TSC1, SYNGAP1, TSC2, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC6A8, WWOX, MOCS1, MOCS2, ALDH7A1, SLC9A6, ALG3, SLC25A22, STXBP1, GAMT, MECP2, POLG, TUBB3, ADSL, GATM, MCCC1, UBE3A
Specificity
6 %
Genes
88 %
|
Autism Spectrum Disorders.
By Asper Biogene Asper Biogene LLC in Estonia.
EN2, PDE8B, AVPR1A, SLC6A4, SLC9A9, MAGEL2, RPL10, NLGN4X, HOXA1, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, NTNG1, ADNP, PTCHD1, SHANK3, VPS13B , (...)
View the complete list with 32 more genes
EN2, PDE8B, AVPR1A, SLC6A4, SLC9A9, MAGEL2, RPL10, NLGN4X, HOXA1, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, NTNG1, ADNP, PTCHD1, SHANK3, VPS13B, ZEB2, CNTNAP2, ANKRD11, NRXN1, SETD2, RELN, PQBP1, SCN2A, SCN1A, NSD1, NIPBL, TSC1, SMC3, RAD21, TSC2, HDAC8, RAI1, PTPN11, PCDH19, FOXG1, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, SLC6A8, MECP2, NHS, HPRT1, ADSL, UBE3A
Specificity
6 %
Genes
38 %
|
SCN1A-Related Seizure Disorders.
By Secugen SL in Spain.
SCN1A
Specificity
100 %
Genes
13 %
|
Dravet syndrome.
By Praxis fuer Humangenetik Wien in Austria.
SCN1A
Specificity
100 %
Genes
13 %
|
Epilepsy, generalized with febrile seizures plus (GEFS+) 2.
By Praxis fuer Humangenetik Wien in Austria.
SCN1A
Specificity
100 %
Genes
13 %
|
Febrile seizures, familial, 3a.
By Praxis fuer Humangenetik Wien in Austria.
SCN1A
Specificity
100 %
Genes
13 %
|
Migraine, familial hemiplegic, 3.
By Praxis fuer Humangenetik Wien in Austria.
SCN1A
Specificity
100 %
Genes
13 %
|
Sever myoclonic epilepsy of infancy.
By Praxis fuer Humangenetik Wien in Austria.
SCN1A
Specificity
100 %
Genes
13 %
|
SCN1A Gene Sequencing.
By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia.
SCN1A
Specificity
100 %
Genes
13 %
|
SCN1A.
By Division Human Genetics Medical University Innsbruck in Austria.
SCN1A
Specificity
100 %
Genes
13 %
|
qChip.
By Quantitative Genomic Medicine Laboratories, SL in Spain.
SEM1, IGF2, CBFB, TRAPPC10, FBXW11, TBX3, HDAC4, TRPS1, STS, HOXD13, LMNB1, MID2, IRF6, MNX1, SIM1, DISP1, MYCN, GATA4, ZIC3, VEGFA , (...)
View the complete list with 106 more genes
SEM1, IGF2, CBFB, TRAPPC10, FBXW11, TBX3, HDAC4, TRPS1, STS, HOXD13, LMNB1, MID2, IRF6, MNX1, SIM1, DISP1, MYCN, GATA4, ZIC3, VEGFA, SATB2, EP300, TBX5, SALL4, LHX4, NR5A1, SH2D1A, NKX2-5, TP63, MITF, SNRPN, GLI3, TGFBR2, TGFBR1, ZIC2, TGIF1, SOX9, TWIST1, IL1RAPL1, SOX3, CLCNKA, EHMT1, GATA3, PAX3, SALL1, SHANK3, ZEB2, PAK3, OFD1, ADGRG1, PAFAH1B1, RELN, SIX3, EMX2, DCX, PKD1, COL4A5, SLC12A1, KCNJ1, CLCNKB, BSND, SLC12A3, ANOS1, CASR, SHOX, NR0B1, NF1, AHI1, MAPT, SCN1A, PMP22, BTK, SMAD4, BMPR1A, NF2, PTCH1, NSD1, NIPBL, SMC1A, TSC2, MAP2K2, SRY, SOS1, RUNX2, RAI1, PTPN11, PLP1, MAP2K1, KRAS, DHCR7, CHD7, CDKL5, BRAF, ARX, LMX1B, SOX2, TIMM8A, GK, HCCS, OTC, RS1, FBN1, MECP2, SHH, CEP290, NPHP1, NDP, JAG1, PITX2, OCRL, ELN, HNF1B, LEMD3, RB1, PAX6, WT1, APP, OCA2, COL2A1, EYA1, FOXL2, TP53, PTEN, APC, UBE3A, FMR1
Specificity
1 %
Genes
13 %
|
Dravet syndrome.
By MedGene in Slovakia.
SCN1A
Specificity
100 %
Genes
13 %
|
Epilepsy, generalized with febrile seizures plus (GEFS+) 2.
By MedGene in Slovakia.
SCN1A
Specificity
100 %
Genes
13 %
|
Febrile seizures, familial, 3a.
By MedGene in Slovakia.
SCN1A
Specificity
100 %
Genes
13 %
|
Migraine, familial hemiplegic, 3.
By MedGene in Slovakia.
SCN1A
Specificity
100 %
Genes
13 %
|
Sever myoclonic epilepsy of infancy.
By MedGene in Slovakia.
SCN1A
Specificity
100 %
Genes
13 %
|
Invitae Epilepsy Panel.
By Invitae in United States.
ITPA, SNX27, FRRS1L, NGLY1, GLRA1, C12orf57, PACS1, IER3IP1, SATB2, ZDHHC9, EHMT1, ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, ATRX, SERPINI1, CNTNAP2, TCF4 , (...)
View the complete list with 105 more genes
ITPA, SNX27, FRRS1L, NGLY1, GLRA1, C12orf57, PACS1, IER3IP1, SATB2, ZDHHC9, EHMT1, ZEB2, CASK, SYN1, ARHGEF9, IQSEC2, ATRX, SERPINI1, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, GNAO1, SZT2, NEXMIF, SLC13A5, KCNB1, PURA, DNM1, KCNA2, EEF1A2, SPATA5, HNRNPU, CACNA2D2, MFSD8, DNAJC5, QARS, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ALG13, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, SLC19A3, SCN9A, PRICKLE1, KCNH2, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CHRNB2, ATP1A3, ATP1A2, SGCE, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, SMC1A, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC6A8, PNKD, WWOX, CLN3, TPP1, ALDH7A1, ALDH5A1, SLC9A6, SLC25A22, CTSD, STXBP1, GATM, GAMT, LIAS, MECP2, POLG, ADSL, UBE3A
Specificity
7 %
Genes
100 %
|
Invitae Early Infantile Epileptic Encephalopathy Panel.
By Invitae in United States.
FRRS1L, IER3IP1, CASK, ARHGEF9, PNKP, SPTAN1, PLCB1, PIGN, GRIN1, PIGA, SCN8A, GNAO1, SZT2, SLC13A5, KCNB1, PURA, DNM1, KCNA2, EEF1A2, HNRNPU , (...)
View the complete list with 29 more genes
FRRS1L, IER3IP1, CASK, ARHGEF9, PNKP, SPTAN1, PLCB1, PIGN, GRIN1, PIGA, SCN8A, GNAO1, SZT2, SLC13A5, KCNB1, PURA, DNM1, KCNA2, EEF1A2, HNRNPU, CACNA2D2, PIGO, BRAT1, TBC1D24, GABRA1, CHD2, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC6A1, SLC35A2, SCN2A, SCN9A, GABRB3, SCN1A, SMC1A, SYNGAP1, SLC2A1, PCDH19, CDKL5, ARX, WWOX, ALDH7A1, SLC25A22, STXBP1
Specificity
13 %
Genes
75 %
|
Epilepsy of infancy, Severe myoclonic: SCN1A gene sequence analysis.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
SCN1A
Specificity
100 %
Genes
13 %
|
Hemiplegic migraine type 3, Familial: SCN1A gene sequence analysis.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
SCN1A
Specificity
100 %
Genes
13 %
|
DRAVET, SYNDROME & MIOCLONIC EPILEPSY.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
GABRG2, GABRA1, EPM2A, GABRD, SCN2A, SCN1B, SCN9A, NHLRC1, EFHC1, CACNB4, SCN1A, PCDH19, CHRNA7
Specificity
54 %
Genes
88 %
|
MIGRAINE.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
ATP1A2, CACNA1A, NOTCH3, SCN1A, SLC2A1, POLG
Specificity
17 %
Genes
13 %
|
EPILEPSY HEREDITARY PANEL.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
JRK, CLCN2, SCN8A, SRPX2, PRRT2, DEPDC5, KCNMA1, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, KCNQ3, KCNQ2, GABRD, SCN2A, SCN1B, SCN9A, NHLRC1, GABRB3 , (...)
View the complete list with 17 more genes
JRK, CLCN2, SCN8A, SRPX2, PRRT2, DEPDC5, KCNMA1, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, KCNQ3, KCNQ2, GABRD, SCN2A, SCN1B, SCN9A, NHLRC1, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A2, CACNB4, KCNA1, CACNA1A, SCN1A, MT-ATP6, SLC2A1, PCDH19, CDKL5, ARX, ALDH7A1, STXBP1
Specificity
22 %
Genes
100 %
|
Epileptic encephalopathies.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
MAPK10, AARS, TREX1, CASK, ARHGEF9, PNKP, SPTAN1, PLCB1, PIGA, SCN8A, ST3GAL3, DNM1, SRPX2, DCX, TBC1D24, MBD5, GRIN2A, GABRA1, CHD2, KCNQ2 , (...)
View the complete list with 15 more genes
MAPK10, AARS, TREX1, CASK, ARHGEF9, PNKP, SPTAN1, PLCB1, PIGA, SCN8A, ST3GAL3, DNM1, SRPX2, DCX, TBC1D24, MBD5, GRIN2A, GABRA1, CHD2, KCNQ2, HCN1, GRIN2B, SCN2A, SCN1A, SLC2A1, PCDH19, CDKL5, ARX, WWOX, AMT, GLDC, GCSH, SLC25A22, STXBP1, MECP2
Specificity
15 %
Genes
63 %
|
SCN1A-Related Disorders: SCN1A Full Gene Sequencing.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
SCN1A
Specificity
100 %
Genes
13 %
|
SCN1A-Related Disorders: SCN1A Gene Deletion/Duplication.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
SCN1A
Specificity
100 %
Genes
13 %
|
Epilepsy and Seizure Disorders: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2 , (...)
View the complete list with 90 more genes
ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, RELN, SIX3, NDE1, EMX2, DCX, CENPJ, BCKDK, PRRT2, TBC1D24, SCARB2, KCNMA1, MBD5, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, FOLR1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CPA6, CHRNB2, ATP1A2, ASPM, MCPH1, CACNB4, KCNA1, CASR, KCNJ11, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, TSC2, WDR62, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, CLN3, TPP1, CYP27A1, NDUFA1, ALDH7A1, ALDH5A1, SLC9A6, SLC25A22, CTSD, STXBP1, GATM, GAMT, ABAT, LIAS, MECP2, SLC25A19, POLG, SHH, ADGRV1, ADSL, UBE3A, MTHFR
Specificity
8 %
Genes
100 %
|
Autism Spectrum Disorders: Tier 2 Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
NR1I3, SMARCB1, MAGEL2, UBE2A, AFF2, NLGN3, NLGN4X, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, VPS13B, ZEB2, RAB39B, CASK , (...)
View the complete list with 42 more genes
NR1I3, SMARCB1, MAGEL2, UBE2A, AFF2, NLGN3, NLGN4X, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, VPS13B, ZEB2, RAB39B, CASK, OPHN1, KDM5C, PHF6, FGD1, ATRX, CNTNAP2, TCF4, PNKP, NRXN1, PAFAH1B1, RELN, PQBP1, BCKDK, MBD5, FOLR1, L1CAM, SCN1A, NSD1, NIPBL, SMC1A, SLC2A1, RAI1, PTPN11, PCDH19, MEF2C, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, ALDH5A1, SLC9A6, MECP2, NHS, HPRT1, ADSL, PTEN, UBE3A, FMR1
Specificity
4 %
Genes
25 %
|
Neurology: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
MAPK10, POC1A, ORC4, ORC6, CDT1, CDC6, NIN, CEP63, KNL1, CEP135, ZNF335, RTTN, DISP1, VLDLR, MYCN, RBBP8, RAB18, EOMES, CEP41, KIF7 , (...)
View the complete list with 144 more genes
MAPK10, POC1A, ORC4, ORC6, CDT1, CDC6, NIN, CEP63, KNL1, CEP135, ZNF335, RTTN, DISP1, VLDLR, MYCN, RBBP8, RAB18, EOMES, CEP41, KIF7, RPGRIP1L, TMEM138, TMEM237, RAB3GAP2, CHMP1A, ATR, PCNT, CDK5RAP2, GLI2, FOXH1, NODAL, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, EXOSC3, EHMT1, LAMC3, ACTG1, ACTB, ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, ATRX, KIF1BP, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, DCX, CENPJ, ARFGEF2, BCKDK, PRRT2, TBC1D24, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, KCNT1, GRIN2B, FOLR1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CPA6, CHRNB2, ATP1A2, ASPM, MCPH1, LARGE1, CACNB4, POMT1, POMT2, VRK1, FGF8, FKRP, AHI1, SCN1A, CSTB, TMEM216, CLN5, POMGNT1, PPT1, FKTN, CLN8, CLN6, PTCH1, TSC1, TSC2, WDR62, SLC2A1, PCDH19, MEF2C, FOXG1, DHCR7, CDKL5, ARX, CLN3, TPP1, MKS1, ALDH7A1, SLC9A6, SLC25A22, CTSD, RARS2, TUBA1A, STXBP1, GATM, GAMT, LIAS, MECP2, SLC25A19, POLG, SHH, CEP290, ADGRV1, NPHP1, TMEM67, CC2D2A, TUBB3, ADSL, UBE3A
Specificity
5 %
Genes
100 %
|
Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
NR1I3, SMARCB1, MAGEL2, UBE2A, AFF2, NLGN3, NLGN4X, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, VPS13B, ZEB2, RAB39B, CASK, OPHN1 , (...)
View the complete list with 39 more genes
NR1I3, SMARCB1, MAGEL2, UBE2A, AFF2, NLGN3, NLGN4X, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, VPS13B, ZEB2, RAB39B, CASK, OPHN1, KDM5C, PHF6, FGD1, ATRX, CNTNAP2, TCF4, PNKP, NRXN1, PAFAH1B1, RELN, PQBP1, BCKDK, MBD5, FOLR1, L1CAM, SCN1A, NSD1, NIPBL, SMC1A, SLC2A1, RAI1, PTPN11, PCDH19, MEF2C, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, SLC9A6, MECP2, NHS, HPRT1, PTEN, UBE3A, FMR1
Specificity
4 %
Genes
25 %
|
Epilepsy and Seizure Disorders: Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2 , (...)
View the complete list with 87 more genes
ZEB2, CASK, ATP6AP2, OPHN1, SYN1, ARHGEF9, PHF6, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ST3GAL3, MAGI2, MFSD8, DNAJC5, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, RELN, SIX3, NDE1, EMX2, DCX, CENPJ, BCKDK, TBC1D24, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CPA6, CHRNB2, ATP1A2, ASPM, MCPH1, CACNB4, KCNA1, CASR, KCNJ11, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, TSC2, WDR62, SLC2A1, SCARB2, KCNMA1, MBD5, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, FOLR1, SCN2A, SCN1B, ST3GAL5, PCDH19, MEF2C, FOXG1, CDKL5, ARX, CLN3, TPP1, NDUFA1, ALDH7A1, SLC9A6, SLC25A22, CTSD, STXBP1, GATM, GAMT, ABAT, LIAS, MECP2, SLC25A19, POLG, SHH, ADGRV1, ADSL, UBE3A, MTHFR
Specificity
8 %
Genes
100 %
|
Autism NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
AVPR1A, BDNF, SLC6A4, AUTS2, DOCK4, GABRG1, GNA14, IMMP2L, KATNAL2, KCTD13, KLHL3, NEGR1, PDE10A, PIP5K1B, PON3, SATB2, SMG6, SOX5, ST7, STK3 , (...)
View the complete list with 80 more genes
AVPR1A, BDNF, SLC6A4, AUTS2, DOCK4, GABRG1, GNA14, IMMP2L, KATNAL2, KCTD13, KLHL3, NEGR1, PDE10A, PIP5K1B, PON3, SATB2, SMG6, SOX5, ST7, STK3, ZNF507, ZNF804A, ZNHIT6, CNTNAP5, DLGAP2, DPP10, DPP6, GRPR, PCDH9, SLC9A9, SNRPN, RPL10, NLGN3, NLGN4X, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, NTNG1, PTCHD1, SHANK2, SHANK3, VPS13B, ZEB2, RAB39B, CASK, OPHN1, KDM5C, PHF6, FGD1, ATRX, CNTNAP2, TCF4, PNKP, ANKRD11, NRXN1, RBFOX1, PAFAH1B1, RELN, PQBP1, MBD5, GRIN2B, FOLR1, SCN2A, GABRB3, L1CAM, SPAST, SCN1A, MET, NSD1, NIPBL, TSC1, SMC1A, TSC2, RAI1, PTPN11, PCDH19, MEF2C, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, SLC9A6, MECP2, NHS, HPRT1, PTEN, UBE3A, FMR1
Specificity
3 %
Genes
38 %
|
Epilepsy NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B , (...)
View the complete list with 323 more genes
EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B, SCN3B, SCN2B, GLI3, GNPTG, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, NODAL, ABCB1, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, VANGL1, CLCN2, CCL2, SPRED1, NEU1, CLCNKA, KAT6B, PEX5, PEX12, PEX26, PEX3, PEX14, FUCA1, PEX6, GRIA3, SYP, PHF6, FGD1, ATRX, SMS, OFD1, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, PIGV, GRIN1, NRXN1, SCN8A, MAGI2, KMT2D, MFSD8, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, PRRT2, TBC1D24, SCN5A, SCARB2, KCNMA1, MBD5, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, HCN1, GRIN2B, GABRD, FOLR1, SCN2A, SCN1B, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GABRB3, LGI1, EFHC1, CHRNB2, CACNA1H, ATP1A2, ASPM, MCPH1, LARGE1, LAMA2, CACNB4, KCNA1, POMT1, POMT2, VRK1, KCNJ1, CLCNKB, CASR, FGF8, KCNJ11, NF1, CACNA1A, SCN4A, FKRP, NOTCH3, AHI1, SCN1A, CSTB, EIF2B4, EIF2B2, EIF2B3, TMEM216, DPYD, PLA2G6, EIF2B5, CLN5, ABCC8, SUMF1, SLC17A5, POMGNT1, PEX1, MCOLN1, MLC1, PEX7, PPT1, PEX2, FKTN, CLN8, CLN6, GPC3, PTCH1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, TSC2, MAP2K2, WDR62, SOS1, SLC2A1, SHOC2, RAI1, PTPN11, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IDUA, IDS, HRAS, FOXG1, EIF2B1, CDKL5, BRAF, ARX, ASPA, ARSA, FGFR3, HPD, MOGS, DPAGT1, DOLK, ARSB, AGA, SDHA, TACO1, CLN3, TPP1, APTX, PMM2, MGAT2, LRPPRC, GCDH, ETFDH, ETFA, ETFB, L2HGDH, ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, SLC25A15, ALDH4A1, GALC, NDUFV1, NDUFS1, NDUFA1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, NDUFS3, NDUFS7, NDUFS8, COX15, NDUFA2, CTSA, QDPR, ALDH7A1, SLC35C1, HEXB, ALDH5A1, SUOX, HEXA, SLC9A6, PDHA1, ALG3, MPI, ALG6, SLC35A1, SCO2, AMT, GLDC, GCSH, B4GALT1, ALG12, COQ2, ALG2, ALG8, ALG1, ATIC, ALG9, COG7, DPM1, MPDU1, SLC25A22, CTSD, KCNV2, COG8, COG1, RARS2, TUBA1A, RFT1, COQ8A, STXBP1, GATM, GAMT, DPM3, ABAT, TMEM70, PDSS1, PDSS2, COQ9, MECP2, SMPD1, FH, RAF1, PANK2, SLC25A19, NDUFS4, POLG, DLD, SHH, CEP290, ADGRV1, NPHP1, TMEM67, HSD17B10, GNE, ATP6V0A2, PRODH, CC2D2A, GLB1, GNPTAB, PSAP, CPT2, PAX6, ADSL, C12orf65, BCS1L, ATPAF2, BTD, ARG1, PC, UBE3A, MTHFR
Specificity
3 %
Genes
100 %
|
Intellectual Disability NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
AQP7, TPH2, AFP, XIST, SNIP1, ZBTB24, GLUL, DIP2B, KCNK9, UPB1, CEP57, FTO, ZBTB16, TMCO1, IRX5, AGT, IGF1R, MRAP, HDAC4, IGF1 , (...)
View the complete list with 372 more genes
AQP7, TPH2, AFP, XIST, SNIP1, ZBTB24, GLUL, DIP2B, KCNK9, UPB1, CEP57, FTO, ZBTB16, TMCO1, IRX5, AGT, IGF1R, MRAP, HDAC4, IGF1, GLRA1, SLC5A2, TRHR, FAM126A, HOXD10, NGF, AVP, AP1S1, BUB1B, WDR81, UROC1, ERCC5, CAMTA1, CEP41, KIF7, RPGRIP1L, SLC6A4, SATB2, CP, SLX4, ABCG5, FANCG, GNAS, NHP2, CTC1, GNPAT, EFNB1, ALX4, THRB, LHX3, PGK1, KIF11, AP4M1, AP4E1, AP4B1, AP4S1, ADAR, ARID1A, SMARCB1, SMARCA4, ERCC6, SDCCAG8, SLC4A4, LYST, GAN, GLI3, GNPTG, ABCC6, FBN2, NAGA, PCNT, ZIC2, TGIF1, NSUN2, TWIST1, IL1RAPL1, ARHGEF6, NSDHL, SOX3, SLC16A2, BRWD3, ZDHHC9, RAB40AL, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, USP9X, UPF3B, UBE2A, TSPAN7, EBP, DLG3, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HUWE1, IGBP1, PHF8, CANT1, NLGN3, CTNNB1, ARID1B, AP1S2, EHMT1, FOXP1, KIRREL3, SOX10, ERCC3, ERCC2, SHANK2, SHANK3, LBR, TBX1, GFAP, VPS13B, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, KDM5C, PAK3, GRIA3, SYP, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, KCNJ10, SAMHD1, SPTAN1, PIGV, DYRK1A, GRIN1, NRXN1, SCN8A, ST3GAL3, ATP13A2, MFSD8, TUBB2B, SRPX2, PAFAH1B1, TUBA8, PQBP1, PIGO, TBC1D24, MBD5, GRIN2A, GABRG2, CHRNA4, KCNQ2, GRIN2B, PRICKLE1, KCTD7, CPA6, ATP1A2, ASPM, MCPH1, ITGA7, LARGE1, LAMA2, FGF14, GRM1, SIL1, SYT14, POMT1, POMT2, DYNC1H1, BIN1, KIF1A, L1CAM, KIF5A, AVPR2, GHR, POU1F1, KCNJ11, FGFR1, NF1, FKRP, AHI1, MAPT, SCN1A, ZFYVE26, ATL1, SPTLC1, MPZ, TMEM216, DPYD, RAPSN, PLA2G6, POMGNT1, MCOLN1, TH, SACS, SLC7A7, SGCA, PEX7, FKTN, PRKAR1A, BRIP1, CDKN1C, NBN, ATM, NIPBL, TSC1, SMC1A, SYNGAP1, TSC2, HDAC8, FGFR2, WDR62, TINF2, SLC2A1, RAI1, PTPN11, PLP1, PCDH19, NPC2, NPC1, MEF2C, KRAS, IDS, FOXG1, DMD, DHCR7, CHD7, CDKL5, GBA, ARX, AR, FGFR3, TSHR, HPD, PDHX, MTFMT, SLC6A8, KIF21A, PPOX, CLN3, SOX2, BBS9, MGAT2, CYP27A1, ASS1, GLYCTK, GALE, GBE1, CBS, SLC25A15, ALDH4A1, SUCLG1, MAN2B1, MANBA, DBT, CYB5R3, NDUFAF5, NDUFS1, NDUFA1, MOCS2, SGSH, GUSB, CTSA, PAH, ACOX1, SLC35C1, HEXB, GM2A, LMBRD1, MMADHC, ABCD1, SLC9A6, AMER1, ACSL4, AIFM1, D2HGDH, STRA6, MYO7A, MPI, ALG6, ALG12, AP3B1, COG7, GFM1, HAX1, TUSC3, DARS2, TUBA1A, STXBP1, SPR, GAMT, SLC25A12, PHKG2, PYGL, XPNPEP3, PHKA2, TMEM70, ALDH18A1, PDSS1, FBN1, MECP2, SLC25A13, GCK, HSPD1, CEP290, MKKS, NPHP3, TMEM67, NDP, ELOVL4, HSD17B10, SRD5A3, CC2D2A, GNPTAB, PYCR1, ACY1, TBCE, SLC5A5, WRN, ORC1, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, CDH15, SOBP, MED23, TECR, CACNG2, CRADD, MED17, CCDC88C, PDE4D, ZFP57, HEPACAM, PIGL, TTC37, GSS, STAT5B, LIG4, NHEJ1, G6PC3, STX11, ERCC8, INSR, MYO5A, DHCR24, RFX6, SLC2A2, APOB, MAT1A, SLC20A2, TPK1, SLC46A1, TMEM165, COG5, ALG11, VLDLR, MYCN, RBBP8, CPS1, MTR, TUBB3, PAX6, COL1A2, LRP5, FBLN5, ADSL, BCS1L, AUH, ATP7A, ARG1, GYS2, ACAT1, AGL, MCCC2, MCCC1, PTEN, UBE3A, TTR, MTHFR, FMR1, F5, BRCA2
Specificity
2 %
Genes
50 %
|
Migraine NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
PNPO, KCNQ2, FOLR1, ATP1A2, CACNA1A, SCN1A, PHGDH, PPT1, SLC2A1, PCDH19, FOXG1, CDKL5, ARX, ALDH7A1, STXBP1, GAMT, MECP2, POLG
Specificity
17 %
Genes
38 %
|
Nuclear-Mito NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
CNR1, CHDH, CLYBL, NIPSNAP3A, IDE, IMMT, LETM1, MAVS, RAB11FIP5, POLRMT, PTGES2, PPARGC1A, AS3MT, ACSM3, ACSL5, DMAC2, ATP10D, NDUFB1, HK2, ECI1 , (...)
View the complete list with 484 more genes
CNR1, CHDH, CLYBL, NIPSNAP3A, IDE, IMMT, LETM1, MAVS, RAB11FIP5, POLRMT, PTGES2, PPARGC1A, AS3MT, ACSM3, ACSL5, DMAC2, ATP10D, NDUFB1, HK2, ECI1, ECSIT, GLS, NDUFA6, HSD3B1, HSPB7, HIGD2A, GLO1, GAD2, H6PD, SHMT1, FPGS, MTHFD1L, MTHFS, MDH1, TPH2, TOMM40, ACHE, ARMS2, BCAT1, BCAT2, HSPA9, TIMM44, MTHFD1, TXN2, PARP1, COQ5, NDUFA4, FASN, CDC42BPB, DISC1, MOCOS, NDUFB9, GPX4, ABCD3, DECR1, PCK1, BCL2, NOS3, GLRA1, NTHL1, PEX11B, FTH1, SLC27A4, COA5, PMPCA, COQ4, AAAS, CLCN5, MED23, PREPL, HOGA1, TPI1, AKT1, INSR, IDH1, AKT2, HADH, DDC, EARS2, SCO1, COX10, NDUFB6, NDUFV3, NDUFA7, NDUFA8, COX4I1, MARS2, NDUFS5, MRRF, TFB1M, ACACB, IMMP2L, TXNRD2, GNAS, GNPAT, PGK1, TFAM, RSPH9, KCNE2, RYR2, ANK2, ABCC9, CLCN2, UROS, PKLR, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, NARS2, PEX6, KCNQ1, KCNE1, LARS2, SLC19A2, NRXN1, CACNA2D1, MFSD8, DNAJC5, SCN5A, CHRNA4, KCNQ3, KCNQ2, FOLR1, SCN2A, SCN1B, KCNH2, CHRNB2, TDP1, KCNA1, KCNJ2, RYR1, CACNA1S, SPART, SPAST, CLCNKB, PDX1, KCNJ11, LRRK2, CACNA1A, ATXN7, SCN4A, CLCN1, SCN1A, GDAP1, CLN5, ABCC8, PEX1, SACS, PEX7, PPT1, PEX2, CYBB, G6PD, CLN8, CLN6, SDHD, SLC2A1, DMPK, FOXG1, CDKL5, CFTR, CPT1B, MOGS, SUGCT, SDHA, PDHX, MTFMT, SLC6A8, HARS2, FARS2, TACO1, PHB, AKAP10, PNKD, CPOX, GPD2, MEN1, WWOX, OGG1, PPOX, FECH, SLC22A4, ANKRD26, CLN3, TPP1, GLRX5, SLC25A38, APTX, PRKN, SLC25A20, SLC22A5, CYP27A1, ASS1, SLC3A1, COX6B1, FASTKD2, LRPPRC, GLYCTK, FXN, GCDH, ETFDH, ETFA, ETFB, CYBA, HK1, L2HGDH, NAGS, SLC25A15, PNMT, PAK5, PACRG, NLRX1, NDUFC2, ACLY, PARL, KYNU, TSPO, FAAH, GPAM, ENO1, COX7A2, DDAH1, MAOB, BAX, MRPL48, MTCH2, AKR7A2, AGXT2, MGST3, MGLL, NPL, CKM, NIPSNAP1, USP24, TOP1MT, TST, SIRT3, SIRT1, SLC25A39, SIRT5, ALDH4A1, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, DBT, HIBCH, CYB5A, CYB5R3, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, MOCS1, MOCS2, CHAT, CPT1A, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, NME1, OAT, TCIRG1, AGXT, PAH, QDPR, PTS, PGAM2, CYP27B1, ALDH7A1, PHYH, AK2, SARDH, ALDH3A2, ALDH5A1, SUOX, MMADHC, ABCD1, ACSL4, MAOA, AIFM1, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, OTC, AGPS, PUS1, D2HGDH, RNASEL, PPARGC1B, UCP3, UCP1, ETHE1, TYMP, GAD1, SCO2, TAP1, CISD2, DMGDH, AMT, GLDC, GCSH, HMGCS2, PCCA, PCCB, GLUD1, SPG7, COQ2, UCP2, NDUFA13, UNG, ATIC, PDP1, HADHB, GFM1, SLC25A22, TK2, SECISBP2, ACADSB, CTSD, POLG2, DNAJC19, REEP1, ALDH2, HTRA2, MRPS16, TSFM, TUFM, SLC25A3, DARS2, ACAD8, RARS2, GYS1, MRPS22, CYCS, SUCLA2, SDHB, RPL35A, COX4I2, SPR, GATM, ENO3, LDHA, SLC25A12, TMEM126A, GFER, ABAT, GPI, SPTLC2, KARS, IDH2, SCP2, CYP11A1, CYP24A1, G6PC, NUBPL, NDUFA10, TAT, XPNPEP3, MTPAP, TTC19, HSD3B2, HMGCL, NDUFAF1, PCK2, NFU1, SARS2, TMEM70, ACAT2, ALDH6A1, PDHB, LDHB, DIABLO, GPX1, ACSF3, BOLA3, DGUOK, DNM1L, ALDH18A1, AGK, COX14, NDUFA9, GPD1, NDUFB3, LIAS, HARS, DHODH, IDH3B, NDUFA12, ACO2, MRPL3, COQ6, PDSS1, PDSS2, COQ9, MTO1, CYP11B2, MECP2, FH, OPA3, HADHA, PANK2, SDHC, MFN2, SLC25A13, ALAS2, KIF1B, NDUFAF2, RRM2B, FOXRED1, CYP11B1, AFG3L2, GARS, GCK, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, FOXC1, HSD17B10, PRODH, COMT, WFS1, DTNBP1, CLCN7, PYCR1, CASP8, TRMU, ABCB6, KRT5, OPA1, CPT2, CPS1, HSD17B4, AMACR, MTRR, SLC16A1, ELN, SDHAF2, ELAC2, STAR, MMACHC, ADSL, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATPAF2, ATP8B1, ATP7B, ATP5F1E, HLCS, UQCRB, UQCRQ, GYS2, PC, FBP1, YARS2, ACAT1, ACADVL, ACADS, ACADM, ACADL, ACAD9, ACACA, AARS2, MCCC2, MCCC1, TP53, MUTYH, UBE3A, HTT
Specificity
1 %
Genes
38 %
|
Hemiplegia/Stroke NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
COL4A2, COL4A1, ATP1A3, ATP1A2, CACNA1A, NOTCH3, SCN1A, SLC2A1, OTC, POLG
Specificity
10 %
Genes
13 %
|
SCN1A.
By Fulgent Genetics Fulgent Genetics in United States.
SCN1A
Specificity
100 %
Genes
13 %
|
Essential Epilepsy NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
MAPK10, ACY1, TREX1, ZEB2, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ROGDI, ST3GAL3, GNAO1, SZT2 , (...)
View the complete list with 50 more genes
MAPK10, ACY1, TREX1, ZEB2, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, NRXN1, SCN8A, ROGDI, ST3GAL3, GNAO1, SZT2, KCNB1, SIK1, DNM1, KCNA2, PRRT2, DEPDC5, TBC1D24, ALG13, MBD5, GRIN2A, GABRG2, GABRA1, CHD2, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, FOLR1, SLC35A2, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, GABRB3, LGI1, CHRNB2, SCN1A, TSC1, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, ALDH7A1, SLC9A6, SLC25A22, STXBP1, GAMT, MECP2, POLG, ADSL, UBE3A
Specificity
12 %
Genes
100 %
|
Idiopathic Generalized Epilepsy NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
NIPA2, CNTN2, DHFR, CLCN2, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, ATRX, OFD1 , (...)
View the complete list with 69 more genes
NIPA2, CNTN2, DHFR, CLCN2, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, ATRX, OFD1, CNTNAP2, TCF4, KCNJ10, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, DNAJC5, SRPX2, PQBP1, DCX, PRRT2, DEPDC5, TBC1D24, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, KCNC1, KCNQ3, KCNQ2, KCNT1, GABRD, STX1B, SCN2A, SCN1B, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, CACNB4, DYNC1H1, CASR, CACNA1A, SCN1A, CSTB, GPC3, SMC1A, SYNGAP1, SLC2A1, PLP1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, ALDH7A1, SLC9A6, STXBP1, MECP2, ME2, HSD17B10, ADSL, UBE3A
Specificity
9 %
Genes
100 %
|
Early-Onset Epileptic Encephalopathy NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
RBFOX3, KPNA7, ARHGEF15, HCN2, TNK2, SLC12A5, ACY1, KCNH5, MTOR, NEDD4L, CLCN4, ZEB2, ATP6AP2, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP , (...)
View the complete list with 113 more genes
RBFOX3, KPNA7, ARHGEF15, HCN2, TNK2, SLC12A5, ACY1, KCNH5, MTOR, NEDD4L, CLCN4, ZEB2, ATP6AP2, SYN1, ARHGEF9, IQSEC2, CNTNAP2, TCF4, KCNJ10, PNKP, SPTAN1, PLCB1, PIGV, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NR2F1, SLC13A5, KCNB1, SIK1, DNM1, EEF1A2, HNRNPU, MAGI2, CACNA2D2, RBFOX1, MFSD8, DNAJC5, CTSF, SRPX2, QARS, ARFGEF2, BCKDK, PIGO, PRRT2, DEPDC5, TBC1D24, ALG13, SCN5A, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC35A2, STX1B, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE1, KCNH2, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, ATP1A2, CACNB4, DYNC1H1, CACNA1A, SCN1A, CSTB, CLN5, PPT1, CLN8, CLN6, TSC1, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CHRNA7, CDKL5, ARX, SLC6A8, FARS2, WWOX, CLN3, TPP1, ALDH7A1, SLC9A6, SLC25A22, CTSD, STXBP1, GATM, GAMT, SLC25A12, LIAS, MECP2, POLG, ADGRV1, ADSL, AUH, UBE3A
Specificity
7 %
Genes
100 %
|
Comprehensive Epilepsy NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5 , (...)
View the complete list with 427 more genes
RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5, HDAC4, SLC6A5, GLRA1, GLRB, DHFR, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, KCNH5, C12orf57, ANK3, MED17, CCDC88C, SNAP29, ASNS, LIG4, NHEJ1, AKT3, SLC46A1, COX10, ARL13B, RPGRIP1L, PGK1, ADAR, SMARCA2, KDM6A, SCN4B, SCN3B, SCN2B, GLI3, GNPTG, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, NODAL, ABCB1, CEP152, ZIC2, TGIF1, TUBB2A, TSEN2, TSEN34, VANGL1, MTOR, NEDD4L, CLCN2, CCL2, SPRED1, CLCN4, UBE2A, NEU1, CLCNKA, KAT6B, PEX5, PEX12, PEX26, PEX3, PEX14, MED12, NTNG1, FUCA1, PEX6, ATP2A2, LBR, TBX1, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ALG13, SLC4A10, SCN5A, SCARB2, KCNMA1, MBD5, HCN4, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRD, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCNH2, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, CRH, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A2, ASPM, MCPH1, LARGE1, DPM2, LAMA2, SLC1A3, CACNB4, KCNA1, POMT1, POMT2, VRK1, DYNC1H1, KCNJ1, CLCNKB, CASR, FGF8, KCNJ11, NF1, CACNA1A, SCN4A, FKRP, NOTCH3, AHI1, SCN1A, CSTB, EIF2B4, EIF2B2, EIF2B3, TMEM216, DPYD, PLA2G6, EIF2B5, CLN5, ABCC8, SUMF1, SLC17A5, POMGNT1, PEX1, MCOLN1, MLC1, PEX7, PPT1, PEX2, FKTN, CLN8, CLN6, HNRNPH1, KCNAB2, GPC3, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, TSC2, MAP2K2, WDR62, SOS1, SLC2A1, SHOC2, RAI1, PTPN11, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IDUA, IDS, HRAS, FOXG1, EIF2B1, DHCR7, CHRNA7, CDKL5, BRAF, ARX, ASPA, ARSA, FGFR3, HPD, MOGS, DPAGT1, DOLK, ARSB, AGA, SDHA, SLC6A8, FARS2, TACO1, WWOX, CLN3, TPP1, APTX, PMM2, MGAT2, LRPPRC, GCDH, ETFDH, ETFA, ETFB, L2HGDH, SLC25A15, ALDH4A1, GALC, NDUFV1, NDUFS1, NDUFA1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, CTSA, QDPR, ALDH7A1, SLC35C1, HEXB, ALDH5A1, SUOX, HEXA, SLC9A6, PDHA1, ALG3, MPI, ALG6, SLC35A1, SCO2, AMT, GLDC, GCSH, GLUD1, B4GALT1, ALG12, COQ2, GRN, ALG2, ALG8, ALG1, ATIC, ALG9, COG7, DPM1, MPDU1, SLC25A22, CTSD, KCNV2, COG8, COG1, RARS2, TUBA1A, RFT1, COQ8A, STXBP1, GATM, GAMT, DPM3, SLC25A12, ABAT, TMEM70, BOLA3, LIAS, PDSS1, PDSS2, COQ9, MECP2, SMPD1, FH, RAF1, PANK2, SLC25A19, NDUFS4, POLG, DLD, ME2, SHH, CEP290, ADGRV1, NPHP1, TMEM67, HSD17B10, GNE, ATP6V0A2, PRODH, CC2D2A, GLB1, GNPTAB, SERPINI1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, PIGV, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, KANSL1, ST3GAL3, WDR45, GNAO1, SZT2, NEXMIF, NR2F1, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, TBL1XR1, HNRNPU, MAGI2, CACNA2D2, RBFOX1, KMT2D, ATP13A2, MFSD8, DNAJC5, CTSF, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, PSAP, CPT2, AMACR, PAX6, ADSL, C12orf65, TWNK, BCS1L, AUH, ATPAF2, BTD, ARG1, PC, UBE3A, MTHFR
Specificity
2 %
Genes
100 %
|
Epileptic Encephalopathy Panel.
By Blueprint Genetics in Finland.
TBCK, RMND1, MRPL44, GTPBP3, HECW2, LYRM7, NACC1, UNC80, FAR1, GPHN, SLC12A5, APOPT1, FGF12, ECHS1, UBA5, TBCD, SERAC1, TBCE, SLC25A1, ASNS , (...)
View the complete list with 108 more genes
TBCK, RMND1, MRPL44, GTPBP3, HECW2, LYRM7, NACC1, UNC80, FAR1, GPHN, SLC12A5, APOPT1, FGF12, ECHS1, UBA5, TBCD, SERAC1, TBCE, SLC25A1, ASNS, HEPACAM, SCO1, ADAR, NECAP1, CLCN4, TREX1, ZEB2, CASK, SYN1, ARHGEF9, CNTNAP2, RNASEH2B, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, GNAO1, SZT2, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, HNRNPU, FLNA, DCX, BRAT1, TBC1D24, ALG13, MBD5, GRIN2A, GABRG2, GABRA1, CHD2, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRB2, SLC35A2, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, GABRB3, KIF1A, CACNA1A, SCN1A, TSC1, SYNGAP1, TSC2, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, MTFMT, SLC6A8, FARS2, WWOX, COX6B1, LRPPRC, HIBCH, NDUFS2, NDUFV1, SDHAF1, MOCS1, NDUFAF6, NDUFS7, NDUFS8, ALDH7A1, SLC9A6, D2HGDH, ETHE1, AMT, GLDC, SLC25A22, STXBP1, GAMT, ABAT, NUBPL, TTC19, DNM1L, MECP2, NDUFS4, POLG, CPT2, ADSL, UBE3A, MTHFR, HTT
Specificity
6 %
Genes
88 %
|
Migraine Panel.
By Blueprint Genetics in Finland.
KCNK18, PRRT2, ATP1A3, ATP1A2, SLC1A3, CACNA1A, NOTCH3, SCN1A, SLC2A1, POLG
Specificity
10 %
Genes
13 %
|
Comprehensive Epilepsy Panel.
By Blueprint Genetics in Finland.
SNORD118, SLC39A8, YY1, TBCK, RMND1, MRPL44, GTPBP3, HECW2, WDR26, LYRM7, DARS, KCNH1, NACC1, DPYS, UNC80, FAR1, AIMP1, ECM1, GPHN, PIGT , (...)
View the complete list with 263 more genes
SNORD118, SLC39A8, YY1, TBCK, RMND1, MRPL44, GTPBP3, HECW2, WDR26, LYRM7, DARS, KCNH1, NACC1, DPYS, UNC80, FAR1, AIMP1, ECM1, GPHN, PIGT, SLC12A5, GLRB, DHFR, FAM126A, CERS1, APOPT1, POLR3B, POLR3A, LMNB1, FGF12, RNF216, RARS, ECHS1, GNB1, UBA5, TBCD, SERAC1, TBCE, PYCR2, CC2D1A, GRIK2, SLC25A1, IBA57, ASNS, HEPACAM, DDC, EARS2, SLC46A1, CSF1R, SCO1, MARS2, CTC1, RNASET2, PGK1, AP4M1, AP4E1, AP4B1, AP4S1, ADAR, TUBB4A, HACE1, MTOR, CLCN2, NECAP1, CLCN4, TAF1, UBE2A, NEU1, MED12, SOX10, HTRA1, VPS13A, GFAP, TREX1, ZEB2, RAB39B, CUL4B, CASK, OPHN1, SYN1, KDM5C, ARHGEF9, GRIA3, PHF6, IQSEC2, ATRX, SMS, OFD1, SERPINI1, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, PIGV, PIGN, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, GNAO1, SZT2, DOCK7, SLC13A5, KCNB1, PURA, SNAP25, SIK1, DNM1, KCNA2, EEF1A2, SPATA5, TBL1XR1, HNRNPU, MAGI2, ATP13A2, MFSD8, DNAJC5, CTSF, FLNA, RELN, DCX, COL4A1, PIGO, BRAT1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, ALG13, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GRIN2B, GABRB2, FOLR1, SLC6A1, SLC35A2, STX1B, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CHRNB2, CACNA1H, ATP1A3, CACNB4, KCNA1, FA2H, KIF1A, CASR, GCH1, CACNA1A, NOTCH3, SCN1A, CSTB, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, DPYD, EIF2B5, CLN5, SUMF1, MLC1, PPT1, CLN8, CLN6, TSC1, SYNGAP1, TSC2, SLC2A1, PLP1, PCDH19, MEF2C, GJC2, FOXG1, EIF2B1, CDKL5, ARX, ASPA, ARSA, AGA, MTFMT, SLC6A8, FARS2, WWOX, CLN3, TPP1, CYP27A1, COX6B1, LRPPRC, GCDH, ETFDH, ETFA, ETFB, L2HGDH, SLC25A15, GALC, HIBCH, NDUFAF5, NDUFS2, NDUFV1, SDHAF1, MOCS1, NDUFAF6, NDUFS7, NDUFS8, COX15, QDPR, PTS, ALDH7A1, ALDH3A2, ALDH5A1, SUOX, ABCD1, SLC9A6, AIFM1, D2HGDH, ETHE1, AMT, GLDC, GRN, GFM1, SLC25A22, CTSD, DARS2, STXBP1, GAMT, ABAT, NUBPL, TTC19, NFU1, DNM1L, MECP2, FH, FOXRED1, AFG3L2, HSPD1, NDUFS4, POLG, HSD17B10, GNE, PRODH, GLB1, PSAP, CPT2, AMACR, ADSL, BTD, ARG1, UBE3A, MTHFR, HTT
Specificity
3 %
Genes
100 %
|
Idiopathic Generalized and Focal Epilepsy Panel.
By Blueprint Genetics in Finland.
MTOR, CLCN2, SCN8A, RELN, PRRT2, DEPDC5, TBC1D24, GRIN2A, GABRG2, GABRA1, CHRNA4, CHRNA2, KCNC1, KCNQ3, KCNQ2, KCNT1, SLC6A1, STX1B, SCN2A, SCN1B , (...)
View the complete list with 14 more genes
MTOR, CLCN2, SCN8A, RELN, PRRT2, DEPDC5, TBC1D24, GRIN2A, GABRG2, GABRA1, CHRNA4, CHRNA2, KCNC1, KCNQ3, KCNQ2, KCNT1, SLC6A1, STX1B, SCN2A, SCN1B, SCN9A, GABRB3, LGI1, EFHC1, CHRNB2, CACNA1H, CACNB4, KCNA1, CASR, SCN1A, SLC2A1, ALDH7A1, POLG, AMACR
Specificity
18 %
Genes
75 %
|
Generalized Epilepsy with Febrile Seizures Plus (GEFS+) type II.
By Bioarray in Spain.
SCN1A
Specificity
100 %
Genes
13 %
|
Dravet syndrome.
By Bioarray in Spain.
SCN1A
Specificity
100 %
Genes
13 %
|
Familial hemiplegic migraine type 3.
By Bioarray in Spain.
SCN1A
Specificity
100 %
Genes
13 %
|
Epileptic encephalopathy, early infantile type VI.
By Bioarray in Spain.
SCN1A
Specificity
100 %
Genes
13 %
|
SCN1A Gene Sequencing and Deletion/Duplication Analysis.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.
SCN1A
Specificity
100 %
Genes
13 %
|
Rapid microarray (CGH and SNP).
By Allele Diagnostics Allele Diagnostics in United States.
CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK , (...)
View the complete list with 153 more genes
CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK, EXT2, VLDLR, MYCN, ZIC3, F8, F9, EFNB1, TBX5, SALL4, ALX4, LHX4, KCNQ1OT1, NR5A1, SH2D1A, NKX2-5, DOCK8, ACVRL1, MITF, GLI3, ZIC2, TGIF1, SOX9, TWIST1, MSX2, IL1RAPL1, NSDHL, SOX3, FTSJ1, PHF8, EHMT1, FOXP1, FOXP2, MID1, OTOA, GATA3, FGF3, SOX10, EDNRB, PAX3, COL4A6, SALL1, SHANK2, TBX1, VPS13B, ZEB2, CASK, OPHN1, GRIA3, FGD1, CNTNAP2, TCF4, NRXN1, MAGI2, PDCD10, CCM2, KRIT1, ADGRG1, PAFAH1B1, SIX3, DCX, MBD5, KCNQ2, SCN2A, LARGE1, EMD, MTM1, PKD1, COL4A5, GHR, ANOS1, SHOX, NR0B1, SGCE, NF1, GCH1, SCN1A, PMP22, BTK, ABCC8, CYBB, CTNS, ENG, SMAD4, BMPR1A, GPC3, SDHD, STK11, NF2, PTCH1, NSD1, NIPBL, TSC1, SYNGAP1, TSC2, SRY, SLC2A1, RUNX2, RPS19, RAI1, PORCN, PLP1, PCDH19, MEF2C, GJB6, FOXG1, DMD, CREBBP, CHD7, CDKL5, ARSA, AR, LMX1B, SOX2, APTX, SLC3A1, BCOR, AMER1, TIMM8A, GK, HCCS, OTC, TUSC3, STXBP1, SDHB, FBN1, MECP2, SHH, ADGRV1, NPHP1, HPRT1, NDP, JAG1, PITX2, OCRL, ELN, RET, HNF1B, RB1, CHM, PAX6, WT1, OCA2, EYA1, HBB, FOXL2, ATP7A, USH1C, TP53, PTEN, APC, VHL, UBE3A, FMR1
Specificity
3 %
Genes
50 %
|
High-Resolution Rapid Microarray (CGH and SNP).
By Allele Diagnostics Allele Diagnostics in United States.
CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK , (...)
View the complete list with 153 more genes
CRK, SEM1, IGF2, FBXW4, YWHAE, TBX3, HDAC4, TRPS1, STS, GRIK2, FLI1, PREPL, MAMLD1, ARSE, IRF6, CCNQ, MNX1, NFIA, EDA, XK, EXT2, VLDLR, MYCN, ZIC3, F8, F9, EFNB1, TBX5, SALL4, ALX4, LHX4, KCNQ1OT1, NR5A1, SH2D1A, NKX2-5, DOCK8, ACVRL1, MITF, GLI3, ZIC2, TGIF1, SOX9, TWIST1, MSX2, IL1RAPL1, NSDHL, SOX3, FTSJ1, PHF8, EHMT1, FOXP1, FOXP2, MID1, OTOA, GATA3, FGF3, SOX10, EDNRB, PAX3, COL4A6, SALL1, SHANK2, TBX1, VPS13B, ZEB2, CASK, OPHN1, GRIA3, FGD1, NRXN1, MAGI2, PDCD10, CCM2, KRIT1, ADGRG1, PAFAH1B1, SIX3, DCX, MBD5, KCNQ2, SCN2A, LARGE1, EMD, MTM1, PKD1, COL4A5, GHR, ANOS1, SHOX, NR0B1, SGCE, NF1, GCH1, SCN1A, PMP22, BTK, ABCC8, CYBB, CTNS, ENG, SMAD4, BMPR1A, GPC3, SDHD, STK11, NF2, PTCH1, NSD1, NIPBL, TSC1, SYNGAP1, TSC2, SRY, SLC2A1, RUNX2, RPS19, RAI1, PORCN, PLP1, PCDH19, MEF2C, GJB6, FOXG1, DMD, CREBBP, CHD7, CDKL5, ARSA, AR, LMX1B, SOX2, APTX, SLC3A1, BCOR, AMER1, TIMM8A, GK, HCCS, OTC, TUSC3, STXBP1, SDHB, FBN1, MECP2, SHH, ADGRV1, NPHP1, CNTNAP2, TCF4, HPRT1, NDP, JAG1, PITX2, OCRL, ELN, RET, HNF1B, RB1, CHM, PAX6, WT1, OCA2, EYA1, HBB, FOXL2, ATP7A, USH1C, TP53, PTEN, APC, VHL, UBE3A, FMR1
Specificity
3 %
Genes
50 %
|
Next Generation Sequencing for FHM, EA2, SCA6, CADASIL, Epilepsy.
By Genomics Research Centre Diagnostics Clinic Queensland Unstitute of Technology in Australia.
ATP1A2, CACNA1A, NOTCH3, SCN1A
Specificity
25 %
Genes
13 %
|
EPILEPSY GENERALIZED WITH FEBRILE SEIZURES PLUS.
By Laboratorio de Genetica Clinica SL in Spain.
GABRG2, SCN9A, SCN1A
Specificity
100 %
Genes
38 %
|
SEVERE MYOCLONIC EPILEPSY OF INFANCY (DRAVET SYNDROME).
By Laboratorio de Genetica Clinica SL in Spain.
SCN1A
Specificity
100 %
Genes
13 %
|
INFANTILE EPILEPTIC ENCEPHALOPATHYL: NGS PANEL.
By Laboratorio de Genetica Clinica SL in Spain.
NECAP1, ARHGEF9, PNKP, SPTAN1, PLCB1, SCN8A, GNAO1, SLC13A5, KCNB1, KCNQ2, HCN1, SCN2A, SCN1A, PCDH19, CDKL5, ARX, SLC25A22, STXBP1
Specificity
23 %
Genes
50 %
|
Severe Myoclonic Epilepsy (Dravet's Syndrome), Sequencing SCN1A Gene.
By Reference Laboratory Genetics in Spain.
SCN1A
Specificity
100 %
Genes
13 %
|
Familial Hemiplegic Migraine Type 3 , Sequencing SCN1A Gene.
By Reference Laboratory Genetics in Spain.
SCN1A
Specificity
100 %
Genes
13 %
|
Severe Myoclonic Epilepsy (Dravet Syndrome) , Deletions-Duplications (MLPA) SCN1A Gene.
By Reference Laboratory Genetics in Spain.
SCN1A
Specificity
100 %
Genes
13 %
|
Generalized Epilepsy with Febrile Seizures Plus Type 2, Sequencing SCN1A Gene.
By Reference Laboratory Genetics in Spain.
SCN1A
Specificity
100 %
Genes
13 %
|
Familial Epilepsy and Related Disorders , Panel Massive Sequencing (NGS) 34 Genes.
By Reference Laboratory Genetics in Spain.
CLCN2, SCN8A, SRPX2, PRRT2, KCNMA1, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, KCNQ3, KCNQ2, GABRD, SCN2A, SCN1B, SCN9A, NHLRC1, GABRB3, LGI1, EFHC1 , (...)
View the complete list with 14 more genes
CLCN2, SCN8A, SRPX2, PRRT2, KCNMA1, GABRG2, GABRA1, EPM2A, CHRNA4, CHRNA2, KCNQ3, KCNQ2, GABRD, SCN2A, SCN1B, SCN9A, NHLRC1, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A2, CACNB4, KCNA1, CACNA1A, SCN1A, SLC2A1, PCDH19, CDKL5, ARX, ALDH7A1, STXBP1
Specificity
24 %
Genes
100 %
|
Familial Hemiplegic Migraine , Panel Massive Sequencing (NGS) 6 Genes.
By Reference Laboratory Genetics in Spain.
ATP1A2, CACNA1A, NOTCH3, SCN1A, SLC2A1, POLG
Specificity
17 %
Genes
13 %
|
Generalized Epilepsy with Febrile Seizures Plus, Panel Massive Sequencing (NGS) 5 Genes.
By Reference Laboratory Genetics in Spain.
GABRG2, GABRD, SCN1B, SCN9A, SCN1A
Specificity
80 %
Genes
50 %
|
Severe Myoclonic Epilepsy (Dravet's Syndrome), Panel Massive Sequencing (NGS) 11 Genes.
By Reference Laboratory Genetics in Spain.
GABRG2, GABRA1, EPM2A, SCN2A, SCN1B, SCN9A, NHLRC1, EFHC1, CACNB4, SCN1A, PCDH19
Specificity
64 %
Genes
88 %
|
Early Infantile Epileptic Encephalopathy , Panel Massive Sequencing (NGS) 30 Genes.
By Reference Laboratory Genetics in Spain.
ITPA, AP3B2, SLC1A2, AARS, ARHGEF9, PNKP, SPTAN1, PLCB1, PIGA, SCN8A, ST3GAL3, DNM1, TBC1D24, ALG13, GABRA1, KCNQ2, HCN1, GRIN2B, SCN2A, SCN9A , (...)
View the complete list with 8 more genes
ITPA, AP3B2, SLC1A2, AARS, ARHGEF9, PNKP, SPTAN1, PLCB1, PIGA, SCN8A, ST3GAL3, DNM1, TBC1D24, ALG13, GABRA1, KCNQ2, HCN1, GRIN2B, SCN2A, SCN9A, GABRB3, CACNA1A, SCN1A, PCDH19, CDKL5, ARX, STXBP1, SLC25A12
Specificity
22 %
Genes
75 %
|
Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes.
By Reference Laboratory Genetics in Spain.
BDNF, SLC6A4, AUTS2, KLHL3, PDE10A, SATB2, SOX5, DPP6, SLC9A9, SNRPN, RPL10, NLGN3, NLGN4X, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2 , (...)
View the complete list with 57 more genes
BDNF, SLC6A4, AUTS2, KLHL3, PDE10A, SATB2, SOX5, DPP6, SLC9A9, SNRPN, RPL10, NLGN3, NLGN4X, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, PTCHD1, SHANK2, SHANK3, VPS13B, ZEB2, RAB39B, CASK, OPHN1, KDM5C, PHF6, FGD1, ATRX, CNTNAP2, TCF4, PNKP, ANKRD11, NRXN1, PAFAH1B1, RELN, PQBP1, MBD5, GRIN2B, FOLR1, SCN2A, GABRB3, L1CAM, SPAST, SCN1A, MET, NSD1, NIPBL, TSC1, SMC1A, TSC2, RAI1, PTPN11, PCDH19, MEF2C, FOXG1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, ARX, SLC9A6, MECP2, NHS, HPRT1, PTEN, UBE3A, FMR1
Specificity
4 %
Genes
38 %
|
Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes.
By Reference Laboratory Genetics in Spain.
CHRNA3, CHRNA5, GRIN2D, GLRA1, CHRNG, CACNA1D, ARHGEF9, PNKP, SPTAN1, PLCB1, PIGA, SCN8A, ST3GAL3, TBC1D24, GABRG2, GABRA1, CHRNA4, CHRNA2, KCNQ2, GABRD , (...)
View the complete list with 24 more genes
CHRNA3, CHRNA5, GRIN2D, GLRA1, CHRNG, CACNA1D, ARHGEF9, PNKP, SPTAN1, PLCB1, PIGA, SCN8A, ST3GAL3, TBC1D24, GABRG2, GABRA1, CHRNA4, CHRNA2, KCNQ2, GABRD, SCN2A, SCN1B, ST3GAL5, SCN9A, CHRNB2, CHRNB1, CHRND, CHRNA1, RYR1, CACNA1S, ATP2A1, CACNA1A, SCN4A, CLCN1, SCN1A, CHRNE, PCDH19, DMPK, CDKL5, ARX, GBE1, SLC25A22, STXBP1, GAA
Specificity
19 %
Genes
100 %
|
Generalized epilepsy with febrile seizures plus, type 2.
By Labor Dr. Wisplinghoff in Germany.
SCN1A
Specificity
100 %
Genes
13 %
|
PCDH19 Sequence Analysis.
By Baylor Miraca Genetics Laboratories in United States.
PCDH19
Specificity
100 %
Genes
13 %
|
PCDH19 Sequence Analysis (Familial Mutation/Variant Analysis).
By Baylor Miraca Genetics Laboratories in United States.
PCDH19
Specificity
100 %
Genes
13 %
|
PCDH19 Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories in United States.
PCDH19
Specificity
100 %
Genes
13 %
|
Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability.
By Athena Diagnostics Inc in United States.
GFAP, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, DYRK1A, WDR45 , (...)
View the complete list with 36 more genes
GFAP, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, DYRK1A, WDR45, NEXMIF, PURA, SNAP25, EEF1A2, SPATA5, SETD2, HNRNPU, RBFOX1, CACNA2D1, SRPX2, PQBP1, DCX, DEAF1, BCKDK, ALG13, GRIN2B, GABRB2, FOLR1, SLC35A2, DPYD, GPC3, SMC1A, PLP1, PCDH19, CHRNA7, CDKL5, ARX, SLC6A8, SLC9A6, ALG9, GATM, GAMT, ABAT, MECP2, HSD17B10, ADSL
Specificity
2 %
Genes
13 %
|
NGS XLID Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.
THOC2, CNKSR2, CDK16, CCDC22, CLCN4, FRMPD4, ZMYM3, ZCCHC12, WDR13, FAAH2, EIF2S3, LAS1L, GSPT2, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3 , (...)
View the complete list with 94 more genes
THOC2, CNKSR2, CDK16, CCDC22, CLCN4, FRMPD4, ZMYM3, ZCCHC12, WDR13, FAAH2, EIF2S3, LAS1L, GSPT2, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, ZC4H2, USP9X, UPF3B, UBE2A, TSPAN7, EBP, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, OGT, NLGN3, NLGN4X, AP1S2, MED12, MID1, PTCHD1, PRPS1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, NEXMIF, SRPX2, FLNA, PQBP1, DCX, MTM1, L1CAM, GPC3, SMC1A, HDAC8, PORCN, PLP1, PCDH19, IDS, DMD, CDKL5, ARX, NDUFA1, ABCD1, BCOR, SLC9A6, ACSL4, MAOA, AIFM1, TIMM8A, GK, HCCS, OTC, MECP2, NHS, HPRT1, NDP, OCRL, HSD17B10, ATP7A, FMR1
Specificity
1 %
Genes
13 %
|
Rett-Angelman Syndrome 2nd-Tier Sequencing Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.
CTNNB1, EHMT1, ZEB2, OPHN1, ATRX, CNTNAP2, TCF4, PNKP, NRXN1, PQBP1, MBD5, FOLR1, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC9A6, MECP2 , (...)
View the complete list with 1 more genes
CTNNB1, EHMT1, ZEB2, OPHN1, ATRX, CNTNAP2, TCF4, PNKP, NRXN1, PQBP1, MBD5, FOLR1, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC9A6, MECP2, UBE3A
Specificity
5 %
Genes
13 %
|
Epilepsy with Mental Retardation, Female Restricted (PCDH19).
By Center for Human Genetics, Inc in United States.
PCDH19
Specificity
100 %
Genes
13 %
|
Autism Spectrum Disorders 53-Gene Panel.
By Center for Human Genetics, Inc in United States.
CNTNAP5, DLGAP2, DPP10, DPP6, GRPR, PCDH9, SLC9A9, ASTN2, CADM1, CNTN4, CXCR3, FABP5, FABP7, FBXO40, GLRA2, HNRNPH2, MBD1, MBD3, MBD4, MDGA2 , (...)
View the complete list with 33 more genes
CNTNAP5, DLGAP2, DPP10, DPP6, GRPR, PCDH9, SLC9A9, ASTN2, CADM1, CNTN4, CXCR3, FABP5, FABP7, FBXO40, GLRA2, HNRNPH2, MBD1, MBD3, MBD4, MDGA2, NLGN1, NOS1AP, NRXN2, PCDH10, PDZD4, PPP1R3F, RIMS3, SH3KBP1, WNK3, FRMPD4, RPL10, TSPAN7, NLGN3, NLGN4X, FOXP1, PTCHD1, DIAPH3, SHANK2, SHANK3, RAB39B, SYN1, CNTNAP2, ANKRD11, NRXN1, KCNMA1, GRIN2A, GRIN2B, CACNA1H, SYNGAP1, PCDH19, MEF2C, MECP2, PTEN
Specificity
2 %
Genes
13 %
|
X-Linked Intellectual Disabilities Deletion/Duplication.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
PGK1, CNKSR2, CCDC22, FRMPD4, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B , (...)
View the complete list with 68 more genes
PGK1, CNKSR2, CCDC22, FRMPD4, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF711, LAMP2, MBTPS2, AFF2, HUWE1, IGBP1, PHF8, NLGN3, NLGN4X, AP1S2, MED12, MID1, PTCHD1, PRPS1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, NEXMIF, FLNA, PQBP1, DCX, L1CAM, GPC3, SMC1A, PORCN, PLP1, PCDH19, IDS, DMD, CDKL5, ARX, NDUFA1, BCOR, SLC9A6, ACSL4, MAOA, TIMM8A, GK, PDHA1, HCCS, OTC, MECP2, NHS, HPRT1, NDP, OCRL, HSD17B10, ATP7A, FMR1
Specificity
2 %
Genes
13 %
|
X-linked Intellectual Disabilities Sequencing.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
PGK1, CNKSR2, CCDC22, FRMPD4, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B , (...)
View the complete list with 68 more genes
PGK1, CNKSR2, CCDC22, FRMPD4, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF711, LAMP2, MBTPS2, AFF2, HUWE1, IGBP1, PHF8, NLGN3, NLGN4X, AP1S2, MED12, MID1, PTCHD1, PRPS1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, NEXMIF, FLNA, PQBP1, DCX, L1CAM, GPC3, SMC1A, PORCN, PLP1, PCDH19, IDS, DMD, CDKL5, ARX, NDUFA1, BCOR, SLC9A6, ACSL4, MAOA, TIMM8A, GK, PDHA1, HCCS, OTC, MECP2, NHS, HPRT1, NDP, OCRL, HSD17B10, ATP7A, FMR1
Specificity
2 %
Genes
13 %
|
X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
PGK1, CNKSR2, CCDC22, FRMPD4, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B , (...)
View the complete list with 67 more genes
PGK1, CNKSR2, CCDC22, FRMPD4, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF711, LAMP2, MBTPS2, AFF2, HUWE1, IGBP1, PHF8, NLGN3, NLGN4X, AP1S2, MED12, MID1, PTCHD1, PRPS1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, NEXMIF, FLNA, PQBP1, DCX, L1CAM, GPC3, SMC1A, PORCN, PLP1, PCDH19, IDS, DMD, CDKL5, ARX, NDUFA1, BCOR, SLC9A6, MAOA, TIMM8A, GK, PDHA1, HCCS, OTC, MECP2, NHS, HPRT1, NDP, OCRL, HSD17B10, ATP7A, FMR1
Specificity
2 %
Genes
13 %
|
Rett/Angelman Syndrome Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago in United States.
EHMT1, ZEB2, OPHN1, ATRX, CNTNAP2, TCF4, PNKP, DYRK1A, NRXN1, MBD5, FOLR1, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC9A6, MECP2, UBE3A
Specificity
5 %
Genes
13 %
|
Non-Specific Intellectual Disability Panel.
By Genetic Services Laboratory University of Chicago in United States.
CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, ZNF526, ZNF674, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, SLC25A1, KPTN, PACS1, VLDLR , (...)
View the complete list with 153 more genes
CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, ZNF526, ZNF674, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, SLC25A1, KPTN, PACS1, VLDLR, NRXN2, AP4M1, AP4E1, AP4B1, AP4S1, ERLIN2, DDHD2, PGAP1, ARID1A, SMARCB1, SMARCA4, SOX11, DNMT3A, PCNT, NSUN2, CCDC22, FRMPD4, EIF2S3, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SLC16A2, CLIC2, BRWD3, ZDHHC9, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, ZNF41, ZNF711, MAGT1, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, NLGN3, NLGN4X, CTNNB1, ARID1B, AP1S2, EHMT1, FOXP1, KIRREL3, MED12, MID1, ADNP, PTCHD1, PRPS1, SHANK2, SHANK3, VPS13B, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, DYRK1A, GRIN1, NRXN1, ST3GAL3, NEXMIF, PURA, SRPX2, FLNA, PQBP1, DCX, DEAF1, MBD5, GRIN2A, GRIN2B, SCN2A, DYNC1H1, KIF1A, L1CAM, SMC1A, SYNGAP1, RAI1, PLP1, PCDH19, MEF2C, FOXG1, TECR, ANK3, CACNG2, CTCF, EPB41L1, GATAD2B, ZNF407, ADAT3, CLIP1, CRADD, EZR, FBXO31, FMN2, WASHC4, KIF4A, METTL23, MID2, NDST1, SETD5, SLC6A17, TAF2, TTI2, ZMYND11, CDKL5, ARX, SLC6A8, L2HGDH, ALDH5A1, BCOR, SLC9A6, ACSL4, MAOA, PDHA1, D2HGDH, ALG6, TUSC3, TUBA1A, STXBP1, IDH2, MECP2, NHS, HPRT1, OCRL, HSD17B10, UBE3A, FMR1
Specificity
2 %
Genes
38 %
|
X-linked Non-Specific Intellectual Disability Panel.
By Genetic Services Laboratory University of Chicago in United States.
ZNF674, CCDC22, FRMPD4, EIF2S3, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15 , (...)
View the complete list with 59 more genes
ZNF674, CCDC22, FRMPD4, EIF2S3, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, ZNF41, ZNF711, MAGT1, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, NLGN3, NLGN4X, AP1S2, MED12, MID1, PTCHD1, PRPS1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, IQSEC2, ATRX, SMS, OFD1, NEXMIF, SRPX2, FLNA, PQBP1, DCX, L1CAM, SMC1A, PLP1, PCDH19, CDKL5, ARX, SLC6A8, BCOR, SLC9A6, ACSL4, MAOA, PDHA1, MECP2, NHS, HPRT1, OCRL, HSD17B10, FMR1
Specificity
2 %
Genes
13 %
|
Rett/Angelman Syndrome Sequencing Panel.
By Genetic Services Laboratory University of Chicago in United States.
TRAPPC9, EHMT1, ZEB2, OPHN1, ATRX, CNTNAP2, TCF4, PNKP, DYRK1A, NRXN1, WDR45, MBD5, FOLR1, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC9A6 , (...)
View the complete list with 3 more genes
TRAPPC9, EHMT1, ZEB2, OPHN1, ATRX, CNTNAP2, TCF4, PNKP, DYRK1A, NRXN1, WDR45, MBD5, FOLR1, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC9A6, MECP2, ADSL, UBE3A
Specificity
5 %
Genes
13 %
|
PCDH19 sequencing.
By Genetic Services Laboratory University of Chicago in United States.
PCDH19
Specificity
100 %
Genes
13 %
|
PCDH19 deletion/duplication analysis.
By Genetic Services Laboratory University of Chicago in United States.
PCDH19
Specificity
100 %
Genes
13 %
|
Rett/Atypical Rett/Angelman.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.
EHMT1, ZEB2, ATRX, CNTNAP2, TCF4, PNKP, NRXN1, MBD5, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC9A6, MECP2, UBE3A
Specificity
7 %
Genes
13 %
|
AutismNext.
By Ambry Genetics in United States.
POGZ, KATNAL2, UPF3B, NLGN3, NLGN4X, ARID1B, TBR1, CHD8, CACNA1C, FOXP1, MED12, ADNP, PTCHD1, SHANK3, ZEB2, RAB39B, GRIA3, CNTNAP2, TCF4, ANKRD11 , (...)
View the complete list with 28 more genes
POGZ, KATNAL2, UPF3B, NLGN3, NLGN4X, ARID1B, TBR1, CHD8, CACNA1C, FOXP1, MED12, ADNP, PTCHD1, SHANK3, ZEB2, RAB39B, GRIA3, CNTNAP2, TCF4, ANKRD11, DYRK1A, NRXN1, CHD2, GRIN2B, SCN2A, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, RAD21, TSC2, HDAC8, RAI1, PCDH19, MEF2C, FOXG1, DHCR7, CREBBP, CHD7, CDKL5, SLC6A8, SLC9A6, MECP2, PTEN, UBE3A, FMR1
Specificity
5 %
Genes
25 %
|
IDNext.
By Ambry Genetics in United States.
KAT6A, DDX3X, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3, RPL10, RPS6KA3 , (...)
View the complete list with 120 more genes
KAT6A, DDX3X, CA8, CC2D1A, MAN1B1, TRAPPC9, LINS1, MED23, CTCF, PACS1, SATB2, AP4B1, SMARCA2, SMARCB1, SMARCA4, NSUN2, SLC16A2, BRWD3, RPL10, RPS6KA3, FTSJ1, GDI1, ZC4H2, UPF3B, UBE2A, DLG3, LAMP2, HUWE1, PHF8, NLGN3, NLGN4X, ARID1B, TBR1, HOXA1, CHD8, AP1S2, EHMT1, FOXP1, FOXP2, MED12, MID1, ADNP, PTCHD1, VPS13B, ZEB2, RAB39B, CUL4B, CASK, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, PNKP, ANKRD11, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ST3GAL3, WDR45, GNAO1, NEXMIF, PURA, DNM1, HNRNPU, FLNA, PQBP1, DCX, DEPDC5, ALG13, MBD5, GRIN2A, CHD2, PNPO, HCN1, GRIN2B, FOLR1, STX1B, SCN2A, DYNC1H1, KIF1A, L1CAM, CACNA1A, PPT1, GPC3, NSD1, NIPBL, SMC1A, SMC3, SYNGAP1, RAD21, HDAC8, SLC2A1, RAI1, PTPN11, PORCN, PLP1, PCDH19, MEF2C, IDS, FOXG1, CREBBP, CHD7, CDKL5, ARX, SLC6A8, NDUFA1, ABCD1, SLC9A6, ACSL4, MAOA, TIMM8A, PDHA1, OTC, SLC25A22, TUSC3, GATM, GAMT, MECP2, NHS, HPRT1, NDP, OCRL, ATP7A, PTEN, UBE3A, FMR1
Specificity
2 %
Genes
25 %
|
PCDH19. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
PCDH19
Specificity
100 %
Genes
13 %
|
Angelman/Rett Seq.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
EHMT1, ZEB2, OPHN1, ATRX, TCF4, PNKP, DYRK1A, MBD5, FOLR1, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC9A6, MECP2, UBE3A
Specificity
6 %
Genes
13 %
|
Angelman/Rett Del/Dup.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
EHMT1, ZEB2, OPHN1, ATRX, TCF4, PNKP, DYRK1A, MBD5, FOLR1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC9A6, MECP2, UBE3A
Specificity
6 %
Genes
13 %
|
Angelman/ Rett Seq + Del/Dup.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
EHMT1, ZEB2, OPHN1, ATRX, TCF4, PNKP, DYRK1A, MBD5, FOLR1, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC9A6, MECP2, UBE3A
Specificity
6 %
Genes
13 %
|
Epileptic encephalopathy, early infantile, 9 (EIEE9, sequence analysis of PCDH19 gene).
By CGC Genetics in Portugal.
PCDH19
Specificity
100 %
Genes
13 %
|
Mental retardation, X-linked (NGS panel for 89 genes).
By CGC Genetics in Portugal.
KIF4A, MID2, PGK1, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, SHROOM4, RPS6KA3, FTSJ1, GDI1, USP9X, UPF3B, UBE2A, TSPAN7 , (...)
View the complete list with 69 more genes
KIF4A, MID2, PGK1, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, SHROOM4, RPS6KA3, FTSJ1, GDI1, USP9X, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF711, LAMP2, MBTPS2, AFF2, HCFC1, HUWE1, IGBP1, PHF8, NLGN4X, AP1S2, MED12, MID1, PRPS1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, NEXMIF, SRPX2, FLNA, PQBP1, DCX, L1CAM, GPC3, SMC1A, HDAC8, PORCN, PLP1, PCDH19, IDS, DMD, CDKL5, ARX, SLC6A8, NDUFA1, ABCD1, BCOR, SLC9A6, ACSL4, MAOA, TIMM8A, GK, PDHA1, HCCS, OTC, MECP2, NHS, HPRT1, NDP, OCRL, HSD17B10, ATP7A, FMR1
Specificity
2 %
Genes
13 %
|
Epileptic encephalopathy, early infantile 9 (EIEE9, deletions/duplications analysis of PCDH19 gene).
By CGC Genetics in Portugal.
PCDH19
Specificity
100 %
Genes
13 %
|
Epilepsy and Intellectual Disability in Females via the PCDH19 Gene.
By PreventionGenetics PreventionGenetics in United States.
PCDH19
Specificity
100 %
Genes
13 %
|
X-Linked Intellectual Disability Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
USP27X, SYTL5, KLHL15, MAP7D3, SLC7A3, MAGEA11, RLIM, DRP2, MSL3, NONO, H2BFWT, ARSF, RNF113A, HMGB3, SSR4, DDX3X, POLA1, KCNE5, BCAP31, KIF4A , (...)
View the complete list with 108 more genes
USP27X, SYTL5, KLHL15, MAP7D3, SLC7A3, MAGEA11, RLIM, DRP2, MSL3, NONO, H2BFWT, ARSF, RNF113A, HMGB3, SSR4, DDX3X, POLA1, KCNE5, BCAP31, KIF4A, MID2, ARSE, BCORL1, HNRNPH2, PGK1, KDM6A, THOC2, CNKSR2, CDK16, CCDC22, CLCN4, FRMPD4, ZMYM3, ZCCHC12, FAAH2, EIF2S3, LAS1L, IL1RAPL1, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZC4H2, USP9X, UPF3B, UBE2A, TSPAN7, EBP, DLG3, DKC1, ZNF711, LAMP2, MBTPS2, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, NLGN3, NLGN4X, AP1S2, MED12, MID1, PTCHD1, PRPS1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, PIGA, WDR45, NEXMIF, SRPX2, FLNA, PQBP1, DCX, ALG13, SLC35A2, L1CAM, GPC3, SMC1A, HDAC8, PLP1, PCDH19, IDS, CDKL5, ARX, SLC6A8, TMLHE, ABCD1, BCOR, SLC9A6, ACSL4, MAOA, AIFM1, GK, PDHA1, OTC, MECP2, NHS, HPRT1, NDP, HSD17B10, FMR1
Specificity
1 %
Genes
13 %
|
Epileptic Encephalopathy, Early Infantile, 9.
By MGZ Medical Genetics Center in Germany.
PCDH19
Specificity
100 %
Genes
13 %
|
Mental Retardation and Dysmorphology - panels.
By MGZ Medical Genetics Center in Germany.
GATAD2B, CUL7, SPECC1L, IRF6, CCNQ, ROR2, CCND2, HEPACAM, TBC1D7, KPTN, WNT5A, SRCAP, UBR1, C2CD3, TCTN3, NOTCH2, PACS1, EPG5, ERCC8, AKT1 , (...)
View the complete list with 323 more genes
GATAD2B, CUL7, SPECC1L, IRF6, CCNQ, ROR2, CCND2, HEPACAM, TBC1D7, KPTN, WNT5A, SRCAP, UBR1, C2CD3, TCTN3, NOTCH2, PACS1, EPG5, ERCC8, AKT1, AKT3, PIK3R2, INSR, IDH1, ALX1, GNAQ, PIK3CA, CPLANE1, KIF7, GNAS, TRIM37, CTC1, EFTUD2, EFNB1, EP300, TBX5, SALL4, ALX4, PGK1, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, SMARCE1, ERCC6, PITX1, KDM6A, MAGEL2, TP63, MITF, GPSM2, ABCC9, GLI3, RNF135, EZH2, NFIX, DNMT3A, GNPTG, ABCC6, A2ML1, RRAS, RASA2, NSUN2, SPRED1, TWIST1, POR, RAB23, THOC2, CCDC22, CLCN4, ZMYM3, EIF2S3, LAS1L, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, RASA1, PEX12, PEX10, PEX26, FAT4, LZTR1, NLGN3, NLGN4X, CTNNB1, ARID1B, CHD8, AP1S2, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, FUCA1, POLR1D, TFAP2A, PEX6, PRPS1, TCOF1, SOX10, SNAI2, EDNRB, EDNRA, PAX3, POLR1C, EDN3, ACTG1, ACTB, SALL1, GFAP, VPS13B, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, ANKRD11, DYRK1A, GRIN1, NRXN1, KANSL1, ST3GAL3, WDR45, NEXMIF, SETD2, KMT2D, SRPX2, FLNA, PQBP1, DCX, MBD5, GRIN2A, GRIN2B, EMD, MTM1, KIF1A, FHL1, WASHC5, L1CAM, MYH7, FGFR1, NFATC2IP, PLXND1, REV3L, NXF5, HERC2, WAC, STRADA, MED13L, BCL11A, DLL4, TXNL4A, LMBR1, NOG, DCHS1, DVL1, EOGT, DIS3L2, TBX3, RBPJ, DOCK6, TRPS1, KAT6A, DDX3X, FLNB, ARHGAP31, HOXD13, SF3B4, SNX14, CCDC8, OBSL1, ALX3, CC2D1A, CRBN, GRIK2, TRAPPC9, ZNF674, CDH15, C12orf57, MED23, TECR, ANK3, CACNG2, CTCF, EPB41L1, NF1, EIF2B5, SUMF1, PEX1, MCOLN1, MLC1, PEX2, GPC3, CDKN1C, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, SOS1, SHOC2, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IKBKG, IDUA, IDS, HRAS, FOXG1, DMD, DHCR7, CREBBP, CHRNA7, CHD7, CDKL5, BRAF, GBA, ARX, ASPA, FGFR3, SLC6A8, GBE1, PYGM, CBS, MAN2B1, MANBA, NDUFA1, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, PHKB, HEXB, HEXA, BCOR, SLC9A6, ACSL4, PHKA1, MAOA, AIFM1, TIMM8A, GK, PDHA1, HCCS, OTC, PHKG2, IDH2, G6PC, PYGL, PHKA2, DHODH, MECP2, SMPD1, RAF1, NHS, HPRT1, NDP, JAG1, OCRL, HSD17B10, GLB1, GNPTAB, SLC37A4, LRP5, GAA, ATP7A, AGL, RECQL4, PTEN, UBE3A, FMR1
Specificity
1 %
Genes
13 %
|
Syndromal Diseases - panels.
By MGZ Medical Genetics Center in Germany.
PACS1, EPG5, ERCC8, AKT1, AKT3, PIK3R2, INSR, IDH1, ALX1, GNAQ, PIK3CA, CPLANE1, KIF7, GNAS, TRIM37, EFTUD2, EFNB1, EP300, TBX5, SALL4 , (...)
View the complete list with 322 more genes
PACS1, EPG5, ERCC8, AKT1, AKT3, PIK3R2, INSR, IDH1, ALX1, GNAQ, PIK3CA, CPLANE1, KIF7, GNAS, TRIM37, EFTUD2, EFNB1, EP300, TBX5, SALL4, ALX4, PGK1, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, SMARCE1, ERCC6, PITX1, KDM6A, MAGEL2, TP63, MITF, GPSM2, ABCC9, GLI3, RNF135, EZH2, NFIX, DNMT3A, GNPTG, ABCC6, A2ML1, RRAS, RASA2, NSUN2, SPRED1, TWIST1, POR, RAB23, THOC2, CCDC22, CLCN4, ZMYM3, EIF2S3, LAS1L, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, RASA1, PEX12, PEX10, PEX26, FAT4, LZTR1, NLGN3, NLGN4X, CTNNB1, ARID1B, CHD8, AP1S2, EHMT1, FOXP1, FOXP2, MED12, MID1, PTCHD1, FUCA1, POLR1D, TFAP2A, PEX6, PRPS1, TCOF1, SOX10, SNAI2, EDNRB, EDNRA, PAX3, POLR1C, EDN3, ACTG1, ACTB, SALL1, GFAP, VPS13B, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, TCF4, KCNJ10, ANKRD11, DYRK1A, GRIN1, NRXN1, KANSL1, ST3GAL3, WDR45, NEXMIF, SETD2, KMT2D, SRPX2, FLNA, PQBP1, DCX, MBD5, GRIN2A, GRIN2B, EMD, MTM1, KIF1A, FHL1, WASHC5, L1CAM, MYH7, FGFR1, NF1, EIF2B5, SUMF1, PEX1, MCOLN1, MLC1, PEX2, GPC3, CDKN1C, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, SOS1, SHOC2, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, MAP2K1, KRAS, IKBKG, IDUA, IDS, HRAS, FOXG1, DMD, DHCR7, CREBBP, CHRNA7, CHD7, CDKL5, BRAF, GBA, ARX, ASPA, FGFR3, SLC6A8, GBE1, PYGM, CBS, MAN2B1, MANBA, NDUFA1, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, PHKB, HEXB, HEXA, BCOR, SLC9A6, ACSL4, PHKA1, MAOA, AIFM1, TIMM8A, GK, PDHA1, HCCS, OTC, PHKG2, IDH2, G6PC, PYGL, PHKA2, DHODH, MECP2, SMPD1, RAF1, NHS, HPRT1, NDP, JAG1, OCRL, HSD17B10, GLB1, GNPTAB, SLC37A4, LRP5, NFATC2IP, PLXND1, REV3L, NXF5, HERC2, WAC, STRADA, MED13L, BCL11A, DLL4, TXNL4A, LMBR1, NOG, DCHS1, DVL1, EOGT, DIS3L2, TBX3, RBPJ, DOCK6, TRPS1, KAT6A, DDX3X, FLNB, ARHGAP31, HOXD13, SF3B4, SNX14, CCDC8, OBSL1, ALX3, CC2D1A, CRBN, GRIK2, TRAPPC9, ZNF674, CDH15, C12orf57, MED23, TECR, ANK3, CACNG2, CTCF, EPB41L1, GATAD2B, CUL7, SPECC1L, IRF6, CCNQ, ROR2, CCND2, HEPACAM, TBC1D7, KPTN, WNT5A, SRCAP, UBR1, C2CD3, TCTN3, NOTCH2, GAA, ATP7A, AGL, RECQL4, PTEN, UBE3A, FMR1
Specificity
1 %
Genes
13 %
|
X-Linked Mental Retardation.
By MGZ Medical Genetics Center in Germany.
NXF5, FAM126A, ZNF674, PGK1, CTDP1, GAN, KDM6A, THOC2, CLCN4, ZMYM3, EIF2S3, LAS1L, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2 , (...)
View the complete list with 93 more genes
NXF5, FAM126A, ZNF674, PGK1, CTDP1, GAN, KDM6A, THOC2, CLCN4, ZMYM3, EIF2S3, LAS1L, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, NLGN3, NLGN4X, AP1S2, MED12, MID1, PTCHD1, PRPS1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, WDR45, NEXMIF, SRPX2, FLNA, PQBP1, DCX, EMD, MTM1, FHL1, L1CAM, SLC12A6, GPC3, SMC1A, HDAC8, PORCN, PLP1, PCDH19, IKBKG, IDS, DMD, CDKL5, ARX, SLC6A8, NDUFA1, BCOR, SLC9A6, ACSL4, MAOA, AIFM1, TIMM8A, GK, PDHA1, HCCS, OTC, MECP2, NHS, HPRT1, NDP, OCRL, HSD17B10, ATP7A, FMR1
Specificity
1 %
Genes
13 %
|
Angelman Syndrome and Differential Diagnoses.
By MGZ Medical Genetics Center in Germany.
HERC2, EHMT1, ZEB2, KDM5C, ATRX, CNTNAP2, TCF4, DYRK1A, NRXN1, NEXMIF, MBD5, SYNGAP1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC9A6, MECP2, UBE3A
Specificity
5 %
Genes
13 %
|
PCD19.
By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.
PCDH19
Specificity
100 %
Genes
13 %
|
Early infantile epileptic encephalopathy type 9.
By Centogene AG - the Rare Disease Company in Germany.
PCDH19
Specificity
100 %
Genes
13 %
|
Epileptic encephalopathy, early infantile type 9.
By Centogene AG - the Rare Disease Company in Germany.
PCDH19
Specificity
100 %
Genes
13 %
|
Epilepsy and X-linked Mental Retardation with Seizures Panel.
By CeGaT GmbH in Germany.
PGK1, UBE2A, MED12, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, IQSEC2, ATRX, SMS, OFD1, PCDH19 , (...)
View the complete list with 5 more genes
PGK1, UBE2A, MED12, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, IQSEC2, ATRX, SMS, OFD1, PCDH19, CDKL5, ARX, SLC9A6, MECP2, HSD17B10
Specificity
4 %
Genes
13 %
|
Single gene testing PCDH19.
By CeGaT GmbH in Germany.
PCDH19
Specificity
100 %
Genes
13 %
|
Test for Epileptic Encephalopathy, Early Infantile, 9.
By All Wales Genetics Laboratory Institute of Medical Genetics in United Kingdom.
PCDH19
Specificity
100 %
Genes
13 %
|
Epileptic encephalopathy, early infantile, 9.
By DNAbiolab Cretan Center for Research and Development of Applications on Genetics and Molecular Biology in Greece.
PCDH19
Specificity
100 %
Genes
13 %
|
Epileptic encephaopathy early infantile 9.
By MVZ Dortmund Dr. Eberhard & Partner in Germany.
PCDH19
Specificity
100 %
Genes
13 %
|
Test for Epileptic Encephalopathy, Early Infantile, 9.
By Secugen SL in Spain.
PCDH19
Specificity
100 %
Genes
13 %
|
Epileptic encephalopathy, early infantile 9.
By Praxis fuer Humangenetik Wien in Austria.
PCDH19
Specificity
100 %
Genes
13 %
|
PCDH19 Gene Sequencing.
By GENETIX Centro de Investigación en Genética Humana y Reproductiva in Colombia.
PCDH19
Specificity
100 %
Genes
13 %
|
Epileptic encephalopathy, early infantile 9.
By MedGene in Slovakia.
PCDH19
Specificity
100 %
Genes
13 %
|
Encephalopathy, Epilectic: PCDH19 gene sequence analysis.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
PCDH19
Specificity
100 %
Genes
13 %
|
Autism.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
OXTR, GABRG3, GABRA5, EN2, PDE8B, LAMB1, SLC6A4, SLC9A9, CNTN4, RPL10, NLGN3, NLGN4X, HOXA1, CACNA1C, FOXP2, PTCHD1, SHANK3, CNTNAP2, NRXN1, RELN , (...)
View the complete list with 8 more genes
OXTR, GABRG3, GABRA5, EN2, PDE8B, LAMB1, SLC6A4, SLC9A9, CNTN4, RPL10, NLGN3, NLGN4X, HOXA1, CACNA1C, FOXP2, PTCHD1, SHANK3, CNTNAP2, NRXN1, RELN, GABRB3, CACNA1H, PCDH19, ARX, SLC25A12, MECP2, CACNA1F, UBE3A
Specificity
4 %
Genes
13 %
|
PCDH19-Related X-Linked Female-Limited Epilepsy with Mental Retardation: PCDH19 Full Gene Sequencing.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
PCDH19
Specificity
100 %
Genes
13 %
|
PCDH19-Related X-Linked Female-Limited Epilepsy with Mental Retardation: PCDH19 Gene Deletion/Duplication.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
PCDH19
Specificity
100 %
Genes
13 %
|
X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
PGK1, CNKSR2, CDK16, CCDC22, FRMPD4, KLF8, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1 , (...)
View the complete list with 71 more genes
PGK1, CNKSR2, CDK16, CCDC22, FRMPD4, KLF8, IL1RAPL1, NSDHL, NAA10, SOX3, SLC16A2, CLIC2, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF711, LAMP2, MBTPS2, AFF2, HCFC1, HUWE1, IGBP1, PHF8, NLGN3, NLGN4X, AP1S2, MED12, MID1, PTCHD1, PRPS1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, NEXMIF, FLNA, PQBP1, DCX, L1CAM, GPC3, SMC1A, PORCN, PLP1, PCDH19, IDS, DMD, CDKL5, ARX, NDUFA1, BCOR, SLC9A6, ACSL4, MAOA, TIMM8A, GK, PDHA1, HCCS, OTC, MECP2, NHS, HPRT1, NDP, OCRL, HSD17B10, ATP7A, FMR1
Specificity
2 %
Genes
13 %
|
Rett-Angelman Syndrome NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
TRAPPC9, MED17, CAV1, ZEB2, OPHN1, ATRX, CNTNAP2, TCF4, PNKP, SLC2A1, PCDH19, MEF2C, FOXG1, CDKL5, ARX, SLC9A6, MECP2, UBE3A
Specificity
6 %
Genes
13 %
|
XLID NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
ZNF674, PGK1, CNKSR2, CCDC22, FRMPD4, ZCCHC12, WDR13, FAAH2, GSPT2, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9 , (...)
View the complete list with 87 more genes
ZNF674, PGK1, CNKSR2, CCDC22, FRMPD4, ZCCHC12, WDR13, FAAH2, GSPT2, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, USP9X, UPF3B, UBE2A, TSPAN7, EBP, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HUWE1, IGBP1, PHF8, NLGN3, NLGN4X, AP1S2, MED12, MID1, PTCHD1, PRPS1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, NEXMIF, SRPX2, FLNA, PQBP1, DCX, MTM1, L1CAM, GPC3, SMC1A, HDAC8, PORCN, PLP1, PCDH19, IDS, DMD, CDKL5, ARX, NDUFA1, ABCD1, BCOR, SLC9A6, ACSL4, MAOA, AIFM1, TIMM8A, GK, PDHA1, HCCS, OTC, MECP2, NHS, HPRT1, NDP, OCRL, HSD17B10, ATP7A, FMR1
Specificity
1 %
Genes
13 %
|
PCDH19.
By Fulgent Genetics Fulgent Genetics in United States.
PCDH19
Specificity
100 %
Genes
13 %
|
X-chromosome High Resolution microarray analysis.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.
SERPINA7, SAT1, SLC6A14, TBX22, COX7B, CHRDL1, VMA21, TRAPPC2, AMELX, CFP, POLA1, STS, ATP2B3, CLCN5, IGSF1, ZNF674, MAMLD1, ARSE, CCNQ, EDA , (...)
View the complete list with 140 more genes
SERPINA7, SAT1, SLC6A14, TBX22, COX7B, CHRDL1, VMA21, TRAPPC2, AMELX, CFP, POLA1, STS, ATP2B3, CLCN5, IGSF1, ZNF674, MAMLD1, ARSE, CCNQ, EDA, XK, XIAP, ZIC3, F8, F9, EFNB1, SH2D1A, PGK1, CSF2RA, KDM6A, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, ZC4H2, UPF3B, UBE2A, TSPAN7, EBP, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HCFC1, IGBP1, PHF8, GATA1, NLGN3, NLGN4X, AP1S2, MED12, MID1, SMPX, PRPS1, RAB39B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, ATRX, SMS, OFD1, PIGA, WDR45, SRPX2, FLNA, PQBP1, DCX, ALG13, SLC35A2, EMD, MTM1, UBQLN2, FHL1, L1CAM, COL4A5, AVPR2, ANOS1, SHOX, NR0B1, UBA1, GJB1, BTK, WAS, CYBB, G6PD, HDAC8, SRY, POU3F4, PORCN, PLP1, PCDH19, IKBKG, IDS, GLA, DMD, CDKL5, ARX, AR, IL2RG, SLC6A8, TMLHE, ABCD1, BCOR, SLC9A6, AMER1, ACSL4, PHKA1, MAOA, AIFM1, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, OTC, RP2, PHKA2, RS1, MECP2, RPGR, ALAS2, NHS, HPRT1, NDP, CACNA1F, OCRL, HSD17B10, GPR143, CHM, OPN1MW, ATP7A
Specificity
1 %
Genes
13 %
|
X-linked Intellectual Disability Panel.
By Blueprint Genetics in Finland.
ELK1, NXF5, DDX3X, ZNF674, PGK1, CLCN4, ZCCHC12, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, SOX3, SLC16A2, TAF1, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4 , (...)
View the complete list with 79 more genes
ELK1, NXF5, DDX3X, ZNF674, PGK1, CLCN4, ZCCHC12, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, SOX3, SLC16A2, TAF1, BRWD3, ZDHHC9, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZC4H2, USP9X, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, HUWE1, IGBP1, PHF8, NLGN3, NLGN4X, AP1S2, MED12, MID1, PTCHD1, PRPS1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, NEXMIF, SRPX2, FLNA, PQBP1, DCX, MTM1, L1CAM, GPC3, SMC1A, PORCN, PLP1, PCDH19, IDS, CDKL5, ARX, SLC6A8, NDUFA1, ABCD1, BCOR, SLC9A6, ACSL4, MAOA, TIMM8A, GK, PDHA1, HCCS, OTC, MECP2, NHS, HPRT1, NDP, OCRL, HSD17B10, ATP7A, FMR1
Specificity
2 %
Genes
13 %
|
Dravet syndrome.
By Bioarray in Spain.
PCDH19
Specificity
100 %
Genes
13 %
|
Epileptic encephalopathy, early infantile, 9.
By Bioarray in Spain.
PCDH19
Specificity
100 %
Genes
13 %
|
EPILEPSY,FEMALE RESTRICTED, WITH INTELLECTUAL DEFICIT.
By Laboratorio de Genetica Clinica SL in Spain.
PCDH19
Specificity
100 %
Genes
13 %
|
Early infantile epileptic encephalopathy 9.
By Labor Dr. Wisplinghoff in Germany.
PCDH19
Specificity
100 %
Genes
13 %
|
MECP2, SCN1B, GABRG2, LGI1, POLG, POLG2, SLC25A22, SPTAN1, SRPX2. NextGeneDx.Complete sequencing by NGS.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
SPTAN1, SRPX2, GABRG2, SCN1B, LGI1, SLC25A22, POLG2, MECP2, POLG
Specificity
23 %
Genes
25 %
|
GABRG2. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
GABRG2
Specificity
100 %
Genes
13 %
|
Epilepsy, generalized, with febrile seizures plus (sequence analysis of GABRG2 gene).
By CGC Genetics in Portugal.
GABRG2
Specificity
100 %
Genes
13 %
|
Generalized Epilepsy With Febrile Seizures Plus via the GABRG2 Gene.
By PreventionGenetics PreventionGenetics in United States.
GABRG2
Specificity
100 %
Genes
13 %
|
Epilepsy, Childhood Absence, Susceptibility to, 2.
By MGZ Medical Genetics Center in Germany.
GABRG2
Specificity
100 %
Genes
13 %
|
GABRG2-Related Generalized Epilepsy with Febrile Seizures Plus.
By MGZ Medical Genetics Center in Germany.
GABRG2
Specificity
100 %
Genes
13 %
|
Generalized epilepsy with febrile seizures plus type 3.
By Centogene AG - the Rare Disease Company in Germany.
GABRG2
Specificity
100 %
Genes
13 %
|
Epilepsy, childhood absence type 2.
By Centogene AG - the Rare Disease Company in Germany.
GABRG2
Specificity
100 %
Genes
13 %
|
Dravet syndrome.
By Centogene AG - the Rare Disease Company in Germany.
GABRG2
Specificity
100 %
Genes
13 %
|
GABRG2.
By Amplexa Genetics Amplexa Genetics A/S in Denmark.
GABRG2
Specificity
100 %
Genes
13 %
|
Single gene testing GABRG2.
By CeGaT GmbH in Germany.
GABRG2
Specificity
100 %
Genes
13 %
|
Childhood absence epilepsy.
By Laboratory of Human Genetics GENOMED Health Care Center in Poland.
JRK, GABRG2, GABRA1, GABRB3, CACNA1H, SLC2A1
Specificity
34 %
Genes
25 %
|
Febrile Seizures familial 8, GABRG2.
By MVZ Dortmund Dr. Eberhard & Partner in Germany.
GABRG2
Specificity
100 %
Genes
13 %
|
Test for GABRG2-Related Dravet Syndrome.
By Secugen SL in Spain.
GABRG2
Specificity
100 %
Genes
13 %
|
Epilepsy, generalized with febrile seizures plus (GEFS+) 3.
By Praxis fuer Humangenetik Wien in Austria.
GABRG2
Specificity
100 %
Genes
13 %
|
Febrile seizures, familial, 8.
By Praxis fuer Humangenetik Wien in Austria.
GABRG2
Specificity
100 %
Genes
13 %
|
Epilepsy, childhood absence 1.
By Praxis fuer Humangenetik Wien in Austria.
GABRG2
Specificity
100 %
Genes
13 %
|
Epilepsy, childhood absence 1.
By MedGene in Slovakia.
GABRG2
Specificity
100 %
Genes
13 %
|
Epilepsy, generalized with febrile seizures plus (GEFS+) 3.
By MedGene in Slovakia.
GABRG2
Specificity
100 %
Genes
13 %
|
Febrile seizures, familial, 8.
By MedGene in Slovakia.
GABRG2
Specificity
100 %
Genes
13 %
|
Epilepsy with febrile seizures plus, Generalized: GABRG2 gene sequence analysis.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
GABRG2
Specificity
100 %
Genes
13 %
|
GABRG2.
By Fulgent Genetics Fulgent Genetics in United States.
GABRG2
Specificity
100 %
Genes
13 %
|
Generalized Epilepsy with Febrile Seizures Plus (GEFS+) type III.
By Bioarray in Spain.
GABRG2
Specificity
100 %
Genes
13 %
|
Dravet syndrome.
By Bioarray in Spain.
GABRG2
Specificity
100 %
Genes
13 %
|
GABRG2 Gene Sequencing and Deletion/Duplication Analysis.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.
GABRG2
Specificity
100 %
Genes
13 %
|
Generalized Epilepsy with Febrile Seizures Plus, Sequencing GABRG2 Gene.
By Reference Laboratory Genetics in Spain.
GABRG2
Specificity
100 %
Genes
13 %
|
GABRA1. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
GABRA1
Specificity
100 %
Genes
13 %
|
Epileptic encephalopathy, early infantile, 19 (sequence analysis of GABRA1 gene).
By CGC Genetics in Portugal.
GABRA1
Specificity
100 %
Genes
13 %
|
Juvenile Myoclonic Epilepsy via the GABRA1 Gene.
By PreventionGenetics PreventionGenetics in United States.
GABRA1
Specificity
100 %
Genes
13 %
|
GABRA1.
By MGZ Medical Genetics Center in Germany.
GABRA1
Specificity
100 %
Genes
13 %
|
Progressive Myoclonic Epilepsy.
By MGZ Medical Genetics Center in Germany.
NOL3, MYBPC1, NEU1, ASAH1, SCARB2, GABRA1, EPM2A, KCNC1, GABRD, FOLR1, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, EFHC1, CACNB4, CASR, SGCE, CSTB , (...)
View the complete list with 11 more genes
NOL3, MYBPC1, NEU1, ASAH1, SCARB2, GABRA1, EPM2A, KCNC1, GABRD, FOLR1, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, EFHC1, CACNB4, CASR, SGCE, CSTB, CLN5, PPT1, CLN6, NPC2, NPC1, CLN3, TPP1, HEXB, HEXA, GLDC, POLG
Specificity
4 %
Genes
13 %
|
IGE/JME/CAE panel.
By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.
BRD2, CLCN2, GABRA1, GABRD, GABRB3, EFHC1, CACNA1H, CACNB4, CASR, SLC2A1, ME2
Specificity
10 %
Genes
13 %
|
Epilepsy, childhood absence type 4.
By Centogene AG - the Rare Disease Company in Germany.
GABRA1
Specificity
100 %
Genes
13 %
|
GABRA1.
By Amplexa Genetics Amplexa Genetics A/S in Denmark.
GABRA1
Specificity
100 %
Genes
13 %
|
Single gene testing GABRA1.
By CeGaT GmbH in Germany.
GABRA1
Specificity
100 %
Genes
13 %
|
Epilepsy, juvenile myoclonic 5.
By Praxis fuer Humangenetik Wien in Austria.
GABRA1
Specificity
100 %
Genes
13 %
|
Epilepsy, juvenile myoclonic 5.
By MedGene in Slovakia.
GABRA1
Specificity
100 %
Genes
13 %
|
GABRA1.
By Fulgent Genetics Fulgent Genetics in United States.
GABRA1
Specificity
100 %
Genes
13 %
|
Juvenile myoclonic epilepsy.
By Bioarray in Spain.
GABRA1
Specificity
100 %
Genes
13 %
|
JUVENILE MYOCLONIC EPILEPSY.
By Laboratorio de Genetica Clinica SL in Spain.
CLCN2, GABRA1, EFHC1, CACNB4
Specificity
25 %
Genes
13 %
|
SCN9A, Sodium Voltage-Gated Channel Alpha Subunit 9.
By Center for Human Genetics, Inc in United States.
SCN9A
Specificity
100 %
Genes
13 %
|
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel.
By ARUP Laboratories, Molecular Genetics and Genomics in United States.
HOXD10, ARHGEF10, NGF, RETREG1, PRNP, CCT5, SLC5A7, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5 , (...)
View the complete list with 58 more genes
HOXD10, ARHGEF10, NGF, RETREG1, PRNP, CCT5, SLC5A7, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, MARS, LAS1L, MYH14, PRPS1, SOX10, DNMT1, SCN9A, TDP1, IGHMBP2, HSPB3, DYNC1H1, BICD2, DCTN1, SETX, KIF1A, BAG3, BSCL2, KIF5A, INF2, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, SLC12A6, ELP1, HK1, HEXA, AIFM1, REEP1, SPTLC2, KARS, HARS, MFN2, KIF1B, GARS, FBLN5, ATP7A
Specificity
2 %
Genes
13 %
|
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel Sequencing.
By ARUP Laboratories, Molecular Genetics and Genomics in United States.
HOXD10, ARHGEF10, NGF, RETREG1, PRNP, CCT5, SLC5A7, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5 , (...)
View the complete list with 58 more genes
HOXD10, ARHGEF10, NGF, RETREG1, PRNP, CCT5, SLC5A7, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, MARS, LAS1L, MYH14, PRPS1, SOX10, DNMT1, SCN9A, TDP1, IGHMBP2, HSPB3, DYNC1H1, BICD2, DCTN1, SETX, KIF1A, BAG3, BSCL2, KIF5A, INF2, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, SLC12A6, ELP1, HK1, HEXA, AIFM1, REEP1, SPTLC2, KARS, HARS, MFN2, KIF1B, GARS, FBLN5, ATP7A
Specificity
2 %
Genes
13 %
|
SCN9A. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
SCN9A
Specificity
100 %
Genes
13 %
|
SCN9A. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
SCN9A
Specificity
100 %
Genes
13 %
|
SCN9A. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
SCN9A
Specificity
100 %
Genes
13 %
|
Primary Erythromelalgia (sequence analysis of SCN9A gene).
By CGC Genetics in Portugal.
SCN9A
Specificity
100 %
Genes
13 %
|
Epilepsy, generalized, with febrile seizures plus, type 7 (sequence analysis of SCN9A gene).
By CGC Genetics in Portugal.
SCN9A
Specificity
100 %
Genes
13 %
|
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes).
By CGC Genetics in Portugal.
DCAF8, ATL3, SCN11A, HOXD10, ARHGEF10, NGF, RETREG1, DST, CTDP1, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DHTKD1, GNB4, SBF1, PDK3, TRIM2 , (...)
View the complete list with 54 more genes
DCAF8, ATL3, SCN11A, HOXD10, ARHGEF10, NGF, RETREG1, DST, CTDP1, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, PRPS1, SOX10, DNMT1, SCN9A, IGHMBP2, DYNC1H1, KIF1A, BSCL2, KIF5A, INF2, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, SLC12A6, ELP1, SEPT9, HK1, PHYH, AIFM1, TYMP, REEP1, SPTLC2, KARS, MFN2, KIF1B, GARS, C12orf65, TWNK, ABHD12, TTR
Specificity
2 %
Genes
13 %
|
Paroxysmal extreme pain disorder (sequence analysis of SCN9A gene).
By CGC Genetics in Portugal.
SCN9A
Specificity
100 %
Genes
13 %
|
Congenital Indifference to Pain, Autosomal Recessive.
By Laboratory of Gastroenterology and Hepatology Radboud university medical center in Netherlands.
SCN9A
Specificity
100 %
Genes
13 %
|
Primary Erythromelalgia.
By Laboratory of Gastroenterology and Hepatology Radboud university medical center in Netherlands.
SCN9A
Specificity
100 %
Genes
13 %
|
Paroxysmal Extreme Pain Disorder.
By Laboratory of Gastroenterology and Hepatology Radboud university medical center in Netherlands.
SCN9A
Specificity
100 %
Genes
13 %
|
Episodic Pain Syndrome Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
SCN11A, SCN10A, SCN9A
Specificity
34 %
Genes
13 %
|
Hereditary Sensory and Autonomic Neuropathy Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
PRDM12, CLTCL1, ATL3, SCN11A, NGF, RETREG1, DST, CCT5, DNMT1, SCN9A, KIF1A, ATL1, SPTLC1, WNK1, NTRK1, RAB7A, ELP1, FLVCR1, SPTLC2, POLG
Specificity
5 %
Genes
13 %
|
Sodium Channel, Voltage-Gated, Type IX, Alpha Subunit Disorders via the SCN9A Gene.
By PreventionGenetics PreventionGenetics in United States.
SCN9A
Specificity
100 %
Genes
13 %
|
Comprehensive Neuropathy Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
NGF, RETREG1, CCT5, SLC5A7, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, LAS1L , (...)
View the complete list with 51 more genes
NGF, RETREG1, CCT5, SLC5A7, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, LAS1L, PRPS1, DNMT1, SCN9A, IGHMBP2, HSPB3, DYNC1H1, BICD2, MEGF10, DCTN1, SETX, KIF1A, BSCL2, KIF5A, INF2, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, SLC12A6, ELP1, HK1, AIFM1, REEP1, SPTLC2, KARS, MFN2, GARS, FBLN5, ATP7A, TTR
Specificity
2 %
Genes
13 %
|
Neuropathy.
By MGZ Medical Genetics Center in Germany.
KLHL13, MICAL1, SH3BP4, LARS, CLP1, DCAF8, ATL3, SCN11A, IFRD1, FAM126A, ARHGEF10, NGF, RETREG1, SCN10A, CHCHD10, SLC52A3, SLC52A2, AAAS, ABCA1, COX10 , (...)
View the complete list with 102 more genes
KLHL13, MICAL1, SH3BP4, LARS, CLP1, DCAF8, ATL3, SCN11A, IFRD1, FAM126A, ARHGEF10, NGF, RETREG1, SCN10A, CHCHD10, SLC52A3, SLC52A2, AAAS, ABCA1, COX10, CTDP1, SLC5A7, TNNT2, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, PDK3, PLEKHG5, MARS, SMAD3, LAS1L, PEX12, MYH14, PRPS1, DNMT1, SCN9A, TDP1, IGHMBP2, VRK1, HSPB3, DYNC1H1, BICD2, UBQLN2, VAPB, ANG, TARDBP, DCTN1, SETX, FUS, ALS2, KIF1A, BSCL2, NIPA1, KIF5A, SPAST, MATR3, INF2, SPG11, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, SLC12A6, SACS, PLP1, ELP1, SOD1, SEPT9, CYP27A1, FXN, GBE1, HK1, NDUFAF5, SURF1, HEXA, AIFM1, PDHA1, SQSTM1, TYMP, HADHB, REEP1, SPTLC2, KARS, HARS, VCP, HADHA, MFN2, GARS, POLG, AMACR, OPTN, FBLN5, GAA, C12orf65, ATP7A, ABHD12, TTR
Specificity
1 %
Genes
13 %
|
SCN9A-Related Inherited Erythromelalgia.
By MGZ Medical Genetics Center in Germany.
SCN9A
Specificity
100 %
Genes
13 %
|
SCN9A-Related Generalized Epilepsy with Febrile Seizures Plus.
By MGZ Medical Genetics Center in Germany.
SCN9A
Specificity
100 %
Genes
13 %
|
Congenital Indifference to Pain, Autosomal Recessive.
By MGZ Medical Genetics Center in Germany.
SCN9A
Specificity
100 %
Genes
13 %
|
Paroxysmal Extreme Pain Disorder.
By MGZ Medical Genetics Center in Germany.
SCN9A
Specificity
100 %
Genes
13 %
|
Generalized epilepsy with febrile seizures plus type 7.
By Centogene AG - the Rare Disease Company in Germany.
SCN9A
Specificity
100 %
Genes
13 %
|
Erythermalgia, primary.
By Centogene AG - the Rare Disease Company in Germany.
SCN9A
Specificity
100 %
Genes
13 %
|
Hereditary sensory and autonomic neuropathy type 2.
By Centogene AG - the Rare Disease Company in Germany.
SCN9A
Specificity
100 %
Genes
13 %
|
Insensitivity to pain, channelopathy-associated.
By Centogene AG - the Rare Disease Company in Germany.
SCN9A
Specificity
100 %
Genes
13 %
|
Dravet syndrome.
By Centogene AG - the Rare Disease Company in Germany.
SCN9A
Specificity
100 %
Genes
13 %
|
Congenital Indifference to Pain, Autosomal Recessive.
By bio.logis Center for Human Genetics Diagnosticum in Germany.
SCN9A
Specificity
100 %
Genes
13 %
|
Neuropathic Pain Syndromes Panel.
By CeGaT GmbH in Germany.
TRPA1, SCN11A, SCN10A, SCN9A, NTRK1
Specificity
20 %
Genes
13 %
|
Charcot-Marie-Tooth and Sensory Neuropathies Panel.
By CeGaT GmbH in Germany.
DCAF8, ATL3, SCN11A, HOXD10, ARHGEF10, NGF, RETREG1, SCN10A, DST, CCT5, CTDP1, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DHTKD1, GNB4, SBF1 , (...)
View the complete list with 64 more genes
DCAF8, ATL3, SCN11A, HOXD10, ARHGEF10, NGF, RETREG1, SCN10A, DST, CCT5, CTDP1, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, MYH14, PRPS1, SOX10, DNMT1, SCN9A, IGHMBP2, DYNC1H1, KIF1A, BSCL2, KIF5A, INF2, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, SLC12A6, ELP1, SEPT9, HK1, SURF1, AIFM1, TYMP, HADHB, REEP1, SPTLC2, KARS, HARS, HADHA, MFN2, KIF1B, GARS, POLG, OPA1, FBLN5, C12orf65, TWNK, ABHD12, TTR
Specificity
2 %
Genes
13 %
|
Single gene testing SCN9A.
By CeGaT GmbH in Germany.
SCN9A
Specificity
100 %
Genes
13 %
|
SCN9A.
By Institute of Human Genetics University Hospital Jena in Germany.
SCN9A
Specificity
100 %
Genes
13 %
|
Charcot-Marie-Tooth Disease.
By Asper Biogene Asper Biogene LLC in Estonia.
ARHGEF10, NGF, SLC5A7, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, TRIM2, PLEKHG5, COX6A1, MARS, MORC2, PRPS1, SCN9A , (...)
View the complete list with 47 more genes
ARHGEF10, NGF, SLC5A7, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, TRIM2, PLEKHG5, COX6A1, MARS, MORC2, PRPS1, SCN9A, IGHMBP2, HSPB3, DYNC1H1, DCTN1, SETX, KIF1A, BSCL2, KIF5A, INF2, SPTLC1, WNK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, ARSA, HK1, NAGLU, SURF1, AIFM1, TYMP, REEP1, SPTLC2, KARS, HARS, VCP, MFN2, KIF1B, GARS, POLG, C12orf65
Specificity
2 %
Genes
13 %
|
Epilepsy, generalized with febrile seizures plus, type 7.
By Praxis fuer Humangenetik Wien in Austria.
SCN9A
Specificity
100 %
Genes
13 %
|
Febrile seizures, familial, 3b.
By Praxis fuer Humangenetik Wien in Austria.
SCN9A
Specificity
100 %
Genes
13 %
|
Erythermalgia.
By Praxis fuer Humangenetik Wien in Austria.
SCN9A
Specificity
100 %
Genes
13 %
|
Insensitivity to pain, channelopathy-associated.
By Praxis fuer Humangenetik Wien in Austria.
SCN9A
Specificity
100 %
Genes
13 %
|
Paroxysmal extreme pain disorder.
By Praxis fuer Humangenetik Wien in Austria.
SCN9A
Specificity
100 %
Genes
13 %
|
Small fiber neuropathy.
By Praxis fuer Humangenetik Wien in Austria.
SCN9A
Specificity
100 %
Genes
13 %
|
Epilepsy, generalized with febrile seizures plus, type 7.
By MedGene in Slovakia.
SCN9A
Specificity
100 %
Genes
13 %
|
Erythermalgia.
By MedGene in Slovakia.
SCN9A
Specificity
100 %
Genes
13 %
|
Febrile seizures, familial, 3b.
By MedGene in Slovakia.
SCN9A
Specificity
100 %
Genes
13 %
|
Insensitivity to pain, channelopathy-associated.
By MedGene in Slovakia.
SCN9A
Specificity
100 %
Genes
13 %
|
Paroxysmal extreme pain disorder.
By MedGene in Slovakia.
SCN9A
Specificity
100 %
Genes
13 %
|
Small fiber neuropathy.
By MedGene in Slovakia.
SCN9A
Specificity
100 %
Genes
13 %
|
Invitae Comprehensive Neuropathies Panel.
By Invitae in United States.
FBXO38, ATL3, SCN11A, NGF, RETREG1, CHCHD10, SLC52A3, SLC52A2, DST, SLC5A7, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, GNB4, PDK3, TRIM2 , (...)
View the complete list with 50 more genes
FBXO38, ATL3, SCN11A, NGF, RETREG1, CHCHD10, SLC52A3, SLC52A2, DST, SLC5A7, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, GNB4, PDK3, TRIM2, PLEKHG5, MORC2, PRPS1, DNMT1, SCN9A, IGHMBP2, DYNC1H1, BICD2, VAPB, DCTN1, SIGMAR1, KIF1A, BSCL2, INF2, UBA1, SPG11, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, ELP1, AIFM1, REEP1, SPTLC2, HARS, MFN2, GARS, ATP7A, TTR
Specificity
2 %
Genes
13 %
|
Invitae Hereditary Sensory and Autonomic Neuropathy Panel.
By Invitae in United States.
ATL3, SCN11A, NGF, RETREG1, DST, DNMT1, SCN9A, KIF1A, ATL1, SPTLC1, WNK1, NTRK1, RAB7A, ELP1, SPTLC2
Specificity
7 %
Genes
13 %
|
Invitae Small Fiber Neuropathy Test.
By Invitae in United States.
SCN9A
Specificity
100 %
Genes
13 %
|
Erythromelalgia: SCN9A gene sequence analysis.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
SCN9A
Specificity
100 %
Genes
13 %
|
Hereditary Neuropathies: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
HOXD10, NGF, RETREG1, CTDP1, ZFYVE27, GAN, MED25, AARS, LRSAM1, DNAJB2, PLEKHG5, PRPS1, DNMT1, SCN9A, SPTBN2, TTBK2, FGF14, ITPR1, KCNC3, SIL1 , (...)
View the complete list with 70 more genes
HOXD10, NGF, RETREG1, CTDP1, ZFYVE27, GAN, MED25, AARS, LRSAM1, DNAJB2, PLEKHG5, PRPS1, DNMT1, SCN9A, SPTBN2, TTBK2, FGF14, ITPR1, KCNC3, SIL1, TDP1, SLC1A3, CACNB4, KCNA1, IGHMBP2, DYNC1H1, DCTN1, SPG21, SPART, KIF1A, PNPLA6, WASHC5, BSCL2, NIPA1, L1CAM, KIF5A, SPAST, SPG11, ZFYVE26, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, TTPA, SLC12A6, SACS, PEX7, MTTP, MRE11, ATM, PLP1, GLA, ELP1, APTX, FXN, PHYH, ALDH3A2, SPG7, REEP1, COQ8A, SPTLC2, MFN2, KIF1B, GARS, POLG, PRKCG, TWNK, ATP7A, TTR
Specificity
2 %
Genes
13 %
|
Hereditary Neuropathies: Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
HOXD10, NGF, RETREG1, CTDP1, ZFYVE27, GAN, MED25, AARS, LRSAM1, DNAJB2, PLEKHG5, PRPS1, DNMT1, SCN9A, SPTBN2, TTBK2, FGF14, ITPR1, KCNC3, SIL1 , (...)
View the complete list with 70 more genes
HOXD10, NGF, RETREG1, CTDP1, ZFYVE27, GAN, MED25, AARS, LRSAM1, DNAJB2, PLEKHG5, PRPS1, DNMT1, SCN9A, SPTBN2, TTBK2, FGF14, ITPR1, KCNC3, SIL1, TDP1, SLC1A3, CACNB4, KCNA1, IGHMBP2, DYNC1H1, DCTN1, SPG21, SPART, KIF1A, PNPLA6, WASHC5, BSCL2, NIPA1, L1CAM, KIF5A, SPAST, SPG11, ZFYVE26, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, TTPA, SLC12A6, SACS, PEX7, MTTP, MRE11, ATM, PLP1, GLA, ELP1, APTX, FXN, PHYH, ALDH3A2, SPG7, REEP1, COQ8A, SPTLC2, MFN2, KIF1B, GARS, POLG, PRKCG, TWNK, ATP7A, TTR
Specificity
2 %
Genes
13 %
|
Hereditary Neuropathies NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
MED25, AARS, LRSAM1, DNMT1, SCN9A, DYNC1H1, ATL1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4 , (...)
View the complete list with 13 more genes
MED25, AARS, LRSAM1, DNMT1, SCN9A, DYNC1H1, ATL1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, PRX, SBF2, NDRG1, GLA, SPTLC2, MFN2, KIF1B, GARS, TTR
Specificity
4 %
Genes
13 %
|
Charcot Marie Tooth Disease Extended NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
NGF, RETREG1, GAN, MED25, AARS, LRSAM1, DNAJB2, PLEKHG5, PRPS1, DNMT1, SCN9A, IGHMBP2, DYNC1H1, KIF1A, BSCL2, ATL1, SPTLC1, WNK1, NTRK1, GJB1 , (...)
View the complete list with 29 more genes
NGF, RETREG1, GAN, MED25, AARS, LRSAM1, DNAJB2, PLEKHG5, PRPS1, DNMT1, SCN9A, IGHMBP2, DYNC1H1, KIF1A, BSCL2, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, SLC12A6, GLA, ELP1, REEP1, SPTLC2, MFN2, KIF1B, GARS, ATP7A, TTR
Specificity
3 %
Genes
13 %
|
SCN9A.
By Fulgent Genetics Fulgent Genetics in United States.
SCN9A
Specificity
100 %
Genes
13 %
|
Charcot-Marie-Tooth Neuropathy Panel.
By Blueprint Genetics in Finland.
ATAD3A, MCM3AP, PRDM12, DCAF8, ATL3, SCN11A, ARHGEF10, NGF, RETREG1, CHCHD10, SLC25A46, DST, COX10, CCT5, CTDP1, GAN, MED25, AARS, LRSAM1, TFG , (...)
View the complete list with 78 more genes
ATAD3A, MCM3AP, PRDM12, DCAF8, ATL3, SCN11A, ARHGEF10, NGF, RETREG1, CHCHD10, SLC25A46, DST, COX10, CCT5, CTDP1, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, MME, SMAD3, PRPS1, DNMT1, SCN9A, IGHMBP2, DYNC1H1, DCTN1, SETX, KIF1A, BAG3, BSCL2, KIF5A, LDB3, MYOT, INF2, SPG11, ZFYVE26, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, SLC12A6, SACS, ELP1, NEFH, SEPT9, FXN, HK1, SURF1, AIFM1, TYMP, HADHB, REEP1, SPTLC2, KARS, HARS, VCP, MFN2, KIF1B, GARS, POLG, GNE, AMACR, FBLN5, C12orf65, ATP7A, TTR
Specificity
2 %
Genes
13 %
|
Generalized Epilepsy with Febrile Seizures Plus (GEFS+) type VII.
By Bioarray in Spain.
SCN9A
Specificity
100 %
Genes
13 %
|
Erythermalgia, primary.
By Bioarray in Spain.
SCN9A
Specificity
100 %
Genes
13 %
|
SCN9A Gene Sequencing and Deletion/Duplication Analysis.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.
SCN9A
Specificity
100 %
Genes
13 %
|
FAMILIAL ERYTHROMELALGIA OR ERYTHERMALGIA.
By Laboratorio de Genetica Clinica SL in Spain.
SCN9A
Specificity
100 %
Genes
13 %
|
PAROXYSMAL EXTREME PAIN DISORDER.
By Laboratorio de Genetica Clinica SL in Spain.
SCN11A, SCN10A, SCN9A
Specificity
34 %
Genes
13 %
|
Small Fiber Neuropathy , Sequencing SCN9A Gene.
By Reference Laboratory Genetics in Spain.
SCN9A
Specificity
100 %
Genes
13 %
|
Erythromelalgia , Sequencing SCN9A Gene.
By Reference Laboratory Genetics in Spain.
SCN9A
Specificity
100 %
Genes
13 %
|
Paroxysmal Extreme Pain Disorder & Familial Episodic Pain Syndrome , Panel Massive Sequencing (NGS) TRPA1, SCN9A, SCN10A.
By Reference Laboratory Genetics in Spain.
TRPA1, SCN10A, SCN9A
Specificity
34 %
Genes
13 %
|
Paroxysmal extreme pain disorder.
By Labor Dr. Wisplinghoff in Germany.
SCN9A
Specificity
100 %
Genes
13 %
|
Hereditary Sensory and Autonomic Neuropathy Type II: gene sequencing panel.
By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.
RETREG1, SCN9A, KIF1A, WNK1
Specificity
25 %
Genes
13 %
|
SCN9A-Related Inherited Erythromelalgia: gene sequencing.
By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.
SCN9A
Specificity
100 %
Genes
13 %
|
Epilepsy Advanced Sequencing and CNV Evaluation - Infantile Spasms.
By Athena Diagnostics Inc in United States.
SPTAN1, ST3GAL3, NR2F1, TBL1XR1, CACNA2D1, GRIN2A, SLC35A2, SCN2A, GABRB3, MEF2C, FOXG1, CDKL5, ARX, SLC25A22, STXBP1, ADSL
Specificity
13 %
Genes
25 %
|
EpiFirst-Infantile Spasms.
By Ambry Genetics in United States.
SPTAN1, GRIN1, SCN8A, SIK1, DNM1, EEF1A2, GRIN2A, KCNQ2, KCNT1, SCN2A, TSC1, TSC2, FOXG1, CDKL5, ARX, SLC25A22, STXBP1
Specificity
12 %
Genes
25 %
|
SCN2A. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
SCN2A
Specificity
100 %
Genes
13 %
|
SCN2A, PRRT2, KCNQ2, KCNQ3. NextGeneDx.Complete sequencing by NGS.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
PRRT2, SCN2A
Specificity
50 %
Genes
13 %
|
Benign familial neonatal-infantile seizures-3 (sequence analysis of SCN2A gene).
By CGC Genetics in Portugal.
SCN2A
Specificity
100 %
Genes
13 %
|
Early Infantile Epilepsies and Autism via the SCN2A Gene.
By PreventionGenetics PreventionGenetics in United States.
SCN2A
Specificity
100 %
Genes
13 %
|
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
DCPS, MYT1L, MED13L, TRIO, SIN3A, MAP3K7, ELP2, EXTL3, CIC, TBC1D23, TRAPPC6B, ABI2, CAPS, DMBT1, FBXO47, MAPK8, PIDD1, SDK2, SLAIN1, SPATA13 , (...)
View the complete list with 90 more genes
DCPS, MYT1L, MED13L, TRIO, SIN3A, MAP3K7, ELP2, EXTL3, CIC, TBC1D23, TRAPPC6B, ABI2, CAPS, DMBT1, FBXO47, MAPK8, PIDD1, SDK2, SLAIN1, SPATA13, SUMF2, SYNRG, TET1, UBA7, USP44, ZBTB11, BCL11A, MAGEA11, AFF3, DDX3X, LAMC1, SNX14, HIVEP2, CC2D1A, CRBN, MAN1B1, PRSS12, TRAPPC9, ZC3H14, CDH15, MED23, GATAD2B, FMN2, WASHC4, METTL23, NDST1, SETD5, MPDZ, VPS35, BDNF, ADGRG2, MED25, CLCN4, IL1RAPL1, NAA10, SLC16A2, BRWD3, ZDHHC9, RPS6KA3, FTSJ1, GDI1, UPF3B, UBE2A, TSPAN7, DLG3, ZNF711, AFF2, HUWE1, NLGN4X, CTNNB1, ARID1B, TBR1, AP1S2, KIRREL3, ADNP, PTCHD1, SHANK3, SETBP1, RAB39B, CUL4B, OPHN1, KDM5C, PAK3, ARHGEF9, GRIA3, FGD1, IQSEC2, ATRX, CNTNAP2, TCF4, GRIN1, SCN8A, PQBP1, DEAF1, TBC1D24, MBD5, CHD2, GRIN2B, SCN2A, SMC1A, SLC2A1, MEF2C, FOXG1, ARX, SLC6A8, SLC9A6, ACSL4, TUSC3, STXBP1, MECP2
Specificity
2 %
Genes
25 %
|
Mental retardation.
By Institute of Human Genetics Cologne University in Germany.
CASK, SCN2A
Specificity
50 %
Genes
13 %
|
Epileptic Encephalopathy, Early Infantile, 11.
By MGZ Medical Genetics Center in Germany.
SCN2A
Specificity
100 %
Genes
13 %
|
Benign Familial Neonatal / Infantile Seizures (BFNS/BFIS).
By MGZ Medical Genetics Center in Germany.
PRRT2, KCNQ3, KCNQ2, SCN2A
Specificity
25 %
Genes
13 %
|
SCN2A.
By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.
SCN2A
Specificity
100 %
Genes
13 %
|
Benign neonatal/infantile convulsions panel.
By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.
PRRT2, TBC1D24, KCNQ3, KCNQ2, SCN2A
Specificity
20 %
Genes
13 %
|
Early infantile epileptic encephalopathy type 11.
By Centogene AG - the Rare Disease Company in Germany.
SCN2A
Specificity
100 %
Genes
13 %
|
Convulsions, benign familial infantile, 3.
By Centogene AG - the Rare Disease Company in Germany.
SCN2A
Specificity
100 %
Genes
13 %
|
Dravet syndrome.
By Centogene AG - the Rare Disease Company in Germany.
SCN2A
Specificity
100 %
Genes
13 %
|
Ataxia and differential diagnoses Panel.
By CeGaT GmbH in Germany.
RPIA, POLH, NOP56, XPC, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, CHCHD10, RNF170, POLR3B, POLR3A, WDR81, XPA, TRNT1, PMPCA, RUBCN, SLC9A1, STUB1 , (...)
View the complete list with 184 more genes
RPIA, POLH, NOP56, XPC, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, CHCHD10, RNF170, POLR3B, POLR3A, WDR81, XPA, TRNT1, PMPCA, RUBCN, SLC9A1, STUB1, ERCC5, SCYL1, RNF216, RNASEH1, ELOVL5, PTRH2, DMXL2, PCNA, PIK3R5, GRID2, LAMA1, SLC52A2, ATCAY, BEAN1, CACNA1G, ATP2B3, ATP8A2, RARS, UBA5, COX20, CA8, CCDC88C, DNAJC3, MARS2, VLDLR, ARL13B, RPGRIP1L, ERCC4, CP, WNT1, GBA2, UCHL1, KIF1C, ERCC6, GMPPB, NKX2-1, NALCN, CLCN2, NEU1, PEX10, PRPS1, DNMT1, POLR1C, ERCC3, ERCC2, GFAP, KCNJ10, PNKP, SNAP25, KCNA2, DNAJC5, CTSF, ADGRG1, TSEN54, RELN, PRRT2, LMNB2, EPM2A, KCNC1, HCN1, FOLR1, SLC6A1, SCN2A, SLC19A3, PRICKLE1, NHLRC1, GOSR2, ATP1A3, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, TRAPPC11, SYNE1, VRK1, SETX, PNPLA6, BSCL2, ATN1, TBP, CACNA1A, ATXN7, ATXN10, ATXN3, ATXN2, PPP2R2B, AHI1, CSTB, EIF2B4, EIF2B2, EIF2B3, GJB1, TMEM216, PLA2G6, EIF2B5, CLN5, TTPA, SLC17A5, SACS, PEX7, PEX2, MTTP, CLN6, MRE11, ATM, ATXN1, NPC2, NPC1, EIF2B1, GBA, ARSA, PDHX, WWOX, TPP1, APTX, PMM2, CYP27A1, FASTKD2, FXN, GCDH, L2HGDH, GALC, DLAT, NAGLU, NDUFS7, PHYH, HEXB, ALDH5A1, HEXA, ABCB7, ALG6, SPG7, COQ2, PDP1, FLVCR1, DNAJC19, TSFM, DARS2, COQ8A, SPR, NUBPL, MTPAP, TTC19, ACO2, PDSS1, PDSS2, COQ9, OPA3, AFG3L2, POLG, CEP290, NPHP1, TMEM67, ELOVL4, CC2D2A, GLB1, WFS1, OPA1, AMACR, INPP5E, PAX6, PRKCG, TWNK, AUH, ATP7B, BTD, UQCRQ, ABHD12, AARS2, FMR1
Specificity
1 %
Genes
13 %
|
Single gene testing SCN2A.
By CeGaT GmbH in Germany.
SCN2A
Specificity
100 %
Genes
13 %
|
Benign Familial Neonatal Infantile Seizures, SCN2A.
By GGA - Galil Genetic Analysis in Israel.
SCN2A
Specificity
100 %
Genes
13 %
|
Epileptic encephalopathy, early infantile, 11; SCN2A.
By MVZ Dortmund Dr. Eberhard & Partner in Germany.
SCN2A
Specificity
100 %
Genes
13 %
|
Epileptic encephalopathy, early infantile 11.
By Praxis fuer Humangenetik Wien in Austria.
SCN2A
Specificity
100 %
Genes
13 %
|
Seizures, benign familial infantile 3.
By Praxis fuer Humangenetik Wien in Austria.
SCN2A
Specificity
100 %
Genes
13 %
|
Epileptic encephalopathy, early infantile 11.
By MedGene in Slovakia.
SCN2A
Specificity
100 %
Genes
13 %
|
Seizures, benign familial infantile 3.
By MedGene in Slovakia.
SCN2A
Specificity
100 %
Genes
13 %
|
Epilepsy of infancy, Severe myoclonic: SCN2A gene sequence analysis.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
SCN2A
Specificity
100 %
Genes
13 %
|
Rett, Syndrome.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
HERC2, BDNF, FOXP1, FOXP2, NTNG1, SHANK3, TCF4, KCNQ2, SCN2A, PLP1, MEF2C, FOXG1, CDKL5, ARX, ALDH5A1, STXBP1, MECP2, UBE3A
Specificity
12 %
Genes
25 %
|
SCN2A.
By Fulgent Genetics Fulgent Genetics in United States.
SCN2A
Specificity
100 %
Genes
13 %
|
Benign familial infantile seizures.
By Bioarray in Spain.
SCN2A
Specificity
100 %
Genes
13 %
|
SCN2A Gene Sequencing and Deletion/Duplication Analysis.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.
SCN2A
Specificity
100 %
Genes
13 %
|
BENIGN FAMILIAL INFANTILE EPILEPSY.
By Laboratorio de Genetica Clinica SL in Spain.
PRRT2, KCNQ3, KCNQ2, SCN2A
Specificity
25 %
Genes
13 %
|
Benign Familial Neonatal Infantile Seizures , Sequencing SCN2A Gene.
By Reference Laboratory Genetics in Spain.
SCN2A
Specificity
100 %
Genes
13 %
|
Rett Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 18 Genes.
By Reference Laboratory Genetics in Spain.
HERC2, BDNF, FOXP1, FOXP2, NTNG1, SHANK3, TCF4, KCNQ2, SCN2A, PLP1, MEF2C, FOXG1, CDKL5, ARX, ALDH5A1, STXBP1, MECP2, UBE3A
Specificity
12 %
Genes
25 %
|
Benign Familial Neonatal Infantile Seizures , Panel Massive Sequencing (NGS) 4 Genes.
By Reference Laboratory Genetics in Spain.
PRRT2, KCNQ3, KCNQ2, SCN2A
Specificity
25 %
Genes
13 %
|
Carbamazepine response.
By Xcode Life Xcode Life in India.
HLA-A, HLA-B, SCN2A
Specificity
34 %
Genes
13 %
|
Lamotrigine response.
By Xcode Life Xcode Life in India.
SCN2A
Specificity
100 %
Genes
13 %
|
Phenytoin response.
By Xcode Life Xcode Life in India.
HLA-B, SCN2A
Specificity
50 %
Genes
13 %
|
Brugada Syndrome Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.
PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, SCN5A, HCN4, SCN1B, KCNH2, KCND3
Specificity
7 %
Genes
13 %
|
Comprehensive Cardiac Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.
DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6 , (...)
View the complete list with 87 more genes
DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, A2ML1, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, MYH7, DES, TTN, CAV3, FKRP, LMNA, FKTN, CBL, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, ALMS1, SLC22A5, TAZ, TMEM70, MTO1, RAF1, CRYAB, DSP, GAA, ACADVL, AGL, TTR
Specificity
1 %
Genes
13 %
|
Cardiomyopathy Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
TMPO, TXNRD2, OBSCN, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2 , (...)
View the complete list with 92 more genes
TMPO, TXNRD2, OBSCN, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, SCN4B, AKAP9, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, TRPM4, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, SPRED1, LAMP2, CACNA1C, MED12, KCNQ1, KCNE1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, CBL, MAP2K2, SOS1, SHOC2, PTPN11, PLOD1, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, COL5A2, COL5A1, FXN, CBS, SURF1, COX15, TAZ, SCO2, FBN1, RAF1, CRYAB, DSP, EYA4, COL3A1, GAA, TTR
Specificity
1 %
Genes
13 %
|
Brugada Syndrome.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
GPD1L, CACNB2, KCNE3, SCN3B, TRPM4, CACNA1C, SCN5A, HCN4, SCN1B
Specificity
12 %
Genes
13 %
|
Comprehensive Arrhythmias Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, TRPM4, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B , (...)
View the complete list with 3 more genes
SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, TRPM4, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, CAV3
Specificity
5 %
Genes
13 %
|
Atrioventricular Block Panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
NKX2-5, TRPM4, SCN5A, SCN1B, EMD, DES, LMNA
Specificity
15 %
Genes
13 %
|
Atrial Fibrillation Panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
GJA5, NPPA, NUP155, KCNA5, KCNE2, SCN3B, SCN2B, ABCC9, KCNQ1, KCNE1, SCN5A, SCN1B, KCNH2, KCND3, KCNJ2, LMNA
Specificity
7 %
Genes
13 %
|
Brugada Syndrome Panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
RANGRF, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, KCNJ8, SLMAP, TRPM4, CACNA1C, CACNA2D1, SCN5A, HCN4, SCN1B, KCND3
Specificity
7 %
Genes
13 %
|
Cardiac Channelopathy Panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
RANGRF, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP , (...)
View the complete list with 12 more genes
RANGRF, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3
Specificity
4 %
Genes
13 %
|
Cardiac Arrhythmia Gene Panel.
By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital in New Zealand.
SCN10A, MYL2, DSC2, RBM20, TNNT2, TPM1, DSG2, MYH6, TNNI3, KCNA5, CASQ2, KCNE2, RYR2, PKP2, CACNB2, CACNA1C, KCNQ1, KCNE1, SCN5A, SCN1B , (...)
View the complete list with 8 more genes
SCN10A, MYL2, DSC2, RBM20, TNNT2, TPM1, DSG2, MYH6, TNNI3, KCNA5, CASQ2, KCNE2, RYR2, PKP2, CACNB2, CACNA1C, KCNQ1, KCNE1, SCN5A, SCN1B, KCNH2, KCNJ2, MYBPC3, BAG3, MYH7, LMNA, GLA, DSP
Specificity
4 %
Genes
13 %
|
SCN1B.
By Institute for Human Genetics University Clinic Freiburg in Germany.
SCN1B
Specificity
100 %
Genes
13 %
|
Cardiomyopathy and Arrhythmia Panel, Sequencing (85 Genes) and Deletion/Duplication (83 Genes).
By ARUP Laboratories, Molecular Genetics and Genomics in United States.
MYH10, CORIN, KLHL3, TMPO, OBSCN, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1, MYPN, JUP , (...)
View the complete list with 65 more genes
MYH10, CORIN, KLHL3, TMPO, OBSCN, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, LAMA4, TGFB3, MYLK2, ACTC1, ILK, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, TRPM4, LAMP2, CACNA1C, KCNQ1, KCNE1, SCN5A, SCN1B, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, SYNE1, MYBPC3, LDB3, MYOT, MYH7, DES, TTN, CAV3, FKRP, LMNA, SGCG, SGCB, SGCA, FKTN, GLA, DMD, FXN, COX15, TAZ, SCO2, SLC25A4, DSP, EYA4, GAA, TTR
Specificity
2 %
Genes
13 %
|
Brugada Syndrome Sequencing Panel.
By GeneDx in United States.
GPD1L, CACNB2, KCNE3, SCN3B, CACNA1C, SCN5A, SCN1B
Specificity
15 %
Genes
13 %
|
Comprehensive Arrhythmia Panel.
By GeneDx in United States.
DSC2, RANGRF, JUP, DSG2, NKX2-5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, CACNA1C , (...)
View the complete list with 10 more genes
DSC2, RANGRF, JUP, DSG2, NKX2-5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, TMEM43, CAV3, DSP
Specificity
4 %
Genes
13 %
|
CardioNext with TTN.
By Ambry Genetics in United States.
TBX20, GATA4, TMPO, TXNRD2, TBX5, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2 , (...)
View the complete list with 65 more genes
TBX20, GATA4, TMPO, TXNRD2, TBX5, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, TGFB3, ACTC1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, TRPM4, LAMP2, CACNA1C, KCNQ1, KCNE1, TBX1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, PTPN11, GLA, DMD, FXN, TAZ, RAF1, CRYAB, DSP, JAG1, EYA4, TTR
Specificity
2 %
Genes
13 %
|
CustomNext: Cardio.
By Ambry Genetics in United States.
TBX20, GATA4, TMPO, TXNRD2, TBX5, PRKG1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP , (...)
View the complete list with 86 more genes
TBX20, GATA4, TMPO, TXNRD2, TBX5, PRKG1, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, TGFB3, ACTC1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, TRPM4, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, LAMP2, CACNA1C, MED12, KCNQ1, KCNE1, TBX1, CACNA2D1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, SMAD4, PTPN11, PLOD1, GLA, DMD, COL5A2, COL5A1, FXN, CBS, TAZ, FBN1, RAF1, CRYAB, DSP, JAG1, EYA4, COL3A1, TTR
Specificity
1 %
Genes
13 %
|
RhythmNext.
By Ambry Genetics in United States.
TBX5, DSC2, JUP, DSG2, NKX2-5, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B , (...)
View the complete list with 16 more genes
TBX5, DSC2, JUP, DSG2, NKX2-5, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, TRPM4, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TMEM43, CAV3, LMNA, DSP
Specificity
3 %
Genes
13 %
|
RhythmFirst reflex RhythmNext.
By Ambry Genetics in United States.
TBX5, DSC2, JUP, DSG2, NKX2-5, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B , (...)
View the complete list with 16 more genes
TBX5, DSC2, JUP, DSG2, NKX2-5, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, TRPM4, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TMEM43, CAV3, LMNA, DSP
Specificity
3 %
Genes
13 %
|
Cardiac Arrhythmia NGS Multi-Gene Panel (48 genes), Sequence & CNV analysis.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.
CALM3, ASPH, KCNE5, SCN10A, GJA5, NPPA, DPP6, TNNT2, RANGRF, PLN, PRKAG2, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2 , (...)
View the complete list with 27 more genes
CALM3, ASPH, KCNE5, SCN10A, GJA5, NPPA, DPP6, TNNT2, RANGRF, PLN, PRKAG2, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3, LMNA
Specificity
3 %
Genes
13 %
|
SCN1B. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
SCN1B
Specificity
100 %
Genes
13 %
|
Brugada syndrome (NGS panel for 7 genes).
By CGC Genetics in Portugal.
GPD1L, CACNB2, KCNE3, SCN3B, CACNA1C, SCN5A, SCN1B
Specificity
15 %
Genes
13 %
|
Cardiac conduction changes (NGS panel for 27 genes).
By CGC Genetics in Portugal.
TNNI3K, ALG10, PRKAG2, MYH6, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, CACNA1C, KCNQ1 , (...)
View the complete list with 7 more genes
TNNI3K, ALG10, PRKAG2, MYH6, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, CAV3
Specificity
4 %
Genes
13 %
|
Generalized epilepsy with febrile seizures plus type 1 (GEFS+, sequence analysis of SCN1B gene).
By CGC Genetics in Portugal.
SCN1B
Specificity
100 %
Genes
13 %
|
Cardiomyopathy and changes in cardiac conduction (NGS panel for 59 genes).
By CGC Genetics in Portugal.
TNNI3K, ALG10, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1 , (...)
View the complete list with 39 more genes
TNNI3K, ALG10, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, MYLK2, ACTC1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, LAMP2, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, SGCD, TCAP, TMEM43, MYBPC3, LDB3, MYH7, DES, TTN, CAV3, LMNA, GLA, DSP
Specificity
2 %
Genes
13 %
|
Brugada Syndrome type 5.
By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine in United States.
SCN1B
Specificity
100 %
Genes
13 %
|
Brugada Syndrome Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
KCNE5, RANGRF, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, KCNJ8, SLMAP, TRPM4, CACNA1C, CACNA2D1, SCN5A, HCN4, SCN1B, KCND3
Specificity
7 %
Genes
13 %
|
Familial Atrial Fibrillation Syndrome Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
KCNE5, GJA5, NPPA, KCNA5, KCNE2, SCN3B, SCN2B, ABCC9, KCNQ1, KCNE1, SCN5A, SCN1B, KCNH2, KCND3, KCNJ2
Specificity
7 %
Genes
13 %
|
Brugada Syndrome via the SCN1B Gene.
By PreventionGenetics PreventionGenetics in United States.
SCN1B
Specificity
100 %
Genes
13 %
|
Comprehensive Cardiology Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
ZBTB17, SREBF2, TRIM63, ZHX3, KLF10, TBX3, CALR3, MIB1, CAVIN4, CREB3L3, APOA4, GJA5, NPPA, GPIHBP1, APOC2, LMF1, LPL, APOA5, LDLRAP1, CETP , (...)
View the complete list with 144 more genes
ZBTB17, SREBF2, TRIM63, ZHX3, KLF10, TBX3, CALR3, MIB1, CAVIN4, CREB3L3, APOA4, GJA5, NPPA, GPIHBP1, APOC2, LMF1, LPL, APOA5, LDLRAP1, CETP, CRELD1, ZIC3, TMPO, ABCG8, ABCG5, FHL2, TBX5, SALL4, DPP6, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, ILK, PDLIM3, KCNA5, EFEMP2, LTBP2, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, TRPM4, MYH11, SLC2A10, ACTA2, FBN2, MYLK, TGFBR2, SMAD3, NOTCH1, TGFB2, NODAL, LAMP2, CACNA1C, KCNQ1, KCNE1, MYO6, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, LAMA2, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, MYBPC3, RYR1, SELENON, FHL1, BAG3, LDB3, MYH7, DES, TTN, CAV3, FKRP, APOE, LMNA, HSPB8, SGCG, FKTN, PRKAR1A, SMAD4, CBL, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, LDLR, KRAS, HRAS, GLA, DMD, BRAF, DOLK, COL5A2, ALMS1, CBS, COX15, TAZ, SCO2, DNAJC19, GCKR, FBN1, RAF1, HADHA, CRYAB, SLC25A4, DSP, JAG1, EYA4, ELN, COL3A1, GAA, TTR, HFE
Specificity
1 %
Genes
13 %
|
Generalized Epilepsy with Febrile Seizures Plus and Dravet syndrome via the SCN1B Gene.
By PreventionGenetics PreventionGenetics in United States.
SCN1B
Specificity
100 %
Genes
13 %
|
Comprehensive Cardiac Arrhythmia Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
MYL4, TNNI3K, CALM3, KCNE5, SCN10A, GJA5, NPPA, DSC2, RANGRF, JUP, DSG2, PLN, PRKAG2, MYH6, TNNI3, NKX2-5, TGFB3, KCNA5, KCNK3, SCN4B , (...)
View the complete list with 35 more genes
MYL4, TNNI3K, CALM3, KCNE5, SCN10A, GJA5, NPPA, DSC2, RANGRF, JUP, DSG2, PLN, PRKAG2, MYH6, TNNI3, NKX2-5, TGFB3, KCNA5, KCNK3, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TMEM43, LDB3, DES, CAV3, DSP
Specificity
2 %
Genes
13 %
|
Atrioventricular block Deletion/ Duplication panel.
By Connective Tissue Gene Tests in United States.
NKX2-5, TRPM4, SCN5A, SCN1B, EMD, DES, LMNA
Specificity
15 %
Genes
13 %
|
Brugada syndrome and related disorders Deletion / Duplication panel.
By Connective Tissue Gene Tests in United States.
KCND2, KCNE5, SCN10A, FGF12, SEMA3A, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, CACNA1C, CACNA2D1, SCN5A, HCN4 , (...)
View the complete list with 6 more genes
KCND2, KCNE5, SCN10A, FGF12, SEMA3A, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, CACNA1C, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, CAV3, GLA, GAA
Specificity
4 %
Genes
13 %
|
Brugada syndrome and related disorders NGS panel.
By Connective Tissue Gene Tests in United States.
KCND2, KCNE5, SCN10A, FGF12, SEMA3A, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, CACNA1C, CACNA2D1, SCN5A, HCN4 , (...)
View the complete list with 6 more genes
KCND2, KCNE5, SCN10A, FGF12, SEMA3A, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, CACNA1C, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, CAV3, GLA, GAA
Specificity
4 %
Genes
13 %
|
Cardiac channelopathy Deletion/ Duplication panel.
By Connective Tissue Gene Tests in United States.
TECRL, KCND2, CALM3, KCNE5, SCN10A, FGF12, SEMA3A, NOS1AP, RANGRF, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2 , (...)
View the complete list with 21 more genes
TECRL, KCND2, CALM3, KCNE5, SCN10A, FGF12, SEMA3A, NOS1AP, RANGRF, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3
Specificity
3 %
Genes
13 %
|
Brugada syndrome and related disorders Comprehensive panel.
By Connective Tissue Gene Tests in United States.
KCND2, KCNE5, SCN10A, FGF12, SEMA3A, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, CACNA1C, CACNA2D1, SCN5A, HCN4 , (...)
View the complete list with 6 more genes
KCND2, KCNE5, SCN10A, FGF12, SEMA3A, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, CACNA1C, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, CAV3, GLA, GAA
Specificity
4 %
Genes
13 %
|
Cardiac channelopathy Comprehensive panel.
By Connective Tissue Gene Tests in United States.
TECRL, KCND2, CALM3, KCNE5, SCN10A, FGF12, SEMA3A, NOS1AP, RANGRF, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2 , (...)
View the complete list with 21 more genes
TECRL, KCND2, CALM3, KCNE5, SCN10A, FGF12, SEMA3A, NOS1AP, RANGRF, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3
Specificity
3 %
Genes
13 %
|
Cardiac channelopathy NGS panel.
By Connective Tissue Gene Tests in United States.
TECRL, KCND2, CALM3, KCNE5, SCN10A, FGF12, SEMA3A, NOS1AP, RANGRF, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2 , (...)
View the complete list with 21 more genes
TECRL, KCND2, CALM3, KCNE5, SCN10A, FGF12, SEMA3A, NOS1AP, RANGRF, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3
Specificity
3 %
Genes
13 %
|
SCN1B-Related Generalized Epilepsy with Febrile Seizures Plus.
By MGZ Medical Genetics Center in Germany.
SCN1B
Specificity
100 %
Genes
13 %
|
Brugada Syndrome 5.
By MGZ Medical Genetics Center in Germany.
SCN1B
Specificity
100 %
Genes
13 %
|
Cardiac conduction abnormalities panel.
By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.
DSC2, JUP, DSG2, PLN, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, KCNQ1 , (...)
View the complete list with 13 more genes
DSC2, JUP, DSG2, PLN, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, TMEM43, DES, CACNA1A, CAV3, LMNA, DSP
Specificity
4 %
Genes
13 %
|
Generalized epilepsy with febrile seizures plus type 1.
By Centogene AG - the Rare Disease Company in Germany.
SCN1B
Specificity
100 %
Genes
13 %
|
Brugada syndrome panel.
By Centogene AG - the Rare Disease Company in Germany.
GPD1L, CACNB2, KCNE3, SCN3B, SLMAP, CACNA1C, SCN5A, HCN4, SCN1B
Specificity
12 %
Genes
13 %
|
Brugada syndrome type 5.
By Centogene AG - the Rare Disease Company in Germany.
SCN1B
Specificity
100 %
Genes
13 %
|
Arrhythmia, familial panel.
By Centogene AG - the Rare Disease Company in Germany.
NPPA, DSC2, JUP, DSG2, PLN, TGFB3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, CACNA1C , (...)
View the complete list with 9 more genes
NPPA, DSC2, JUP, DSG2, PLN, TGFB3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, CACNA1C, KCNQ1, KCNE1, SCN5A, SCN1B, KCNH2, KCNJ2, TMEM43, CAV3, DSP
Specificity
4 %
Genes
13 %
|
Brugada Syndrome Panel.
By CeGaT GmbH in Germany.
SCN10A, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, TRPM4, CACNA1C, CACNA2D1, SCN5A, HCN4, SCN1B, KCND3
Specificity
8 %
Genes
13 %
|
Atrial Fibrillation and Short QT Syndrome Panel.
By CeGaT GmbH in Germany.
GJA5, NPPA, KCNA5, SCN4B, KCNE2, CACNB2, SCN3B, SCN2B, ABCC9, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, SCN1B, KCNH2, KCNJ2
Specificity
6 %
Genes
13 %
|
Single gene testing SCN1B.
By CeGaT GmbH in Germany.
SCN1B
Specificity
100 %
Genes
13 %
|
Brugada Syndrome 5, SCN1B.
By GGA - Galil Genetic Analysis in Israel.
SCN1B
Specificity
100 %
Genes
13 %
|
Atrial fibrillation, familial, 13; SCN1B.
By MVZ Dortmund Dr. Eberhard & Partner in Germany.
SCN1B
Specificity
100 %
Genes
13 %
|
Brugada Syndrome 5, Cardiac conduction defect, nonspecific, SCN1B.
By MVZ Dortmund Dr. Eberhard & Partner in Germany.
SCN1B
Specificity
100 %
Genes
13 %
|
Cardio-channelopathy-gene-panel.
By MVZ Dortmund Dr. Eberhard & Partner in Germany.
GJA5, NPPA, GJA1, DPP6, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B , (...)
View the complete list with 13 more genes
GJA5, NPPA, GJA1, DPP6, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, TRPM4, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3
Specificity
4 %
Genes
13 %
|
Brugada Syndrome.
By Asper Biogene Asper Biogene LLC in Estonia.
GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, TRPM4, CACNA1C, SCN5A, HCN4, SCN1B, KCND3
Specificity
10 %
Genes
13 %
|
Arrhythmia.
By Asper Biogene Asper Biogene LLC in Estonia.
GJA5, NPPA, DSC2, JUP, DSG2, PLN, NKX2-5, TGFB3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3 , (...)
View the complete list with 18 more genes
GJA5, NPPA, DSC2, JUP, DSG2, PLN, NKX2-5, TGFB3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TMEM43, DES, CAV3, LMNA, DSP
Specificity
3 %
Genes
13 %
|
SCN1B gene sequencing.
By Health in Code in Spain.
SCN1B
Specificity
100 %
Genes
13 %
|
Long QT Syndrome Extended Panel.
By Health in Code in Spain.
KCNE5, FHL2, KCNA5, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, CALM2, CALM1, RYR2, ANK2, KCNE3, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2 , (...)
View the complete list with 3 more genes
KCNE5, FHL2, KCNA5, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, CALM2, CALM1, RYR2, ANK2, KCNE3, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3
Specificity
5 %
Genes
13 %
|
Auricular Fibrillation Panel.
By Health in Code in Spain.
KCNE5, SCN10A, GJA5, NPPA, GATA6, GATA4, GJA1, TBX5, JPH2, TNNT2, TPM1, TNNI3, NKX2-5, ACTC1, KCNA5, KCNK3, SCN4B, KCNJ5, KCNE2, RYR2 , (...)
View the complete list with 18 more genes
KCNE5, SCN10A, GJA5, NPPA, GATA6, GATA4, GJA1, TBX5, JPH2, TNNT2, TPM1, TNNI3, NKX2-5, ACTC1, KCNA5, KCNK3, SCN4B, KCNJ5, KCNE2, RYR2, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, EMD, LMNA, PITX2, TTR
Specificity
3 %
Genes
13 %
|
J Wave Syndrome Panel.
By Health in Code in Spain.
KCNE5, SCN10A, ANK3, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, CACNA1D, CACNA2D1, SCN5A, HCN4 , (...)
View the complete list with 3 more genes
KCNE5, SCN10A, ANK3, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3
Specificity
5 %
Genes
13 %
|
Inherited Cardiovascular Diseases and Sudden Death Panel.
By Health in Code in Spain.
FHOD3, FOXD4, SMAD1, TRIM63, KLF10, LRP6, CALR3, MIB1, TBX20, CAVIN4, APOC3, ADAMTSL4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA , (...)
View the complete list with 193 more genes
FHOD3, FOXD4, SMAD1, TRIM63, KLF10, LRP6, CALR3, MIB1, TBX20, CAVIN4, APOC3, ADAMTSL4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA, GATA6, APOA5, APOB, PCSK9, CETP, CRELD1, GATA4, TMPO, TXNRD2, FHL2, CTF1, GJA1, TBX5, PRKG1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, PDLIM3, BMPR2, KCNA5, SMAD9, CAV1, KCNK3, GDF2, BMPR1B, ACVRL1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, SPRED1, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA1D, TBX1, CACNA2D1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, LAMA2, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, MYOT, FLNC, MYH7, DES, TTN, CAV3, FKRP, NOTCH3, PSEN2, LMNA, CAPN3, SGCB, SGCA, FKTN, ENG, SMAD4, CBL, MAP2K2, SOS1, SHOC2, PTPN11, PLOD1, NRAS, MAP2K1, LDLR, KRAS, HRAS, GLA, DMD, BRAF, DOLK, COL5A2, COL5A1, ALMS1, PMM2, SLC22A5, COX6B1, CBS, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, COQ2, GFM1, DNAJC19, TSFM, MRPS22, FAH, TMEM70, AGK, LIAS, MRPL3, MTO1, FBN1, RAF1, CRYAB, SLC25A4, DLD, DSP, JAG1, PITX2, GLB1, GNPTAB, EYA4, ELN, PSEN1, COL3A1, COL1A2, COL1A1, GAA, ATPAF2, ACADVL, AGL, ACADM, ACAD9, AARS2, TTR, HFE
Specificity
1 %
Genes
13 %
|
Brugada Syndrome Panel.
By Health in Code in Spain.
KCNE5, SCN10A, ANK3, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, CACNA1D, CACNA2D1, SCN5A, HCN4 , (...)
View the complete list with 3 more genes
KCNE5, SCN10A, ANK3, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3
Specificity
5 %
Genes
13 %
|
Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease.
By Health in Code in Spain.
FHOD3, TRIM63, KLF10, CALR3, CAVIN4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA, GATA6, GATA4, FHL2, CTF1, GJA1, TBX5, VCL , (...)
View the complete list with 121 more genes
FHOD3, TRIM63, KLF10, CALR3, CAVIN4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA, GATA6, GATA4, FHL2, CTF1, GJA1, TBX5, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, MYOZ2, JPH2, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, TGFB3, MYLK2, ACTC1, PDLIM3, KCNA5, KCNK3, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TCAP, EMD, TMEM43, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, FLNC, MYH7, DES, TTN, CAV3, LMNA, MAP2K2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, BRAF, PMM2, SLC22A5, COX6B1, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, COQ2, GFM1, TSFM, MRPS22, FAH, TMEM70, AGK, LIAS, MRPL3, MTO1, RAF1, CRYAB, SLC25A4, DLD, DSP, PITX2, GLB1, GNPTAB, GAA, ATPAF2, ACADVL, AGL, ACAD9, AARS2, TTR, HFE
Specificity
1 %
Genes
13 %
|
Cardiac Conduction Disease Panel.
By Health in Code in Spain.
CAVIN4, SCN10A, GJA5, NPPA, TBX5, PRKAG2, MYH6, NKX2-5, ACTC1, SCN4B, KCNE2, TRPM4, LAMP2, KCNQ1, CACNA1D, SCN5A, HCN4, SCN1B, KCNH2, EMD , (...)
View the complete list with 8 more genes
CAVIN4, SCN10A, GJA5, NPPA, TBX5, PRKAG2, MYH6, NKX2-5, ACTC1, SCN4B, KCNE2, TRPM4, LAMP2, KCNQ1, CACNA1D, SCN5A, HCN4, SCN1B, KCNH2, EMD, LDB3, MYH7, DES, LMNA, GLA, GAA, TTR, HFE
Specificity
4 %
Genes
13 %
|
Ventricular Arrythmia & Sudden Death Panel without Structural Heart Disease.
By Health in Code in Spain.
KCNE5, CTNNA3, SCN10A, ANK3, DSC2, TNNT2, RANGRF, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN , (...)
View the complete list with 33 more genes
KCNE5, CTNNA3, SCN10A, ANK3, DSC2, TNNT2, RANGRF, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TMEM43, FLNC, DES, CAV3, LMNA, DSP, ACADM
Specificity
2 %
Genes
13 %
|
Long QT Syndrome Extended Panel.
By Health in Code in Spain.
KCND2, CALM3, KCNE5, FHL2, NOS1AP, KCNA5, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, KCNE3, CACNA1C, KCNQ1, KCNE1 , (...)
View the complete list with 8 more genes
KCND2, CALM3, KCNE5, FHL2, NOS1AP, KCNA5, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, KCNE3, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3, CAVIN1
Specificity
4 %
Genes
13 %
|
Ventricular arrhythmia and sudden death without structural heart disease.
By Health in Code in Spain.
IRX3, KCNK17, KCND2, TNNI3K, CALM3, CAVIN4, KCNE5, SCN10A, FGF12, ANK3, GJA5, NPPA, FHL2, TBX5, NOS1AP, DSC2, TNNT2, RANGRF, JUP, DSG2 , (...)
View the complete list with 57 more genes
IRX3, KCNK17, KCND2, TNNI3K, CALM3, CAVIN4, KCNE5, SCN10A, FGF12, ANK3, GJA5, NPPA, FHL2, TBX5, NOS1AP, DSC2, TNNT2, RANGRF, JUP, DSG2, PLN, PRKAG2, MYH6, TNNI3, TNNC1, NKX2-5, ACTC1, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, EMD, SYNE2, TMEM43, SYNE1, LDB3, FLNC, MYH7, DES, CAV3, LMNA, GLA, CAVIN1, DSP, GAA, TTR, HFE
Specificity
2 %
Genes
13 %
|
Cardiovascular Diseases_General Panel.
By Health in Code in Spain.
CH25H, BMP10, TRIB1, TOPBP1, ISL1, GREM2, HAND2, SLC25A40, NNT, PPARA, MYOM1, LPA, SLC22A8, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, SMAD1 , (...)
View the complete list with 360 more genes
CH25H, BMP10, TRIB1, TOPBP1, ISL1, GREM2, HAND2, SLC25A40, NNT, PPARA, MYOM1, LPA, SLC22A8, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, SMAD1, IRX4, MCTP2, CYP3A5, NKX2-6, MRPL44, KCND2, MED13L, COA6, TRIM63, KLF10, PKP4, LRP6, INSIG2, CYP3A4, TNNI3K, TAB2, SMAD6, TFAP2B, SAR1B, MYLIP, CALM3, ASPH, CALR3, MIB1, TBX20, EIF2AK4, SLCO1B1, CAVIN4, CHRM2, PLTP, LIPC, APOC3, GATA5, ADAMTSL4, KCNE5, CTNNA3, SCN10A, COA5, FGF12, OBSL1, ANK3, ZFPM2, AGPAT2, PLIN1, CIDEC, TBC1D4, NOTCH2, GJA5, NPPA, COL7A1, TDGF1, XK, CFC1, INSR, PDGFRA, EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, BLK, KLF11, PAX4, RFX6, AKT2, SLC2A2, ABCA1, LCAT, ABCG1, ANGPTL3, GPIHBP1, APOC2, LMF1, LPL, APOA5, APOB, LDLRAP1, PCSK9, APOA1, SCARB1, CETP, ACVR2B, CRELD1, LEFTY2, CITED2, NPC1L1, IER3IP1, EVC, GATA4, GDF1, ZIC3, TMPO, TXNRD2, OBSCN, CYP2D6, ABCG8, ABCG5, B3GAT3, FHL2, GJA1, EP300, TBX5, SALL4, NOS1AP, MFAP5, PRKG1, ZMPSTE24, SPEG, TOR1AIP1, AMPD1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, BMPR2, KCNA5, EFEMP2, SMAD9, CAV1, KCNK3, GDF2, BMPR1B, ACVRL1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, ACVR1, CHST14, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FOXH1, NODAL, ABCB1, A2ML1, RRAS, RASA2, SPRED1, ZDHHC9, UPF3B, LAMP2, FOXP3, RASA1, LZTR1, CTNNB1, CACNA1C, EHMT1, FOXP1, VCL, MED12, KCNQ1, KCNE1, CACNA1D, TBX1, KANSL1, CACNA2D1, KMT2D, FLNA, SCN5A, HCN4, SCN1B, KCNH2, LAMA2, KCND3, KCNJ2, SGCD, TCAP, EMD, SYNE2, TMEM43, SYNE1, ACTA1, MYBPC3, RYR1, FHL1, BAG3, BSCL2, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, PDX1, INS, KCNJ11, CEL, NF1, CAV3, FKRP, NOTCH3, APOE, PSEN2, LMNA, CAPN3, SGCB, SGCA, MTTP, FKTN, ADAMTS2, ENG, SMAD4, BMPR1A, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, PLOD1, NRAS, MAP2K1, LIPA, LEP, LDLR, KRAS, HRAS, GLA, FOXF1, DMD, CREBBP, CHD7, BRAF, DOLK, SDHA, COL5A2, COL5A1, ZFHX3, ALMS1, PMM2, SLC22A5, COX6B1, FXN, PYGM, CBS, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, SCO2, COQ2, MEF2A, GFM1, DNAJC19, TSFM, PNPLA2, SLC25A3, MRPS22, SLC39A13, CAVIN1, IDH2, FAH, TMEM70, DNM1L, AGK, GPD1, LIAS, MRPL3, MTO1, FBN1, OPA3, RAF1, CRYAB, FOXRED1, GCK, SLC25A4, DLD, DSP, PCDH15, NPHP4, JAG1, PITX2, FOXC1, GLB1, GNPTAB, WFS1, CPT2, EYA4, ELN, HNF1B, PSEN1, ELAC2, COL3A1, COL1A2, COL1A1, PPARG, NEUROD1, HNF1A, GAA, B4GALT7, ATPAF2, ATP7A, ATP5F1E, ACADVL, AGL, ACAD9, AARS2, TTR, HNF4A, HFE
Specificity
1 %
Genes
13 %
|
Cardiac conduction disease Panel.
By Health in Code in Spain.
IRX3, KCNK17, TNNI3K, CAVIN4, SCN10A, GJA5, NPPA, TBX5, PRKAG2, MYH6, NKX2-5, ACTC1, SCN4B, KCNE2, TRPM4, LAMP2, KCNQ1, CACNA1D, SCN5A, HCN4 , (...)
View the complete list with 14 more genes
IRX3, KCNK17, TNNI3K, CAVIN4, SCN10A, GJA5, NPPA, TBX5, PRKAG2, MYH6, NKX2-5, ACTC1, SCN4B, KCNE2, TRPM4, LAMP2, KCNQ1, CACNA1D, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, EMD, SYNE2, SYNE1, LDB3, MYH7, DES, LMNA, GLA, GAA, TTR, HFE
Specificity
3 %
Genes
13 %
|
Atrial fibrillation Panel.
By Health in Code in Spain.
GREM2, NKX2-6, TNNI3K, GATA5, KCNE5, SCN10A, GJA5, NPPA, GATA6, GATA4, GJA1, TBX5, JPH2, TNNT2, TPM1, TNNI3, NKX2-5, ACTC1, KCNA5, KCNK3 , (...)
View the complete list with 23 more genes
GREM2, NKX2-6, TNNI3K, GATA5, KCNE5, SCN10A, GJA5, NPPA, GATA6, GATA4, GJA1, TBX5, JPH2, TNNT2, TPM1, TNNI3, NKX2-5, ACTC1, KCNA5, KCNK3, SCN4B, KCNJ5, KCNE2, RYR2, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, EMD, LMNA, ZFHX3, PITX2, TTR
Specificity
3 %
Genes
13 %
|
Brugada syndrome / J wave syndrome.
By Health in Code in Spain.
KCND2, KCNE5, SCN10A, FGF12, ANK3, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, CACNA1D, CACNA2D1 , (...)
View the complete list with 5 more genes
KCND2, KCNE5, SCN10A, FGF12, ANK3, RANGRF, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, CACNA1C, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCND3
Specificity
4 %
Genes
13 %
|
Arrhythmia General Panel.
By Health in Code in Spain.
GREM2, NNT, MYOM1, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, NKX2-6, MRPL44, KCND2, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALM3, CALR3, MIB1 , (...)
View the complete list with 198 more genes
GREM2, NNT, MYOM1, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, NKX2-6, MRPL44, KCND2, COA6, TRIM63, KLF10, PKP4, TNNI3K, CALM3, CALR3, MIB1, TBX20, CAVIN4, CHRM2, GATA5, KCNE5, CTNNA3, SCN10A, COA5, FGF12, OBSL1, ANK3, AGPAT2, GJA5, NPPA, COL7A1, XK, GATA6, GATA4, TMPO, TXNRD2, OBSCN, FHL2, GJA1, TBX5, NOS1AP, VCL, SPEG, TOR1AIP1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, KCNA5, KCNK3, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, MYH11, NOTCH1, A2ML1, RRAS, RASA2, SPRED1, LAMP2, LZTR1, CTNNB1, CACNA1C, KCNQ1, KCNE1, CACNA1D, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, LAMA2, KCND3, KCNJ2, SGCD, TCAP, EMD, SYNE2, TMEM43, SYNE1, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, SCN4B, MYOT, ANO5, FLNC, MYH7, DES, TTN, NF1, CAV3, FKRP, PSEN2, LMNA, CAPN3, SGCB, SGCA, FKTN, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, LDLR, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ZFHX3, ALMS1, PMM2, SLC22A5, COX6B1, FXN, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, SCO2, COQ2, GFM1, DNAJC19, TSFM, SLC25A3, MRPS22, CAVIN1, IDH2, FAH, TMEM70, DNM1L, AGK, LIAS, MRPL3, MTO1, OPA3, RAF1, CRYAB, FOXRED1, SLC25A4, DLD, DSP, PITX2, GLB1, GNPTAB, EYA4, PSEN1, ELAC2, GAA, ATPAF2, ATP5F1E, ACADVL, AGL, ACAD9, AARS2, TTR, HFE
Specificity
1 %
Genes
13 %
|
Test for Brugada Syndrome 5.
By Secugen SL in Spain.
SCN1B
Specificity
100 %
Genes
13 %
|
Brugada syndrome 5.
By Praxis fuer Humangenetik Wien in Austria.
SCN1B
Specificity
100 %
Genes
13 %
|
Epilepsy, generalized with febrile seizures plus (GEFS+) 1.
By Praxis fuer Humangenetik Wien in Austria.
SCN1B
Specificity
100 %
Genes
13 %
|
Brugada syndrome 5.
By MedGene in Slovakia.
SCN1B
Specificity
100 %
Genes
13 %
|
Epilepsy, generalized with febrile seizures plus (GEFS+) 1.
By MedGene in Slovakia.
SCN1B
Specificity
100 %
Genes
13 %
|
Epilepsy with febrile seizures plus, Generalized: SCN1B gene sequence analysis.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
SCN1B
Specificity
100 %
Genes
13 %
|
BRUGADA SYNDROME.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
KCNE5, RANGRF, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, TRPM4, CACNA1C, CACNA2D1, SCN5A, HCN4, SCN1B, KCND3
Specificity
8 %
Genes
13 %
|
LONG QT SYNDROME.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
KCNE5, FHL2, NOS1AP, KCNA5, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2 , (...)
View the complete list with 3 more genes
KCNE5, FHL2, NOS1AP, KCNA5, SCN4B, AKAP9, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3
Specificity
5 %
Genes
13 %
|
Brugada Syndrome: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
GPD1L, CACNB2, KCNE3, SCN3B, CACNA1C, SCN5A, HCN4, SCN1B
Specificity
13 %
Genes
13 %
|
Arrhythmias: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
CTNNA3, GJA5, NPPA, DSC2, RANGRF, JUP, DSG2, NKX2-5, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2 , (...)
View the complete list with 17 more genes
CTNNA3, GJA5, NPPA, DSC2, RANGRF, JUP, DSG2, NKX2-5, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, TRPM4, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TMEM43, DSP
Specificity
3 %
Genes
13 %
|
Comprehensive Cardiovascular: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
CTNNA3, GJA5, NPPA, TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN , (...)
View the complete list with 97 more genes
CTNNA3, GJA5, NPPA, TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, MYLK2, ACTC1, NEBL, PDLIM3, BMPR2, KCNA5, CAV1, ACVRL1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, KCNJ8, TRPM4, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, LAMP2, CACNA1C, MED12, KCNQ1, KCNE1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, ENG, MAP2K2, RIT1, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, COL5A2, COL5A1, SLC22A5, CBS, TAZ, FBN1, RAF1, CRYAB, DSP, COL3A1, GAA, TTR
Specificity
1 %
Genes
13 %
|
Arrhythmias: Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
DSC2, RANGRF, JUP, DSG2, NKX2-5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, CACNA1C , (...)
View the complete list with 9 more genes
DSC2, RANGRF, JUP, DSG2, NKX2-5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, TMEM43, DSP
Specificity
4 %
Genes
13 %
|
Brugada Syndrome: Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
GPD1L, CACNB2, KCNE3, SCN3B, CACNA1C, SCN5A, HCN4, SCN1B
Specificity
13 %
Genes
13 %
|
Comprehensive Cardiovascular: Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN , (...)
View the complete list with 86 more genes
TMPO, FHL2, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, ACTC1, NEBL, PDLIM3, BMPR2, CAV1, ACVRL1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, KCNJ8, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, TGFB2, LAMP2, CACNA1C, MED12, KCNQ1, KCNE1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, ENG, MAP2K2, RIT1, SOS1, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, COL5A2, COL5A1, CBS, TAZ, FBN1, RAF1, CRYAB, DSP, COL3A1, GAA, TTR
Specificity
1 %
Genes
13 %
|
Familial Arrhythmia Full Gene Sequencing Panel.
By Integrated Genetics Westborough Integrated Genetics in United States.
ATP1B1, GINS3, LIG3, NPPA, NOS1AP, DSC2, JUP, DSG2, PLN, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2 , (...)
View the complete list with 10 more genes
ATP1B1, GINS3, LIG3, NPPA, NOS1AP, DSC2, JUP, DSG2, PLN, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, CACNA1C, KCNQ1, KCNE1, SCN5A, SCN1B, KCNH2, KCNJ2, TMEM43, CAV3, DSP
Specificity
4 %
Genes
13 %
|
Arrhythmia NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
GYG1, GJA5, NPPA, DSC2, JUP, DSG2, PRKAG2, TGFB3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3 , (...)
View the complete list with 18 more genes
GYG1, GJA5, NPPA, DSC2, JUP, DSG2, PRKAG2, TGFB3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, CACNA1C, KCNQ1, KCNE1, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, TMEM43, DES, CAV3, LMNA, SLC25A20, CPT1A, DSP
Specificity
3 %
Genes
13 %
|
Pan-Cardio NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
MYOM1, CALR3, CAVIN4, GJA5, NPPA, GATA4, TMPO, TXNRD2, CTF1, TBX5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2 , (...)
View the complete list with 81 more genes
MYOM1, CALR3, CAVIN4, GJA5, NPPA, GATA4, TMPO, TXNRD2, CTF1, TBX5, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, KCNJ8, LAMP2, CACNA1C, KCNQ1, KCNE1, TBX1, CACNA2D1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, SGCD, TCAP, EMD, TMEM43, SYNE1, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, PSEN2, LMNA, FKTN, PTPN11, GLA, DMD, DOLK, SDHA, FXN, COX15, TAZ, NDUFAF1, MRPL3, RAF1, CRYAB, DSP, JAG1, EYA4, GAA, TTR
Specificity
1 %
Genes
13 %
|
Atrial Fibrillation NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
GJA5, NPPA, NUP155, GATA6, GATA4, KCNA5, SCN4B, KCNJ5, KCNE2, RYR2, SCN3B, SCN2B, ABCC9, KCNJ8, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2 , (...)
View the complete list with 3 more genes
GJA5, NPPA, NUP155, GATA6, GATA4, KCNA5, SCN4B, KCNJ5, KCNE2, RYR2, SCN3B, SCN2B, ABCC9, KCNJ8, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, LMNA
Specificity
5 %
Genes
13 %
|
Sudden Death Syndrome NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
LRP6, CALR3, GJA5, NPPA, TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, RBM20, MYOZ2, JPH2, TNNT2, TPM1, JUP, DSG2, NEXN , (...)
View the complete list with 48 more genes
LRP6, CALR3, GJA5, NPPA, TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, RBM20, MYOZ2, JPH2, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, TGFB3, MYLK2, KCNA5, SCN4B, AKAP9, CASQ2, SNTA1, KCNE2, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, FBN2, TGFBR2, LAMP2, CACNA1C, KCNQ1, KCNE1, SCN5A, SCN1B, KCNH2, KCNJ2, SGCD, TCAP, TMEM43, MYBPC3, LDB3, MYH7, DES, TTN, CAV3, PSEN2, LMNA, FKTN, TAZ, FBN1, SLC25A4, DSP, EYA4, PSEN1
Specificity
2 %
Genes
13 %
|
Brugada Syndrome NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
GPD1L, CACNB2, KCNE3, SCN3B, CACNA1C, SCN5A, HCN4, SCN1B
Specificity
13 %
Genes
13 %
|
SCN1B.
By Fulgent Genetics Fulgent Genetics in United States.
SCN1B
Specificity
100 %
Genes
13 %
|
Brugada Syndrome Panel.
By Blueprint Genetics in Finland.
CACNB2, SCN3B, TRPM4, CACNA1C, SCN5A, HCN4, SCN1B, KCNH2, CAV3
Specificity
12 %
Genes
13 %
|
Atrial Fibrillation Panel.
By Blueprint Genetics in Finland.
SCN10A, NUP155, GATA6, TBX5, KCNA5, KCNJ5, KCNE2, RYR2, CACNB2, SCN3B, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, LDB3, LMNA
Specificity
6 %
Genes
13 %
|
Arrhythmia Panel.
By Blueprint Genetics in Finland.
PPA2, CDH2, TECRL, MYL4, TNNI3K, CALM3, CTNNA3, SCN10A, NUP155, GATA6, DBH, TBX5, SALL4, NOS1AP, DSC2, TNNT2, JUP, DSG2, PLN, MYH6 , (...)
View the complete list with 35 more genes
PPA2, CDH2, TECRL, MYL4, TNNI3K, CALM3, CTNNA3, SCN10A, NUP155, GATA6, DBH, TBX5, SALL4, NOS1AP, DSC2, TNNT2, JUP, DSG2, PLN, MYH6, TNNI3, NKX2-5, TGFB3, KCNA5, AKAP9, CASQ2, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, CACNB2, SCN3B, ABCC9, TRPM4, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCNJ2, TMEM43, BAG3, LDB3, DES, TTN, CAV3, LMNA, HADHA, DSP
Specificity
2 %
Genes
13 %
|
Comprehensive Cardiology Panel.
By Blueprint Genetics in Finland.
PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, TECRL, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALM3, CALR3, ALPK3, TBX20, GATA5, RBCK1 , (...)
View the complete list with 165 more genes
PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, TECRL, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALM3, CALR3, ALPK3, TBX20, GATA5, RBCK1, CTNNA3, SCN10A, ENPP1, NUP155, EPG5, XK, GATA6, APOA1, DBH, PPP1CB, TBX5, SALL4, NOS1AP, VCL, GMPPB, SPEG, TOR1AIP1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, NKX2-5, PRDM16, TGFB3, ACTC1, KCNA5, AKAP9, CASQ2, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, CACNB2, SCN3B, ABCC9, TRPM4, ABCC6, ACTA2, RRAS, RASA2, SPRED1, LAMP2, LZTR1, CACNA1C, KCNQ1, KCNE1, VPS13A, EEF1A2, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, LARGE1, LAMA2, KCNJ2, SMCHD1, ISPD, SGCD, TCAP, POMT1, PLEC, EMD, TMEM43, ACTA1, MYBPC3, SELENON, FHL1, BAG3, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, SCNN1B, SCNN1G, NF1, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, SGCB, SGCA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ALMS1, SLC25A20, SLC22A5, FXN, ETFDH, ETFA, ETFB, GBE1, MLYCD, GUSB, COX15, TAZ, SCO2, PCCA, PCCB, GFM1, DNAJC19, TSFM, PNPLA2, TMEM70, AGK, MTO1, VCP, RAF1, HADHA, CRYAB, NDUFAF2, FOXRED1, SLC25A4, DSP, TRIM32, GLB1, CPT2, ELAC2, GAA, ACADVL, AGL, ACAD9, AARS2, TTR, HFE
Specificity
1 %
Genes
13 %
|
Brugada syndrome type V.
By Bioarray in Spain.
SCN1B
Specificity
100 %
Genes
13 %
|
Generalized Epilepsy with Febrile Seizures Plus (GEFS+) type I.
By Bioarray in Spain.
SCN1B
Specificity
100 %
Genes
13 %
|
CardioGene Set.
By Genomics and Pathology Services Washington University in St. Louis in United States.
TMPO, FHL2, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2 , (...)
View the complete list with 60 more genes
TMPO, FHL2, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, GATAD1, TNNT2, TPM1, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, MYLK2, ACTC1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, ABCC9, KCNJ8, LAMP2, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, FHL1, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, MAP2K2, RIT1, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, BRAF, TAZ, RAF1, DSP, TTR
Specificity
2 %
Genes
13 %
|
Arrhythmia Gene Set.
By Genomics and Pathology Services Washington University in St. Louis in United States.
SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4 , (...)
View the complete list with 5 more genes
SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, CAV3
Specificity
4 %
Genes
13 %
|
Brugada Syndrome Gene Set.
By Genomics and Pathology Services Washington University in St. Louis in United States.
PKP2, GPD1L, CACNB2, KCNE3, SCN3B, KCNJ8, CACNA1C, SCN5A, HCN4, SCN1B, KCND3
Specificity
10 %
Genes
13 %
|
Brugada Syndrome Panel.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.
GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, KCNJ8, TRPM4, CACNA1C, CACNA2D1, SCN5A, HCN4, SCN1B, KCND3
Specificity
8 %
Genes
13 %
|
SCN1B Gene Sequencing and Deletion/Duplication Analysis.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.
SCN1B
Specificity
100 %
Genes
13 %
|
Cardiac Arrhythmia Exome Panel.
By Northwest Clinical Genomics Laboratory University of Washington in United States.
GNAI2, GJA5, NPPA, DPP6, DSC2, RBM20, TNNT2, DSG2, PLN, PRKAG2, MYH6, NKX2-5, KCNA5, SCN4B, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2 , (...)
View the complete list with 31 more genes
GNAI2, GJA5, NPPA, DPP6, DSC2, RBM20, TNNT2, DSG2, PLN, PRKAG2, MYH6, NKX2-5, KCNA5, SCN4B, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, TRPM4, CACNA1C, KCNQ1, KCNE1, CACNA1D, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, EMD, TMEM43, LDB3, DES, TTN, CAV3, LMNA, GLA, DSP
Specificity
2 %
Genes
13 %
|
SCN1B Gene, entire coding region or targeted variant.
By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada.
SCN1B
Specificity
100 %
Genes
13 %
|
BRUGADA SYNDROME.
By Laboratorio de Genetica Clinica SL in Spain.
GPD1L, CACNB2, KCNE3, SCN3B, TRPM4, CACNA1C, SCN5A, HCN4, SCN1B
Specificity
12 %
Genes
13 %
|
BRUGADA SYNDROME/LONG-QT/SHORT-QT/VENTRICULAR TACHYCARDIA: NGS PANEL.
By Laboratorio de Genetica Clinica SL in Spain.
AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, TRPM4, CACNA1C, KCNQ1, KCNE1, SCN5A , (...)
View the complete list with 5 more genes
AKAP9, CASQ2, SNTA1, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, TRPM4, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2
Specificity
4 %
Genes
13 %
|
Generalized Epilepsy with Febrile Seizures Plus, Sequencing SCN1B Gene.
By Reference Laboratory Genetics in Spain.
SCN1B
Specificity
100 %
Genes
13 %
|
Brugada Syndrome, Panel Massive Sequencing (NGS) 8 Genes.
By Reference Laboratory Genetics in Spain.
GPD1L, CACNB2, KCNE3, SCN3B, CACNA1C, SCN5A, HCN4, SCN1B
Specificity
13 %
Genes
13 %
|
Familial Atrial Fibrillation , Panel Massive Sequencing (NGS) 13 Genes.
By Reference Laboratory Genetics in Spain.
GJA5, NPPA, NUP155, KCNA5, SCN4B, KCNE2, SCN3B, SCN2B, ABCC9, KCNQ1, SCN5A, SCN1B, KCNJ2
Specificity
8 %
Genes
13 %
|
Ventricular Arrhythmia and Sudden Cardiac Death , Panel Massive Sequencing (NGS) 48 Genes.
By Reference Laboratory Genetics in Spain.
CTNNA3, SCN10A, DSC2, TNNT2, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2 , (...)
View the complete list with 28 more genes
CTNNA3, SCN10A, DSC2, TNNT2, JUP, DSG2, PLN, PRKAG2, TNNI3, TNNC1, TGFB3, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, TRPM4, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA1D, SCN5A, HCN4, SCN1B, KCNH2, KCND3, KCNJ2, TMEM43, FLNC, DES, TTN, CAV3, LMNA, DSP, ACADM
Specificity
3 %
Genes
13 %
|
Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes.
By Reference Laboratory Genetics in Spain.
ECE1, CTNNA3, CACNA1G, GJA5, NPPA, NUP155, SLC6A4, GJA1, DPP6, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1 , (...)
View the complete list with 75 more genes
ECE1, CTNNA3, CACNA1G, GJA5, NPPA, NUP155, SLC6A4, GJA1, DPP6, VCL, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, LAMA4, TGFB3, MYLK2, ACTC1, KCNA5, TP63, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, TRPM4, NOTCH1, LAMP2, CACNA1C, KCNQ1, KCNE1, SCN5A, HCN4, HCN1, SCN1B, KCNH2, CACNA1H, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, MYBPC3, BAG3, LDB3, MYH7, DES, TTN, CAV3, LMNA, FKTN, PHOX2B, PTPN11, DMPK, DMD, TAZ, PHOX2A, DNAJC19, TSFM, SLC25A3, DNM1L, CRYAB, DSP, PITX2, EYA4, RET, TTR
Specificity
2 %
Genes
13 %
|
Cardiac Conduction System Related Disorders , Panel Massive Sequencing (NGS) 20 Genes.
By Reference Laboratory Genetics in Spain.
TNNI3K, SCN10A, GJA5, TBX5, PRKAG2, NKX2-5, ACTC1, TRPM4, LAMP2, CACNA1D, SCN5A, HCN4, SCN1B, KCNJ2, EMD, DES, LMNA, GLA, GAA, TTR
Specificity
5 %
Genes
13 %
|
MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories in United States.
GSN, NEFH, SOD1, TEAD1, PHB, PLA2G2A, AKAP10, PNKD, PAX2, CPOX, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, NYX, FRMD7, OTC, RP2 , (...)
View the complete list with 617 more genes
GSN, NEFH, SOD1, TEAD1, PHB, PLA2G2A, AKAP10, PNKD, PAX2, CPOX, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, NYX, FRMD7, OTC, RP2, PRPF8, AGPS, PRPF31, PUS1, D2HGDH, CA4, PITPNM3, ALG3, STRA6, MYO7A, RNASEL, PPARGC1B, UCP3, UCP1, GJA3, PHOX2A, SQSTM1, GUCA1A, ETHE1, MPI, EYS, TYMP, ALG6, GAD1, SLC35A1, RIMS1, SCO2, LCA5, TAP1, CISD2, C1QTNF5, DMGDH, AMT, GLDC, GCSH, PINK1, HMGCS2, PCCA, PCCB, PARK7, GLUD1, B4GALT1, ALG12, SPG7, COQ2, UCP2, NDUFA13, GRN, ALG2, FSCN2, ALG8, UNG, AP3B1, MEF2A, CERKL, RGS9, ALG1, ATIC, ALG9, COG7, PDP1, DPM1, HADHB, FLVCR1, GFM1, MPDU1, PLOD2, IQCB1, SLC25A22, TK2, SECISBP2, TOPORS, ACADSB, CTSD, POLG2, DNAJC19, REEP1, ALDH2, SEMA4A, HTRA2, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, MRPS16, TSFM, PRCD, RD3, TUFM, CRTAP, PNPLA2, HAX1, SLC25A3, P3H1, TUSC3, DARS2, COG8, COG1, ACAD8, RARS2, GYS1, TUBA1A, MRPS22, CYCS, RFT1, COQ8A, SUCLA2, STXBP1, SLC9A3R1, SLC39A13, SDHB, PLOD3, RPL35A, AK1, SOD2, RDH12, COX4I2, SPR, GATM, GAMT, ADAM9, ENO3, LDHA, PGM1, DPM3, KLHL7, SLC25A12, TMEM126A, TLR3, PHKG2, GFER, PDE6C, ABAT, TRPM1, TSPAN12, CAVIN1, LRAT, GRK1, PCARE, GCKR, GPI, IMPG2, CNGA1, CYP24A1, G6PC, PYGL, NUBPL, NDUFA10, TAT, FAM161A, FYCO1, XPNPEP3, MTPAP, MSRB3, GNAT2, TTC19, HSD3B2, CCDC28B, HMGCL, NDUFAF1, PCK2, FAH, PHKA2, RS1, NFU1, CNGB1, RGR, CCDC39, PDE6A, GUCA1B, SLC24A1, SARS2, SP7, DHDDS, MERTK, SERPINF1, PRPF6, HAGH, TMEM70, ACAT2, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HP, CAT, ALDH6A1, PDHB, LDHB, DIABLO, GPX1, ACSF3, BOLA3, DGUOK, DNM1L, HPS1, GOT1, ALDH18A1, AGK, COX14, NDUFA9, GPD1, NDUFB3, LIAS, C8orf37, HARS, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, PPP2R1B, PRKN, PMM2, MGAT2, SLC25A20, SLC22A5, SIX6, CYP27A1, ASS1, CNGA3, SLC3A1, COX6B1, FASTKD2, LRPPRC, GLYCTK, FXN, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, CYBA, HK1, CBS, L2HGDH, NAGS, SLC25A15, TNFRSF11B, ALDH4A1, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, MAN2B1, MANBA, DBT, HIBCH, CYB5A, CYB5R3, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CHAT, CPT1A, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, CTSA, NME1, MPV17, GRM6, OAT, PPIB, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, AGXT, GIF, CUBN, PAH, QDPR, PTS, PGAM2, PHKB, ACOX1, CYP27B1, CTSK, ALDH7A1, NT5C3A, SLC35C1, PHYH, AK2, LPIN1, HEXB, SARDH, ALDH3A2, ALDH5A1, SUOX, GM2A, HEXA, TCN2, ABHD5, LMBRD1, MMADHC, XDH, ABCD1, BCOR, SLC9A6, AMER1, ACSL4, PHKA1, MAOA, AIFM1, DDOST, DHODH, IDH3B, NDUFA12, ACO2, MRPL3, COQ6, PDSS1, PDSS2, COQ9, CDH23, MTO1, WHRN, SLC26A4, FBN1, CYP11B2, MECP2, SMPD1, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, VCP, FH, OPA3, RAF1, HADHA, PANK2, SDHC, CRYAB, MFN2, SLC25A13, ALAS2, KIF1B, NDUFAF2, RRM2B, FOXRED1, CYP11B1, AFG3L2, GARS, GCK, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, DSP, PRPH2, ME2, SHH, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, NHS, HPRT1, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, PITX2, ELOVL4, FOXC1, OCRL, HSD17B10, GNE, SRD5A3, ATP6V0A2, PRODH, CC2D2A, GLB1, GNPTAB, PSAP, COMT, WFS1, DTNBP1, CLCN7, PYCR1, CASP8, TRMU, ABCB6, KRT5, OPA1, CPT2, CPS1, HSD17B4, AMACR, MTRR, SLC16A1, ABCA12, INPP5E, TNFRSF11A, GPR143, OPTN, RP1, EYA4, PDZD7, SLC37A4, ELN, TYR, MC1R, RET, MTR, HNF1B, LEMD3, SDHAF2, TUBB3, PITX3, TGFBI, RILP, PSEN1, RB1, CHM, TLR4, ELAC2, ZEB1, TGFB1, PAX6, WT1, SLC45A2, AMN, SOST, APP, SLC34A1, VSX1, OCA2, PRKCG, STAT1, STAR, KRT3, KRT12, GPD2, EFEMP1, SNCB, COL5A2, COL5A1, MEN1, WWOX, FZD4, KIF21A, RDH5, TIMP3, MYOC, OGG1, STAT3, RPS14, LMX1B, SEPT9, TMEM127, PPOX, ZFHX3, FECH, RP9, SLC22A4, HESX1, ANKRD26, NCOA4, CYP17A1, OGDH, ALMS1, CLN3, TPP1, GLRX5, SLC25A38, SOX2, ASL, APTX, BBS2, PDE6G, RP1L1, SPTLC2, KARS, IDH2, CDHR1, SCP2, CYP11A1, NRL, COL3A1, COL1A2, COL1A1, COL2A1, LRP5, PPARG, EYA1, FBLN5, TYRP1, RAX, MMACHC, SPATA7, NEUROD1, OPN1LW, HBB, HNF1A, OPN1MW, INVS, FOXL2, ADSL, GAA, C12orf65, TWNK, BEST1, BCS1L, BCKDHB, BCKDHA, B4GALT7, AUH, ATPAF2, ATP8B1, ATP7B, BTD, ATP7A, FKBP10, ATP5F1E, TYROBP, HLCS, UQCRB, ANKH, ARG1, UQCRQ, USH1C, GYS2, PC, FBP1, USH1G, ALDOB, ALDOA, YARS2, AIPL1, ZNF513, ACAT1, ACADVL, AGL, ACADS, ACADM, ACAD9, ACACA, ABHD12, ABCB4, ABCB11, AARS2, MCCC2, MCCC1, TP53, MUTYH, VHL, UBE3A, MTHFR, BRCA1
Specificity
1 %
Genes
13 %
|
STXBP1 Sequence Analysis.
By Baylor Miraca Genetics Laboratories in United States.
STXBP1
Specificity
100 %
Genes
13 %
|
STXBP1 Sequence Analysis (Familial Mutation/Variant Analysis).
By Baylor Miraca Genetics Laboratories in United States.
STXBP1
Specificity
100 %
Genes
13 %
|
STXBP1 Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories in United States.
STXBP1
Specificity
100 %
Genes
13 %
|
STXBP1 sequencing.
By Genetic Services Laboratory University of Chicago in United States.
STXBP1
Specificity
100 %
Genes
13 %
|
STXBP1 deletion/duplication analysis.
By Genetic Services Laboratory University of Chicago in United States.
STXBP1
Specificity
100 %
Genes
13 %
|
Autosomal Recessive Non-Specific Intellectual Disability Panel.
By Genetic Services Laboratory University of Chicago in United States.
CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, ZNF526, C12orf57, LINS1, LRP2, MED23, TECR, SLC25A1, VLDLR, AP4M1, AP4E1, AP4B1, AP4S1 , (...)
View the complete list with 16 more genes
CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, ZNF526, C12orf57, LINS1, LRP2, MED23, TECR, SLC25A1, VLDLR, AP4M1, AP4E1, AP4B1, AP4S1, ERLIN2, DDHD2, PCNT, NSUN2, VPS13B, CNTNAP2, KCNJ10, NRXN1, ST3GAL3, ARFGEF2, L2HGDH, D2HGDH, ALG6, TUSC3, STXBP1, IDH2
Specificity
3 %
Genes
13 %
|
Dystonia Exome Panel.
By Genetic Services Laboratory University of Chicago in United States.
NUP62, ACY1, SLC30A10, ADCY5, GNAL, BCAP31, ECHS1, LIPT1, KCTD17, HPCA, XPR1, ANO3, HIVEP2, GNB1, DNAJC6, SLC39A14, VAC14, UBA5, TBCD, MECR , (...)
View the complete list with 150 more genes
NUP62, ACY1, SLC30A10, ADCY5, GNAL, BCAP31, ECHS1, LIPT1, KCTD17, HPCA, XPR1, ANO3, HIVEP2, GNB1, DNAJC6, SLC39A14, VAC14, UBA5, TBCD, MECR, KMT2B, MDH2, CLPB, SERAC1, PDGFB, PDGFRB, COX20, HEPACAM, MICU1, DNAJC12, PRKRA, TPI1, XK, VPS35, SLC6A3, DDC, EARS2, FBXO7, SLC20A2, TPK1, CSF1R, COX10, DCAF17, COASY, CP, FTL, ADAR, TUBB4A, C19orf12, IFIH1, HACE1, TOR1AIP1, NKX2-1, AARS, SLC16A2, TAF1, FUCA1, VPS13A, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, PNKP, SCN8A, WDR45, GNAO1, ATP13A2, MFSD8, DNAJC5, CTSF, COL4A1, PRRT2, TBC1D24, SYNJ1, SLC19A3, ATP1A3, ATP1A2, ALS2, FA2H, BSCL2, SGCE, GCH1, THAP1, TOR1A, PLA2G6, CLN5, MLC1, TH, PPT1, CLN8, CLN6, ATM, SLC2A1, PLP1, NPC2, NPC1, FOXG1, ARX, ARSA, SDHA, PDHX, SLC6A8, TACO1, PNKD, CLN3, TPP1, APTX, PRKN, CYP27A1, LRPPRC, GCDH, CBS, L2HGDH, DLAT, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFV1, NDUFS1, SDHAF1, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, QDPR, PTS, SUOX, GM2A, HEXA, MMADHC, TIMM8A, PDHA1, SQSTM1, PINK1, PARK7, GRN, CTSD, HTRA2, COQ8A, SUCLA2, STXBP1, SPR, GAMT, SCP2, NDUFA10, TTC19, NDUFA9, NDUFA12, MECP2, PANK2, NDUFAF2, FOXRED1, AFG3L2, NDUFS4, POLG, HPRT1, GLB1, PSEN1, BCS1L, AUH, ATP7B, UQCRQ, AARS2
Specificity
1 %
Genes
13 %
|
STXBP1. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
STXBP1
Specificity
100 %
Genes
13 %
|
Epileptic Encephalopathy Early Infantile type 4 (sequence analysis of STXBP1 gene).
By CGC Genetics in Portugal.
STXBP1
Specificity
100 %
Genes
13 %
|
Early Infantile Epileptic encephalopathy-4/Ohtahara syndrome via the STXBP1 Gene.
By PreventionGenetics PreventionGenetics in United States.
STXBP1
Specificity
100 %
Genes
13 %
|
Epileptic Encephalopathy, Early Infantile, 4.
By MGZ Medical Genetics Center in Germany.
STXBP1
Specificity
100 %
Genes
13 %
|
STXBP1.
By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.
STXBP1
Specificity
100 %
Genes
13 %
|
Epileptic syndromes with epilepsy and intellectual disability panel.
By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.
AUTS2, CNKSR2, MED12, TREX1, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, KDM5C, PAK3, GRIA3, SYP, PHF6, FGD1, ATRX, SMS, OFD1, CNTNAP2 , (...)
View the complete list with 30 more genes
AUTS2, CNKSR2, MED12, TREX1, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, KDM5C, PAK3, GRIA3, SYP, PHF6, FGD1, ATRX, SMS, OFD1, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, DYRK1A, NRXN1, SRPX2, PQBP1, DCX, TBC1D24, MBD5, GRIN2A, GRIN2B, GPC3, SMC1A, SYNGAP1, PLP1, MEF2C, FOXG1, CDKL5, ARX, SLC6A8, SLC9A6, STXBP1, MECP2, HSD17B10, UBE3A
Specificity
2 %
Genes
13 %
|
Early infantile epileptic encephalopathy type 4.
By Centogene AG - the Rare Disease Company in Germany.
STXBP1
Specificity
100 %
Genes
13 %
|
Single gene testing STXBP1.
By CeGaT GmbH in Germany.
STXBP1
Specificity
100 %
Genes
13 %
|
Test for Epileptic Encephalopathy, Early Infantile, 4.
By All Wales Genetics Laboratory Institute of Medical Genetics in United Kingdom.
STXBP1
Specificity
100 %
Genes
13 %
|
Invitae Rett and Angelman Syndromes and Related Disorders Panel.
By Invitae in United States.
NGLY1, SATB2, EHMT1, ZEB2, IQSEC2, ATRX, CNTNAP2, TCF4, DYRK1A, NRXN1, SCN8A, KANSL1, MBD5, MEF2C, FOXG1, CDKL5, ALDH5A1, SLC9A6, STXBP1, MECP2 , (...)
View the complete list with 2 more genes
NGLY1, SATB2, EHMT1, ZEB2, IQSEC2, ATRX, CNTNAP2, TCF4, DYRK1A, NRXN1, SCN8A, KANSL1, MBD5, MEF2C, FOXG1, CDKL5, ALDH5A1, SLC9A6, STXBP1, MECP2, ADSL, UBE3A
Specificity
5 %
Genes
13 %
|
STXBP1.
By Fulgent Genetics Fulgent Genetics in United States.
STXBP1
Specificity
100 %
Genes
13 %
|
Early infantile epileptic encephalopathy.
By Bioarray in Spain.
STXBP1
Specificity
100 %
Genes
13 %
|
Early infantile epileptic encephalopathy IV.
By Bioarray in Spain.
STXBP1
Specificity
100 %
Genes
13 %
|
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY.
By Laboratorio de Genetica Clinica SL in Spain.
SPTAN1, KCNQ2, CDKL5, ARX, SLC25A22, STXBP1
Specificity
17 %
Genes
13 %
|
Early Infantile Epileptic Encephalopathy Type 4, Sequencing STXBP1 Gene.
By Reference Laboratory Genetics in Spain.
STXBP1
Specificity
100 %
Genes
13 %
|
Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes.
By Reference Laboratory Genetics in Spain.
ZBTB18, HERC2, PPP2R1A, MYT1L, TRIO, POGZ, GNB1, CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, CDH15, SOBP, LINS1, MED23, TECR , (...)
View the complete list with 71 more genes
ZBTB18, HERC2, PPP2R1A, MYT1L, TRIO, POGZ, GNB1, CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, CDH15, SOBP, LINS1, MED23, TECR, ANK3, CACNG2, EPB41L1, CRADD, FMN2, WASHC4, NDST1, TAF2, TTI2, ZMYND11, VLDLR, DPP6, AP4M1, AP4E1, AP4B1, AP4S1, ERLIN2, ARID1A, SMARCB1, SMARCA4, NSUN2, IL1RAPL1, ARHGEF6, BRWD3, SHROOM4, RPS6KA3, FTSJ1, GDI1, UPF3B, TSPAN7, DLG3, ZNF711, AFF2, HUWE1, NLGN4X, CTNNB1, ARID1B, AP1S2, EHMT1, KIRREL3, MED12, ADNP, SETBP1, CASK, OPHN1, KDM5C, PAK3, SYP, FGD1, ATRX, CNTNAP2, DYRK1A, GRIN1, NRXN1, KANSL1, ST3GAL3, TBL1XR1, PQBP1, DEAF1, MBD5, GRIN2B, DYNC1H1, KIF1A, SYNGAP1, MEF2C, ARX, SLC6A8, ACSL4, TUSC3, STXBP1, MECP2
Specificity
2 %
Genes
13 %
|
Autosomal Recessive Mental Retardation, Panel Massive Sequencing (NGS) 32 Genes.
By Reference Laboratory Genetics in Spain.
HERC2, CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, SOBP, LINS1, MED23, TECR, ANK3, CRADD, FMN2, WASHC4, NDST1, TAF2, TTI2 , (...)
View the complete list with 12 more genes
HERC2, CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, ZC3H14, SOBP, LINS1, MED23, TECR, ANK3, CRADD, FMN2, WASHC4, NDST1, TAF2, TTI2, VLDLR, AP4M1, AP4E1, AP4B1, AP4S1, ERLIN2, NSUN2, CNTNAP2, NRXN1, ST3GAL3, TUSC3, STXBP1
Specificity
4 %
Genes
13 %
|
STXBP1 related Encephalopathy with Epilepsy: gene deletion/duplication.
By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.
STXBP1
Specificity
100 %
Genes
13 %
|
STXBP1 Encephalopathy with Epilepsy: gene sequencing.
By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.
STXBP1
Specificity
100 %
Genes
13 %
|
Epileptic Encephalopathy, Early Infantile, 6; Eiee6