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Panel Name, Specifity and genes Tested/covered |
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies.
By Athena Diagnostics Inc (United States).
SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN9A, ST3GAL5, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SUCLA2, SYNJ1, SLC4A10, CACNA1A, CACNA1H, CACNB4, PCDH19, SLC25A19, CASR , (...)
View the complete list with 64 more genes
SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN9A, ST3GAL5, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SUCLA2, SYNJ1, SLC4A10, CACNA1A, CACNA1H, CACNB4, PCDH19, SLC25A19, CASR, ALG9, SLC19A3, EFHC1, LIAS, SCARB2, HCN4, BCKDK, PRICKLE1, CPA6, PRIMA1, DEPDC5, STX1B, KCNT1, ASPM, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, PRICKLE2, MBD5, L2HGDH, NHLRC1, BRAT1, KCTD7, ABAT, PIGO, CRH, CSTB, CYP27A1, ADSL, TBC1D24, DYNC1H1, PNPO, PRRT2, ALG13, EPM2A, FOLR1, GABRA1, GABRB2, GABRB3, GABRD, GABRG2, GAMT, GATM, GLDC, ALPL, GOSR2, GRIN2A, GRIN2B, AMT, HCN1, KCNC1, KCNH2, KCNMA1, KCNQ2, KCNQ3, LGI1, LMNB2, ASAH1, NDUFA1, ATP1A3, ALDH7A1, PHGDH
Specificity
2 %
Genes
100 %
|
Epilepsy Advanced Sequencing and CNV Evaluation.
By Athena Diagnostics Inc (United States).
SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)
View the complete list with 214 more genes
SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS, SNAP25, SIK1, SPTAN1, CDKL5, STXBP1, SUCLA2, SYN1, SYNGAP1, SYNJ1, SYP, TBX1, TCF4, TREX1, TSC1, TSC2, TUBA8, UBE3A, WWOX, SLC4A10, CNTNAP2, CACNA1A, CACNA1H, CACNA2D1, CACNA2D2, CACNB4, PCDH19, SLC25A19, ARHGEF9, DEAF1, ZEB2, CASK, CASR, SETBP1, ALG9, ARFGEF2, PANK2, PLCB1, SAMHD1, DNAJC5, SLC19A3, EFHC1, LIAS, RAB39B, SCARB2, HCN4, BCKDK, PRICKLE1, RAB3GAP1, CPA6, CENPJ, ADGRV1, NDE1, FKRP, ARX, SPATA5, PHF6, RBFOX1, ATP6AP2, PRIMA1, SETD2, DEPDC5, ATP6V0A2, RNASEH2A, STX1B, KCNT1, MAGI2, ASPM, VPS13A, POMGNT1, CHD2, DOCK7, CHRNA2, CHRNA4, CHRNA7, CHRNB2, POMT2, SLC25A22, PRICKLE2, MBD5, L2HGDH, TPP1, CLN3, CLN5, TUBA1A, CLN6, CLN8, ANKRD11, NHLRC1, BRAT1, VPS13B, KCTD7, COL4A1, ABAT, SLC13A5, PIGO, CPT2, KIF1BP, CRH, RNASEH2C, WDR62, KANSL1, SMC3, CSTB, CTSD, CTSF, CUL4B, OFD1, RNASEH2B, PIGV, CYP27A1, DCX, TSEN54, MFSD8, NIPBL, WDR45, SZT2, IQSEC2, ADSL, TBC1D24, NEXMIF, ROGDI, TBL1XR1, DYNC1H1, DNM1, DPYD, ATP13A2, PNPO, PRRT2, SRPX2, TUBB2B, ALG13, DYRK1A, EEF1A2, EMX2, EPM2A, FKTN, FGD1, FGFR3, FLNA, FOLR1, FOXG1, GABRA1, GABRB2, GABRB3, GABRD, GABRG2, GAMT, GATM, GFAP, GLDC, ALPL, GNAO1, GOSR2, GPC3, ADGRG1, GRIA3, GRIN1, GRIN2A, GRIN2B, GRN, AMT, HSD17B10, HCN1, HNRNPU, HPRT1, KCNA1, KCNA2, KCNB1, KCNC1, KCNH2, KCNJ10, KCNJ11, KCNMA1, KCNQ2, KCNQ3, LAMA2, LARGE1, LBR, LGI1, LMNB2, MCPH1, MECP2, MEF2C, KMT2D, ASAH1, NDUFA1, NOTCH3, NR2F1, ATP1A2, NRXN1, ATP1A3, ATP2A2, OPHN1, PAFAH1B1, PAK3, PAX6, ALDH7A1, ATRX, PEX7, PHGDH, SERPINI1, PIGA, PIGN, PLA2G6, PLP1, PNKP, POLG, POMT1, PPT1, PQBP1, PURA, QARS, RAI1, RELN
Specificity
1 %
Genes
100 %
|
NGS Epilepsy/Seizure Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SCN1A, SCN1B, SCN2A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1 , (...)
View the complete list with 124 more genes
SCN1A, SCN1B, SCN2A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, SYNJ1, TCF4, TGIF1, TSC1, TSC2, TUBB2A, UBE3A, ZIC2, CNTNAP2, CACNA1A, CACNA2D1, CACNB4, PCDH19, SLC25A19, ARHGEF9, ZEB2, CASK, CASR, TSEN34, VANGL1, ARFGEF2, PLCB1, PCNT, EFHC1, LIAS, SCARB2, PRICKLE1, CDON, CENPJ, NDE1, EXOSC3, ARX, PHF6, ATP6AP2, DEPDC5, CDK5RAP2, KCNT1, MAGI2, ASPM, NALCN, CHD2, DOCK7, CHRNA2, CHRNA4, CHRNB2, SLC25A22, FLVCR2, CLCN2, PRICKLE2, MBD5, TPP1, CLN3, CLN5, CLN6, CLN8, NHLRC1, KCTD7, ABAT, SLC13A5, WDR62, NECAP1, KANSL1, CSTB, CTSD, DCX, TSEN54, TSEN2, MFSD8, SZT2, IQSEC2, ADSL, TBC1D24, CEP152, PNPO, PRRT2, DYRK1A, EMX2, EPM2A, FLNA, FOLR1, FOXG1, FOXH1, MTOR, ABCB1, GABRA1, GABRB3, GABRD, GABRG2, GAMT, GATM, GLI2, GOSR2, ADGRG1, GRIN1, GRIN2A, GRIN2B, HNRNPU, KCNA1, KCNAB1, KCNJ10, KCNJ11, KCNQ2, KCNQ3, LGI1, MCPH1, MECP2, MEF2C, MTHFR, NDUFA1, NEDD4L, NODAL, ATP1A2, NRXN1, OPHN1, PAFAH1B1, ALDH7A1, ATR, PIGA, PNKP, POLG, PPT1, PTCH1, QARS, RELN
Specificity
1 %
Genes
100 %
|
Dystonia Exome Panel.
By Genetic Services Laboratory University of Chicago (United States).
BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...)
View the complete list with 150 more genes
BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH, TIMM8A, NKX2-1, TPI1, TREX1, XK, XPR1, VPS35, FBXO7, ANO3, HTRA2, NPC2, PINK1, MICU1, DNAJC6, CBS, LRPPRC, BSCL2, KMT2B, PANK2, NDUFAF5, SAMHD1, APTX, DNAJC5, SLC19A3, PARK7, BCAP31, MCEE, COQ8A, MLC1, TPK1, ACY1, ARX, RNASEH2A, MMAA, IFIH1, VPS13A, MMAB, MECR, AARS, L2HGDH, TPP1, CLN3, CLN5, CLN6, TUBB4A, CLN8, THAP1, SLC39A14, AARS2, HACE1, SERAC1, FA2H, PDHX, COL4A1, ADAR, COX10, COX15, CP, UBA5, ADCY5, NDUFA12, RNASEH2C, TACO1, CSF1R, MMADHC, CTSD, CTSF, SLC30A10, C19orf12, VAC14, RNASEH2B, KCTD17, DCAF17, TTC19, CYP27A1, HEPACAM, FOXRED1, COX20, DDC, NDUFAF2, MFSD8, NDUFAF6, DNAJC12, WDR45, DLAT, TBC1D24, EARS2, TOR1AIP1, LIPT1, UQCRQ, COASY, ATP13A2, PRRT2, CLPB, TOR1A, AFG3L2, ECHS1, SDHAF1, FOXG1, FTL, FUCA1, GAMT, GCDH, GCH1, GLB1, GM2A, GNAL, GNAO1, GNB1, ALS2, GRN, HEXA, HIVEP2, HPCA, HPRT1, MDH2, MECP2, ARSA, MMUT, NDUFA10, NDUFA2, NDUFA9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NPC1, ATM, ATP1A2, ATP1A3, NUP62, PRKN, ATP7B, PDGFB, PDGFRB, PDHA1, AUH, PLA2G6, PLP1, PNKD, PNKP, POLG, PPT1, PRKRA, PSEN1, PTS, QDPR
Specificity
1 %
Genes
100 %
|
SYNJ1.
By Institute for Human Genetics University Clinic Freiburg (Germany).
SYNJ1
Specificity
100 %
Genes
100 %
|
Parkinson disease 20 (PARK20, sequence analysis of SYNJ1 gene).
By CGC Genetics (Portugal).
SYNJ1
Specificity
100 %
Genes
100 %
|
Parkinson disease (NGS panel for 33 genes).
By CGC Genetics (Portugal).
SLC6A3, SNCA, SNCAIP, SNCB, SYNJ1, TAF1, TH, GIGYF2, UCHL1, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, PARK7, ATP6AP2, LRRK2, CSF1R, ADH1C, DCTN1 , (...)
View the complete list with 12 more genes
SLC6A3, SNCA, SNCAIP, SNCB, SYNJ1, TAF1, TH, GIGYF2, UCHL1, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, PARK7, ATP6AP2, LRRK2, CSF1R, ADH1C, DCTN1, ATP13A2, EIF4G1, FTL, GBA, GCH1, MAPT, ATP1A3, PRKN, PDXK, PLA2G6, POLG, PRKRA
Specificity
4 %
Genes
100 %
|
Parkinson Disease Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
SLC6A3, SNCA, SPR, SYNJ1, TAF1, GIGYF2, UCHL1, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, PARK7, RAB39B, LRRK2, CHCHD2, VPS13C, ATP13A2, EIF4G1, GBA , (...)
View the complete list with 4 more genes
SLC6A3, SNCA, SPR, SYNJ1, TAF1, GIGYF2, UCHL1, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, PARK7, RAB39B, LRRK2, CHCHD2, VPS13C, ATP13A2, EIF4G1, GBA, GCH1, MAPT, PRKN, PLA2G6
Specificity
5 %
Genes
100 %
|
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