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Panel Name, Specifity and genes Tested/covered |
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 %
|
Epilepsy Advanced Sequencing and CNV Evaluation - Infantile Spasms.
By Athena Diagnostics Inc (United States).
SCN2A, ST3GAL3, SLC35A2, SPTAN1, CDKL5, STXBP1, CACNA2D1, ARX, SLC25A22, ADSL, TBL1XR1, FOXG1, GABRB3, GRIN2A, MEF2C, NR2F1
Specificity
7 %
Genes
100 %
|
Syndromic Autism Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SCN1A, SCN2A, BRAF, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C, NSD1 , (...)
View the complete list with 63 more genes
SCN1A, SCN2A, BRAF, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C, NSD1, PCDH19, NLGN4X, NLGN3, SHANK3, ZEB2, CASK, SETBP1, ADNP, RAB39B, UBE3C, BCKDK, SYNE1, ARID1B, ARX, PHF6, TMLHE, SETD2, CHD8, MBD5, CHD7, TUBA1A, VPS13B, KIRREL3, NTNG1, CREBBP, EHMT1, SMC3, CTNNB1, PTCHD1, DHCR7, NIPBL, TBL1XR1, DYRK1A, FGD1, TMEM231, FMR1, FOLR1, FOXG1, FOXP1, ALDH5A1, GABRB3, GRIN2B, AMT, HOXA1, HPRT1, AP1S2, L1CAM, LAMC3, MECP2, MEF2C, MID1, NHS, NRXN1, OPHN1, PAFAH1B1, ATRX, PNKP, PQBP1, PTEN, PTPN11, RAD21, RAI1, RELN
Specificity
2 %
Genes
100 %
|
CustomNext: Neuro.
By Ambry Genetics (United States).
RPL10, RPS6KA3, SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC16A2, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, KDM5C, SMS, SNAP25 , (...)
View the complete list with 176 more genes
RPL10, RPS6KA3, SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC16A2, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, KDM5C, SMS, SNAP25, SIK1, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, TBR1, TCF4, TIMM8A, MED12, TSC1, TSC2, UBE2A, UBE3A, KAT6A, FTSJ1, HDAC8, CTCF, CA8, CNTNAP2, FOXP2, CACNA1A, CACNA1C, NSD1, PCDH19, NLGN4X, NLGN3, SHANK3, ARHGEF9, ZEB2, CASK, ADNP, PLCB1, DNAJC5, RAB39B, SCARB2, PRICKLE1, BRWD3, PORCN, ARID1B, ARX, PHF6, DEPDC5, STX1B, POGZ, KCNT1, CHD2, CHRNA2, CHRNA4, CHRNB2, SLC25A22, CHD8, UPF3B, MBD5, CHD7, PHF8, TPP1, CLN3, CLN5, CLN6, CLN8, ANKRD11, NHLRC1, SATB2, VPS13B, KCTD7, SLC13A5, CREBBP, CRH, MED23, EHMT1, SMC3, CSTB, ZC4H2, CTSD, CTSF, KATNAL2, CUL4B, OFD1, NSUN2, PTCHD1, DCX, DDX3X, MFSD8, DHCR7, NIPBL, WDR45, DLG3, SZT2, IQSEC2, TBC1D24, NEXMIF, TBL1XR1, DYNC1H1, DNM1, PACS1, ATP13A2, CC2D1A, TUSC3, PNPO, PRRT2, TRAPPC9, ALG13, HUWE1, DYRK1A, LINS1, EEF1A2, EPM2A, ACSL4, FGD1, FLNA, FMR1, FOLR1, FOXG1, FOXP1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GDI1, GNAO1, GOSR2, GPC3, GRIA3, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HNRNPU, HOXA1, HPRT1, IDS, AP1S2, AP4B1, ABCD1, KCNA2, KCNC1, KCNJ10, KCNQ2, KCNQ3, L1CAM, LAMP2, LGI1, MAN1B1, MAOA, MECP2, MEF2C, MID1, NDP, NDUFA1, NHS, ATP1A2, NRXN1, OCRL, OPHN1, OTC, PAK3, ATP7A, ALDH7A1, PDHA1, ATRX, KIF1A, PIGA, PIGN, PLP1, PNKP, POLG, PPT1, PQBP1, PTEN, PTPN11, PURA, RAD21, RAI1
Specificity
1 %
Genes
100 %
|
Neurodevelopment-Expanded.
By Ambry Genetics (United States).
RPL10, RPS6KA3, SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC16A2, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, KDM5C, SMS, SNAP25 , (...)
View the complete list with 176 more genes
RPL10, RPS6KA3, SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC16A2, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, KDM5C, SMS, SNAP25, SIK1, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, TBR1, TCF4, TIMM8A, MED12, TSC1, TSC2, UBE2A, UBE3A, KAT6A, FTSJ1, HDAC8, CTCF, CA8, CNTNAP2, FOXP2, CACNA1A, CACNA1C, NSD1, PCDH19, NLGN4X, NLGN3, SHANK3, ARHGEF9, ZEB2, CASK, ADNP, PLCB1, DNAJC5, RAB39B, SCARB2, PRICKLE1, BRWD3, PORCN, ARID1B, ARX, PHF6, DEPDC5, STX1B, POGZ, KCNT1, CHD2, CHRNA2, CHRNA4, CHRNB2, SLC25A22, CHD8, UPF3B, MBD5, CHD7, PHF8, TPP1, CLN3, CLN5, CLN6, CLN8, ANKRD11, NHLRC1, SATB2, VPS13B, KCTD7, SLC13A5, CREBBP, CRH, MED23, EHMT1, SMC3, CSTB, ZC4H2, CTSD, CTSF, KATNAL2, CUL4B, OFD1, NSUN2, PTCHD1, DCX, DDX3X, MFSD8, DHCR7, NIPBL, WDR45, DLG3, SZT2, IQSEC2, TBC1D24, NEXMIF, TBL1XR1, DYNC1H1, DNM1, PACS1, ATP13A2, CC2D1A, TUSC3, PNPO, PRRT2, TRAPPC9, ALG13, HUWE1, DYRK1A, LINS1, EEF1A2, EPM2A, ACSL4, FGD1, FLNA, FMR1, FOLR1, FOXG1, FOXP1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GDI1, GNAO1, GOSR2, GPC3, GRIA3, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HNRNPU, HOXA1, HPRT1, IDS, AP1S2, AP4B1, ABCD1, KCNA2, KCNC1, KCNJ10, KCNQ2, KCNQ3, L1CAM, LAMP2, LGI1, MAN1B1, MAOA, MECP2, MEF2C, MID1, NDP, NDUFA1, NHS, ATP1A2, NRXN1, OCRL, OPHN1, OTC, PAK3, ATP7A, ALDH7A1, PDHA1, ATRX, KIF1A, PIGA, PIGN, PLP1, PNKP, POLG, PPT1, PQBP1, PTEN, PTPN11, PURA, RAD21, RAI1
Specificity
1 %
Genes
100 %
|
EpilepsyNext.
By Ambry Genetics (United States).
SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMC1A, SNAP25, SIK1, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, TCF4, TSC1, TSC2 , (...)
View the complete list with 80 more genes
SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMC1A, SNAP25, SIK1, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, TCF4, TSC1, TSC2, UBE3A, CNTNAP2, CACNA1A, PCDH19, ARHGEF9, ZEB2, CASK, PLCB1, DNAJC5, SCARB2, PRICKLE1, ARX, DEPDC5, STX1B, KCNT1, CHD2, CHRNA2, CHRNA4, CHRNB2, SLC25A22, TPP1, CLN3, CLN5, CLN6, CLN8, NHLRC1, KCTD7, SLC13A5, CRH, CSTB, CTSD, CTSF, DCX, MFSD8, WDR45, SZT2, IQSEC2, TBC1D24, NEXMIF, TBL1XR1, DYNC1H1, DNM1, ATP13A2, PNPO, PRRT2, DYRK1A, EEF1A2, EPM2A, FLNA, FOLR1, FOXG1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HNRNPU, KCNA2, KCNC1, KCNJ10, KCNQ2, KCNQ3, LGI1, MECP2, MEF2C, ATP1A2, NRXN1, ALDH7A1, PIGA, PNKP, POLG, PPT1, PURA
Specificity
1 %
Genes
100 %
|
EpiRapid reflex EpilepsyNext.
By Ambry Genetics (United States).
SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMC1A, SNAP25, SIK1, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, TCF4, TSC1, TSC2 , (...)
View the complete list with 80 more genes
SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMC1A, SNAP25, SIK1, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, TCF4, TSC1, TSC2, UBE3A, CNTNAP2, CACNA1A, PCDH19, ARHGEF9, ZEB2, CASK, PLCB1, DNAJC5, SCARB2, PRICKLE1, ARX, DEPDC5, STX1B, KCNT1, CHD2, CHRNA2, CHRNA4, CHRNB2, SLC25A22, TPP1, CLN3, CLN5, CLN6, CLN8, NHLRC1, KCTD7, SLC13A5, CRH, CSTB, CTSD, CTSF, DCX, MFSD8, WDR45, SZT2, IQSEC2, TBC1D24, NEXMIF, TBL1XR1, DYNC1H1, DNM1, ATP13A2, PNPO, PRRT2, DYRK1A, EEF1A2, EPM2A, FLNA, FOLR1, FOXG1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HNRNPU, KCNA2, KCNC1, KCNJ10, KCNQ2, KCNQ3, LGI1, MECP2, MEF2C, ATP1A2, NRXN1, ALDH7A1, PIGA, PNKP, POLG, PPT1, PURA
Specificity
1 %
Genes
100 %
|
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
RORB, RYR3, SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SGCE, ST3GAL3, ST3GAL5, SLC25A12, SLC2A1, SLC35A2, SLC35A3, SLC6A1, SLC6A8, SLC9A6, SMC1A , (...)
View the complete list with 202 more genes
RORB, RYR3, SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SGCE, ST3GAL3, ST3GAL5, SLC25A12, SLC2A1, SLC35A2, SLC35A3, SLC6A1, SLC6A8, SLC9A6, SMC1A, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, SYNJ1, TCF4, JMJD1C, TSC1, TSC2, UBE3A, WWOX, YWHAG, FRRS1L, SLC12A5, CNTNAP2, CACNA1A, CACNA1H, PRDM8, CACNA2D2, CACNB4, NPRL3, PIGQ, CAD, CERS1, PCDH19, ARHGEF9, ZEB2, CASK, CASR, CBL, GPHN, ARHGEF15, PLCB1, DNAJC5, SLC19A3, EFHC1, LIAS, SCARB2, BCKDK, PRICKLE1, CPA6, TPK1, NGLY1, ARID1B, ARX, SPATA5, RBFOX1, ATP6AP2, PRIMA1, SETD2, DEPDC5, ZDHHC9, STX1B, IER3IP1, KCNT1, CHD2, DOCK7, DENND5A, CHRNA2, CHRNA4, CHRNB2, COQ4, SLC25A22, SNX27, CLCN4, PRICKLE2, MBD5, DHDDS, TPP1, CLN3, CLN5, CLN6, CLN8, CLTC, NUS1, FARS2, ANKRD11, NHLRC1, SATB2, BRAT1, CNTN2, KPNA7, KCTD7, COL4A1, ABAT, SLC13A5, PIGO, UBA5, NECAP1, KANSL1, EHMT1, CSTB, NPRL2, CTSD, CARS2, GUF1, PIGG, RBFOX3, DDX3X, MFSD8, DIAPH1, WDR45, SZT2, IQSEC2, ADSL, TBC1D24, NEXMIF, ROGDI, C12orf57, TBL1XR1, ARV1, DNM1, DNMT3A, HECW2, PACS1, PIK3AP1, STRADA, PNPO, PIGP, PRRT2, SRPX2, ALG13, DYRK1A, EEF1A2, EPM2A, FASN, FGF12, FLNA, FOLR1, FOXG1, MTOR, GABRA1, ALDH5A1, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAL, GAMT, GATM, GCSH, GLDC, GLRA1, GNAO1, GOSR2, GABBR2, GRIN1, GRIN2A, GRIN2B, GRIN2D, AMT, HCN1, HCN2, HIVEP2, HNRNPU, AP3B2, ITPA, KCNA1, KCNA2, KCNB1, KCNC1, KCND2, KCNH1, KCNH2, KCNH5, KCNJ10, KCNMA1, KCNQ2, KCNQ3, LGI1, LMNB2, MDH2, MECP2, MEF2C, NAGA, NEDD4L, NF1, ATP1A2, NRXN1, ATP1A3, NTRK2, ALDH7A1, ATRX, SERPINI1, PIGA, PIGN, PNKD, PNKP, POLG, PPP2R1A, PPP3CA, PPT1, PLPBP, PTEN, PURA, QARS, RAB11A, RANBP2, RELN
Specificity
1 %
Genes
100 %
|
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