Neurology

Being diagnosed with a hereditary condition can be scary. That’s why early detection is so important and can make all the difference in the world when it comes to getting in front of a disease.

Know The Basics

A child with a potential inherited neurological condition can create an endless diagnostic odyssey. In times like this, you want to avoid protracted diagnosis and potentially invasive testing. The sooner we can uncover the source of the condition the sooner we can work towards a treatment. In times like this, we understand that a parents’ world comes to a standstill. Finding answers becomes critical. We are here to help.

Tests and Gene Information

Click on the disease or category below to see all genes that appear on the test.

  • Epilepsy
    • EpiRapid

      Gene List

      ALDH7A1, FOLR1, KCNQ2, KCNQ3, KCNT1, MECP2, PCDH19, PNPO, POLG, PRRT2, SCN1A, SCN8A, SLC2A1, STXBP1, TSC1, TSC2

    • EpiFirst-Neonate

      Gene List

      ALDH7A1, KCNQ2, KCNQ3, KCNT1, SCN1A, SCN1B, SCN2A, SCN8A, SIK1, STXBP1

    • EpiFirst-Fever

      Gene List

      CHD2, GABRA1, GABRB3, GABRG2, HCN1, PCDH19, PRRT2, SCN1A, SCN1B, SCN2A, SCN8A, STX1B, STXBP1

    • EpiFirst-IS

      Gene List

      ARX, CDKL5, DNM1, EEF1A2, FOXG1, GRIN1, GRIN2A, KCNQ2, KCNT1, SCN2A, SCN8A, SIK1, SLC25A22, SPTAN1, STXBP1, TSC1, TSC2

    • EpiFirst-Focal

      Gene List

      CHRNA2, CHRNA4, CHRNB2, CRH, DEPDC5, GRIN2A, KCNT1, LGI1, PRRT2, SCN1A, SCN1B

    • PMEFirst

      Gene List

      CSTB, EPM2A, NHLRC1

    • EpilepsyNext

      Gene List

      ALDH7A1, ARHGEF9, ARX, ATP13A2, ATP1A2, CACNA1A, CASK, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CRH, CSTB, CTSD, CTSF, DCX, DEPDC5, DNAJC5, DNM1, DYNC1H1, DYRK1A, EEF1A2, EPM2A, FLNA, FOLR1, FOXG1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HNRNPU, IQSEC2, KCNA2, KCNC1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, KIAA2022, LGI1, MECP2, MEF2C, MFSD8, NHLRC1, NRXN1, PCDH19, PIGA, PLCB1, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRRT2, PURA, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SIK1, SLC13A5, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMC1A, SNAP25, SPTAN1, ST3GAL3, STX1B, STXBP1, SYN1, SYNGAP1, SZT2, TBC1D24, TBL1XR1, TCF4, TPP1, TSC1, TSC2, UBE3A, WDR45, ZEB2

    • CustomNext-Epilepsy

      Gene List

      ALDH7A1, ARHGEF9, ARX, ATP13A2, ATP1A2, CACNA1A, CASK, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CRH, CSTB, CTSD, CTSF, DCX, DEPDC5, DNAJC5, DNM1, DYNC1H1, DYRK1A, EEF1A2, EPM2A, FLNA, FOLR1, FOXG1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HNRNPU, IQSEC2, KCNA2, KCNC1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, KIAA2022, LGI1, MECP2, MEF2C, MFSD8, NHLRC1, NRXN1, PCDH19, PIGA, PLCB1, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRRT2, PURA, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SIK1, SLC13A5, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMC1A, SNAP25, SPTAN1, ST3GAL3, STX1B, STXBP1, SYN1, SYNGAP1, SZT2, TBC1D24, TBL1XR1, TCF4, TPP1, TSC1, TSC2, UBE3A, WDR45, ZEB2

    • PMENext

      Gene List

      ATP13A2, CLN3, CLN5, CLN6, CLN8, CSTB, CTSD, CTSF, DNAJC5, EPM2A, FOLR1, GOSR2, GRN, KCNC1, KCTD7, MFSD8, NHLRC1, PPT1, PRICKLE1, SCARB2, TPP1

    • Neurodevelopment - Expanded

      Gene List

      ABCD1, ACSL4, ADNP, ALDH7A1, ALG13, ANKRD11, AP1S2, AP4B1, ARHGEF9, ARID1B, ARX, ATP13A2, ATP1A2, ATP7A, ATRX, BRWD3, CA8, CACNA1A, CACNA1C, CASK, CC2D1A, CDKL5, CHD2, CHD7, CHD8, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CREBBP, CRH, CSTB, CTCF, CTSD, CTSF, CUL4B, DCX, DDX3X, DEPDC5, DHCR7, DLG3, DNAJC5, DNM1, DYNC1H1, DYRK1A, EEF1A2, EHMT1, EPM2A, FGD1, FLNA, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, FTSJ1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GDI1, GNAO1, GOSR2, GPC3, GRIA3, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HDAC8, HNRNPU, HOXA1, HPRT1, HUWE1, IDS, IQSEC2, KAT6A, KATNAL2, KCNA2, KCNC1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM5C, KIAA2022, KIF1A, L1CAM, LAMP2, LGI1, LINS, MAN1B1, MAOA, MBD5, MECP2, MED12, MED23, MEF2C, MFSD8, MID1, NDP, NDUFA1, NHLRC1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NSUN2, OCRL, OFD1, OPHN1, OTC, PACS1, PAK3, PCDH19, PDHA1, PHF6, PHF8, PIGA, PIGN, PLCB1, PLP1, PNKP, PNPO, POGZ, POLG, PORCN, PPT1, PQBP1, PRICKLE1, PRRT2, PTCHD1, PTEN, PTPN11, PURA, RAB39B, RAD21, RAI1, RPL10, RPS6KA3, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SHANK3, SIK1, SLC13A5, SLC16A2, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SMS, SNAP25, SPTAN1, ST3GAL3, STX1B, STXBP1, SYN1, SYNGAP1, SZT2, TBC1D24, TBL1XR1, TBR1, TCF4, TIMM8A, TPP1, TRAPPC9, TSC1, TSC2, TUSC3, UBE2A, UBE3A, UPF3B, VPS13B, WDR45, ZC4H2, ZEB2

    • ExomeNext

      Gene List

      Whole Exome

    • SNP Array

      Gene List

      Whole Genome

  • Neurodevelopment
    • Fragile X-associated Disorders

      Gene List

      FMR1

    • AutismFirst

      Gene List

      CHD7, DHCR7, FMR1, HDAC8, MECP2, MED12, NIPBL, NSD1, PTEN, RAD21, RAI1, SMC1A, SMC3, TSC1, TSC2, UBE3A

    • Rett / AngelmanNext

      Gene List

      ARX, ATRX, CDKL5, CNTNAP2, DYRK1A, EHMT1, FOXG1, IQSEC2, MBD5, MECP2, MEF2C, NRXN1, PCDH19, PNKP, SATB2, SHANK3, SLC2A1, SLC9A6, STXBP1, TCF4, UBE3A, ZEB2

    • AutismNext

      Gene List

      ADNP, ANKRD11, ARID1B, CACNA1C, CDKL5, CHD2, CHD7, CHD8, CNTNAP2, CREBBP, DHCR7, DYRK1A, FMR1, FOXG1, FOXP1, GRIA3, GRIN2B, HDAC8, KATNAL2, MECP2, MED12, MEF2C, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, PCDH19, POGZ, PTCHD1, PTEN, RAB39B, RAD21, RAI1, SCN2A, SHANK3, SLC6A8, SLC9A6, SMC1A, SMC3, SYNGAP1, TBR1, TCF4, TSC1, TSC2, UBE3A, UPF3B, ZEB2

    • IDNext

      Gene List

      ABCD1, ACSL4, ADNP, ALG13, ANKRD11, AP1S2, AP4B1, ARHGEF9, ARID1B, ARX, ATP7A, ATRX, BRWD3, CA8, CACNA1A, CASK, CC2D1A, CDKL5, CHD2, CHD7, CHD8, CNTNAP2, CREBBP, CTCF, CUL4B, DCX, DDX3X, DHCR7, DLG3, DNM1, DYNC1H1, DYRK1A, EHMT1, FGD1, FLNA, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, FTSJ1, GAMT, GATM, GDI1, GNAO1, GPC3, GRIA3, GRIN1, GRIN2A, GRIN2B, HCN1, HDAC8, HNRNPU, HOXA1, HPRT1, HUWE1, IDS, IQSEC2, KAT6A, KCNJ10, KDM5C, KIAA2022, KIF1A, L1CAM, LAMP2, LINS, MAN1B1, MAOA, MBD5, MECP2, MED12, MED23, MEF2C, MID1, NDP, NDUFA1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NSUN2, OCRL, OFD1, OPHN1, OTC, PACS1, PAK3, PCDH19, PDHA1, PHF6, PHF8, PIGA, PIGN, PLP1, PNKP, POGZ, PORCN, PPT1, PQBP1, PTCHD1, PTEN, PTPN11, PURA, RAB39B, RAD21, RAI1, RPL10, RPS6KA3, SATB2, SCN2A, SCN8A, SLC16A2, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SMS, ST3GAL3, STXBP1, SYN1, SYNGAP1, TBR1, TCF4, TIMM8A, TRAPPC9, TUSC3, UBE2A, UBE3A, UPF3B, VPS13B, WDR45, ZC4H2, ZEB2

    • Neurodevelopment- Expanded

      Gene List

      ABCD1, ACSL4, ADNP, ALDH7A1, ALG13, ANKRD11, AP1S2, AP4B1, ARHGEF9, ARID1B, ARX, ATP13A2, ATP1A2, ATP7A, ATRX, BRWD3, CA8, CACNA1A, CACNA1C, CASK, CC2D1A, CDKL5, CHD2, CHD7, CHD8, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CREBBP, CRH, CSTB, CTCF, CTSD, CTSF, CUL4B, DCX, DDX3X, DEPDC5, DHCR7, DLG3, DNAJC5, DNM1, DYNC1H1, DYRK1A, EEF1A2, EHMT1, EPM2A, FGD1, FLNA, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, FTSJ1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GDI1, GNAO1, GOSR2, GPC3, GRIA3, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HDAC8, HNRNPU, HOXA1, HPRT1, HUWE1, IDS, IQSEC2, KAT6A, KATNAL2, KCNA2, KCNC1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM5C, KIAA2022, KIF1A, L1CAM, LAMP2, LGI1, LINS, MAN1B1, MAOA, MBD5, MECP2, MED12, MED23, MEF2C, MFSD8, MID1, NDP, NDUFA1, NHLRC1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NSUN2, OCRL, OFD1, OPHN1, OTC, PACS1, PAK3, PCDH19, PDHA1, PHF6, PHF8, PIGA, PIGN, PLCB1, PLP1, PNKP, PNPO, POGZ, POLG, PORCN, PPT1, PQBP1, PRICKLE1, PRRT2, PTCHD1, PTEN, PTPN11, PURA, RAB39B, RAD21, RAI1, RPL10, RPS6KA3, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SHANK3, SIK1, SLC13A5, SLC16A2, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SMS, SNAP25, SPTAN1, ST3GAL3, STX1B, STXBP1, SYN1, SYNGAP1, SZT2, TBC1D24, TBL1XR1, TBR1, TCF4, TIMM8A, TPP1, TRAPPC9, TSC1, TSC2, TUSC3, UBE2A, UBE3A, UPF3B, VPS13B, WDR45, ZC4H2, ZEB2

    • ExomeNext

      Gene List

      Whole Exome

    • SNP Array

      Gene List

      Whole Genome

  • Neurocutaneous / NeuroOncology
    • Neurofibromatosis 1 (NF1)

      Gene List

      NF1

    • Neurofibromatosis 2 (NF2)

      Gene List

      NF2

    • Schwannomatosis

      Gene List

      SMARCB1