Tests by Specialty- Neurology

Ambry Genetics has cataloged all of our tests and organized them below by specialty. The comprehensive listing of tests by specialty is organized in alphabetical order.

Disease Test Genes
Ataxia-telangiectasia , Louis-Barr syndrome, ATM-breast cancer susceptibility ATM-Ataxia Telangiectasia (A-T) & Breast Cancer Susceptibility ATM
Autism, Autism Spectrum Disorder Autism Spectrum Disorders (AutismFirst/AutismNext) 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
Coffin-Lowry syndrome COFFIN-LOWRY SYNDROME RPS6KA3
Epilepsy Comprehensive Epilepsy Testing (EpiNext) ALDH7A1, ATP1A2, ATP13A2, CACNA1A, CHD2, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTSD, DEPDC5, DNAJC5, DNM1, DYNC1H1, EPM2A, FOLR1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, HCN1, HNRNPU, KCNC1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, LGI1, MFSD8, NHLRC1, NRXN1, PCDH19, PIGA, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRRT2, SCARB2, SCN1A, SCN2A, SCN8A, SLC13A5, SLC25A22, SLC2A1, SLC35A2, SNAP25, SPTAN1, ST3GAL3, STXBP1, SYNGAP1, SZT2, TBC1D24, TCF4, TPP1, ZEB2, PLCB1, CRH, STX1B, CTSF, IQSEC2, GRN, EEF1A2, KCNA2, SIK1, SLC6A1, TBL1XR1, DYRK1A, PURA, WDR45, CASK, CDKL5, CTSF, DCX, DYRK1A, EEF1A2, FLNA, FOXG1, GRN, IQSEC2, KCNA2, KIAA2022, MECP2, MEF2C, PLCB1, ARX, ARHGEF9
Cornelia de Lange syndrome, Brachmann-de Lange syndrome, de Lange syndrome Cornelia de lange syndrome NIPBL, SMC1A, HDAC8, RAD21, SMC3
Febrile seizures Febrile Seizures (EpiFirst-Fever) CHD2, GABRA1, GABRB3, GABRG2, HCN1, PCDH19, PRRT2, SCN1A, SCN1B, SCN2A, SCN8A, STX1B, STXBP1
Fragile X Syndrome, Fragile X-associated Tremor/Ataxia Syndrome, Fragile X-associated Primary Ovarian Insufficiency, X-Linked Intellectual Disability Fragile X-Associated Disorders FMR1
Infantile Spasms Infantile Spasms (EpiFirst-IS) ARX, CDKL5, DNM1, EEF1A2, FOXG1, GRIN1, GRIN2A, KCNQ2, KCNT1, SCN2A, SCN8A, SIK1, SLC25A22, SPTAN1, STXBP1, TSC1, TSC2
Intellectual disability, Developmental delay Intellectual Disability (IDNext) ABCD1, ACSL4, ADNP, ALG13, ANKRD11, AP4B1, AP1S2, 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, FOXP2, FOXP1, 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
Legius syndrome Legius syndrome SPRED1
Lesch-Nyhan syndrome, Hypoxanthine-guanine phosphoribosyltransferase deficiency, HGPRT Deficiency, HPRT Deficiency, Lesch-Nyhan disease Lesch-Nyhan syndrome HPRT1
Menkes syndrome , Menkes disease, Occipital horn syndrome, ATP7A-related distal motor neuropathy Menkes and related syndromes ATP7A
Autism Spectrum Disorder, Developmental Delay, Intellectual Disability, Multiple Congenital Anomalies Microarrays: 180K Oligo Array and SNP Array
Neonatal seizures Neonatal Seizures (EpiFirst-Neonate) ALDH7A1, KCNQ2, KCNQ3, KCNT1, SCN1A, SCN2A, SCN8A, SIK1, STXBP1, SCN1B
Intellectual disability, Autism, Autism spectrum disorder, Epilepsy, Developmental delay Neurodevelopment-Expanded 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, 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, PRSS12, 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
Neurofibromatosis 1 , von Recklinghausen disease Neurofibromatosis 1 (NF1) NF1
Neuronal Ceroid Lipofuscinosis, Batten Disease Neuronal Ceroid Lipofuscinosis (Batten Disease) ATP13A2, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, TPP1
Nevoid basal cell carcinoma syndrome (NBCCS), Gorlin syndrome, Basal Cell Nevus Syndrome (BCNS) NEVOID BASAL CELL CARCINOMA SYNDROME (GORLIN SYNDROME) PTCH1
Non-lesional focal epilepsy, Focal epilepsy Non-Lesional Focal Epilepsy (EpiFirst-Focal) CRH, CHRNA2, CHRNA4, CHRNB2, DEPDC5, GRIN2A, KCNT1, LGI1, PRRT2, SCN1A, SCN1B
Noonan Syndrome Noonan Syndrome KRAS, PTPN11, RAF1, SOS1
Noonan syndrome with multiple lentigines (NSML), LEOPARD syndrome, Multiple lentigines syndrome Noonan Syndrome with Multiple Lentigines PTPN11, RAF1
Ornithine transcarbamylase (OTC) deficiency ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC
Progressive myoclonus epilepsy Progressive Myoclonus Epilepsy (PMEFirst/PMENext) ATP13A2, CLN3, CLN5, CLN6, CLN8, CSTB, CTSD, CTSF, DNAJC5, EPM2A, FOLR1, GOSR2, GRN, KCNC1, KCTD7, MFSD8, NHLRC1, PPT1, PRICKLE1, SCARB2, TPP1
PTEN-Related Disorders , Cowden Syndrome, PTEN Hamartoma Tumor syndrome (PHTS), Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, Autism spectrum disorder with macrocephaly PTEN-Related Disorders PTEN
Rett syndrome, Atypical Rett syndrome, Angelman syndrome, Angelman-like syndrome, Christianson syndrome Rett And Angelman Syndromes ARX, ATRX, CDKL5, CNTNAP2, DYRK1A, EHMT1, FOXG1, IQSEC2, MBD5, MECP2, MEF2C, NRXN1, PCDH19, PNKP, SATB2, SHANK3, SLC2A1, SLC9A6, STXBP1, TCF4, UBE3A, ZEB2
Rubinstein-Taybi syndrome, Broad Thumbs-Hallux syndrome RUBINSTEIN-TAYBI SYNDROME CREBBP
Smith-Magenis syndrome, Chromosome 17p11.2 deletion syndrome Smith-Magenis syndrome RAI1
Sotos syndrome Sotos Syndrome NSD1
Tuberous sclerosis complex (TSC) Tuberous Sclerosis Complex TSC1, TSC2
von Hipple-Lindau (VHL) disease Von Hippel-Lindau Disease VHL
X-linked adrenoleukodystrophy, Adrenoleukodystrophy X-Linked Adrenoleukodystrophy ABCD1