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 ATAXIA-TELANGIECTASIA 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 (EpilepsyNext) 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
Familial hemiplegic migraine Familial Hemiplegic Migraine ATP1A2, CACNA1A, PRRT2, SCN1A
Familial transthyretin amyloidosis Familial transthyretin amyloidosis TTR
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
Kleefstra syndrome, 9q Subtelomeric Deletion syndrome, 9q34.3 Microdeletion syndrome, 9qSTDS Kleefstra Syndrome EHMT1
Legius syndrome Legius syndrome SPRED1
Lesch-Nyhan syndrome, Hypoxanthine-guanine phosphoribosyltransferase deficiency, HGPRT Deficiency, HPRT Deficiency, Lesch-Nyhan disease Lesch-Nyhan syndrome HPRT1
Lowe syndrome, Oculocerebrorenal syndrome Lowe Syndrome OCRL
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, 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
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
Niemann-Pick disease type C, Juvenile Niemann-Pick disease Niemann-Pick Disease Type C
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
Oral-facial-digital syndrome type I, Orofaciodigital syndrome I, Papillon-Leage-Psaume syndrome Oral-Facial-Digital Syndrome Type I OFD1
Ornithine transcarbamylase (OTC) deficiency ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC
PLP1-Related Disorders, Pelizaeus-Merzbacher disease (PMD), Sudanophilic leukodystrophy, Spastic paralegia 2 (SPG2) PLP1-Related Disorders PLP1
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
Simpson-Golabi-Behmel syndrome type 1 (SGBS1), Simpson-Golabi-Behmel syndrome Simpson-Golabi-Behmel Syndrome GPC3
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