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
Canavan Disease, Aminoacylase 2 deficiency, ASPA deficiency, Van Bogaert-Bertrand syndrome Canavan Disease Testing ASPA
Autism Spectrum Disorder, Developmental Delay, Intellectual Disability Fragile X DNA Analysis and Chromosome Microarray
Fragile X Syndrome, Fragile X-associated Tremor/Ataxia Syndrome, Fragile X-associated Primary Ovarian Insufficiency, X-Linked Intellectual Disability Fragile X-Associated Disorders FMR1
FRAXE Intellectual Disability, X-Linked Intellectual Disability FRAXE (FMR2) DNA Analysis FMR2
Legius syndrome Legius syndrome SPRED1
Autism Spectrum Disorder, Developmental Delay, Intellectual Disability, Multiple Congenital Anomalies Microarrays: SNP+CGH Array and 180K Oligo Array
Myotonic dystrophy, type 2 Myotonic dystrophy, type 2 CNBP
Neurofibromatosis 1 , von Recklinghausen disease Neurofibromatosis 1 (NF1) NF1
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
Nevoid basal cell-carcinoma syndrome (NBCCS), Gorlin syndrome PTCH1/Nevoid Basal Cell-Carcinoma Syndrome PTCH1
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 Rett Syndrome (including atypical Rett syndrome) MECP2, CDKL5, FOXG1, MEF2C
Tuberous sclerosis complex (TSC) Tuberous Sclerosis Complex TSC1, TSC2
von Hipple-Lindau (VHL) disease Von Hippel-Lindau Disease VHL
X-Linked Intellectual Disability XLID Next-Gen Panel ABCD1, ACSL4/FACL4, AGTR2, AP1S2, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX/XNP/XH2, BCOR, BRWD3, CASK, CDKL5, CUL4B, DCX, DKC1, DLG3, FANCB, FGD1, FLNA/FLN1, FMR1, FTSJ1, GDI1, GJB1/CMTX1, GK, GPC3, GRIA3, HCCS, HPRT1, HSD17B10/HADH2, HUWE1, IDS, IL1RAPL1, KDM5C/JARID1C/SMCX, KIAA2022, L1CAM, LAMP2, MAOA, MECP2, MED12/HOPA, MID1, MTM1, NDP, NDUFA1, NHS, NLGN3, NLGN4/NLGN4X, UPF3B, OCRL, OFD1, OPHN1, OTC, PAK3, PDHA1, PGK1, PHF6, PHF8, PLP1, PORCN, PQBP1, RPL10, PRPS1, RPS6KA3/RSK2, SHROOM4/KIAA1202, SLC9A6, SLC16A2/MCT8, SMC1A/SMC1L1, SMS, SOX3, SRPX2, SYN1, SYP, TIMM8A, TSPAN7/TM4SF2, UBE2A, ZDHHC9, ZNF41, ZNF81, ZNF674, ZNF711