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
Infantile Spasms, CDKL5-Related , Autism/Autism Spectrum Disorder, X-Linked Intellectual Disabilities, Rett Syndrome, MECP2-negative , Angelman Syndrome - like CDKL5 (CDKL5-Related Infantile Spasms and Atypical Rett Syndrome) CDKL5
Fragile X Syndrome, X-Linked Intellectual Disabilities Fragile X DNA Analysis (Fragile X FMR1 Repeat Analysis) FMR1
Autism Spectrum Disorders, X-linked Intellectual Disability , Developmental Delay, Multiple Congenital Anomalies , Dysmorphic Features Fragile X, 180K Oligo Array & SNP+CGH Array
FRAXE Intellectual Disability, X-Linked Intellectual Disabilities FRAXE (FMR2) DNA Analysis FMR2
Chromosomal Microarray, Autism/Autism Spectrum Disorder, Developmental Delay, Multiple Congenital Anomalies, Dysmorphism, Mental Retardation Microarrays: SNP+CGH Array and 180K Oligo Array
Neurofibromatosis type 1, Von Recklinghausen disease , Neurofibromatosis type 1-like syndrome, Legius syndrome Neurofibromatosis Type 1 and Legius Syndrome NF1, SPRED1
Nevoid basal cell-carcinoma syndrome (NBCCS), Gorlin syndrome PTCH1/Nevoid Basal Cell-Carcinoma Syndrome PTCH1
X-Linked Intellectual Disability Targeted XLID Gene Analysis
Typical and Atypical Rett Syndrome, Rett Syndrome Typical and Atypical Rett Syndrome
X-Linked Intellectual Disability XLID Next-Gen Panel (formally known as XLMR) 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, HPRT, HSD17B10/HADH2, HUWE1, IDS, IL1RAPL1, KDM5C/JARID1C/SMCX, KIAA2022, L1CAM, LAMP2, MAOA, MECP2, MED12/HOPA, MID1, MTM1, NDP, NDUFA1, NHS, NLGN3, NLGN4/NLGN4X, NXF5, 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