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 |
|---|---|---|
| Amyotrophic Lateral Sclerosis (ALS) | Amyotrophic Lateral Sclerosis (ALS) | ANG, FIG4, FUS, SOD1, TARDBP |
| 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 |
| Pompe Disease | Pompe Disease | GAA |
| 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 |