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 |
|---|---|---|
| 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 | |
| Chromosomal Microarray, Autism/Autism Spectrum Disorder, Developmental Delay, Multiple Congenital Anomalies, Dysmorphism, Mental Retardation | Microarrays: SNP+CGH Array and 180K Oligo Array | |
| PTEN-Related Disorders (including Autism Spectrum Disorder), Cowden Syndrome, PTEN Hamartoma Tumor syndrome (PHTS), Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, Autism / Autism spectrum disorder | PTEN-Related Disorders (including Autism Spectrum Disorder) | PTEN |
| Typical and Atypical Rett Syndrome, Rett Syndrome | Typical and Atypical Rett Syndrome |