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 |
|---|---|---|
| Familial Adenomatous Polyposis (FAP), Gardner Syndrome, Turcot Syndrome, Attenuated FAP (AFAP) | APC Amplified | APC |
| Hereditary Diffuse Gastric Cancer | Hereditary Diffuse Gastric Cancer | CDH1 |
| HNPCC (Hereditary Non-Polyposis Colon Cancer), Lynch Syndrome, Muir-Torre Syndrome, Turcot Syndrome | HNPCC / Lynch syndrome DNA Analysis | EPCAM, MLH1, MSH2, MSH6, PMS2 |
| MUTYH-associated polyposis (MAP) | MUTYH-associated Polypsis (MAP) | MUTYH |
| Pancreatitis | Pancreatitis Plus Panel (CFTR, PRSS1, SPINK1, CTRC sequence) | PRSS1, SPINK1, CFTR, CTRC |
| Peutz-Jeghers Syndrome | Peutz-Jeghers AMPLIFIED™ | STK11 |
| Hirschsprung Disease, RET-Related | RET-Related Hirschsprung Disease | RET |
| Shwachman-Diamond Syndrome (SDS) | Shwachman-Diamond Syndrome | SBDS |
| Wilson Disease | Wilson Disease | ATP7B |