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 |
|---|---|---|
| Congenital Hyperinsulinism, KCNJ11-Related, Neonatal Diabetes, KCNJ11-Related | Congenital Hyperinsulinism, KCNJ11-Related Diabetes | KCNJ11 |
| Hyperinsulinism-Hyperammonemia Syndrome, Congenital Hyperinsulinism, GLUD1-Related | GLUD1 (Hyperinsulinism-Hyperammonemia Syndrome, Congenital Hyperinsulinism) | GLUD1 |
| Neonatal Diabetes (INS-Related), INS-Related Diabetes | INS-Related Diabetes, Neonatal Diabetes (INS-Related) | INS |
| Multiple Endocrine Neoplasia Type 2 (MEN2), MEN2A (Sipple Syndrome), MEN2B (Mucosal Neuroma Syndrome), Familial Medullary Thyroid Carcinoma (FMTC) | Multiple Endocrine Neoplasia Type 2 (MEN2) | RET |