Tests by Specialty- Endocrinology

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
Canavan Disease, Aminoacylase 2 deficiency, ASPA deficiency, Van Bogaert-Bertrand syndrome Canavan Disease Testing ASPA
Familial Mediterranean Fever Familial Mediterranean Fever MEFV
Maturity-Onset Diabetes of the Young (MODY), Monogenic Type II Diabetes, Autosomal Dominant Type II Diabetes Maturity-Onset Diabetes of the Young (MODY) Testing HNF1B, HNF4A, PDX1, HNF1A, GCK
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
Hereditary Cancer, Hereditary Paraganglioma-Pheochromocytoma Syndrome , Neuroendocrine Tumors, Paraganglioma, Pheochromocytoma PGLNext FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL
Smith-Lemli-Opitz Syndrome Smith-Lemli-Opitz Syndrome (SLOS) DHCR7
Tay-Sachs Disease Tay-Sachs Disease HEXA