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.
|Canavan Disease, Aminoacylase 2 deficiency, ASPA deficiency, Van Bogaert-Bertrand syndrome||Canavan Disease Testing||ASPA|
|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|