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
Gaucher disease, Glucocerebrosidase deficiency, Glucosylceramidase deficiency Gaucher Disease GBA
Lesch-Nyhan syndrome, Hypoxanthine-guanine phosphoribosyltransferase deficiency, HGPRT Deficiency, HPRT Deficiency, Lesch-Nyhan disease Lesch-Nyhan syndrome HPRT1
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
Menkes syndrome , Menkes disease, Occipital horn syndrome, ATP7A-related distal motor neuropathy Menkes and related syndromes ATP7A
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
Niemann-Pick disease type C, Juvenile Niemann-Pick disease Niemann-Pick Disease Type C
Ornithine transcarbamylase (OTC) deficiency ORNITHINE TRANSCARBAMYLASE DEFICIENCY OTC
Hereditary cancer, Hereditary paraganglioma-pheochromocytoma syndrome, Neuroendocrine tumors, Paraganglioma, Pheochromocytoma PGLNext FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL
PLP1-Related Disorders, Pelizaeus-Merzbacher disease (PMD), Sudanophilic leukodystrophy, Spastic paralegia 2 (SPG2) PLP1-Related Disorders PLP1
Smith-Lemli-Opitz Syndrome Smith-Lemli-Opitz Syndrome (SLOS) DHCR7
Tay-Sachs Disease Tay-Sachs Disease HEXA
X-linked adrenoleukodystrophy, Adrenoleukodystrophy X-Linked Adrenoleukodystrophy ABCD1