Genetic conditions with endocrine or metabolic involvement may cause independent or interrelated symptoms, but can pose serious complications to individuals at various ages. Early diagnosis and treatment (if available) can significantly impact one’s prognosis and outcome. Several flexible molecular testing options are available to aid in diagnostic assessment, confirmation, and identification of at-risk family members.

Ambry has a comprehensive testing menu for numerous inherited disorders, suitable for many medical subspecialties. Our responsible adoption of new technologies, helpful customer service, and clear results interpretation make us an ideal partner to help you find the answer for your patients and their families. Below, our testing for disorders with endocrine or metabolic involvement is listed, with links for more details.

Condition Name Genes TAT (days)
Batten disease/Neuronal ceroid lipofuscinosis (NCL) ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1     4-6 weeks
Canavan disease ASPA 14-28
Familial Mediterranean fever MEFV 14-28
Gaucher disease GBA 14-28
Hunter syndrome IDS 14-28
Lesch-Nyhan syndrome HPRT1 14-28
Maturity-onset diabetes of the young (MODY) HNF1B, HNF4A, PDX1, HNF1A, GCK 4-5 weeks
Menkes and related syndromes ATP7A 14-28
Niemann-Pick disease type C NPC1, NPC2 14-28
Ornithine transcarbamylase deficiency OTC 14-28
PLP1-related disorders PLP1 14-28
Smith-Lemli-Opitz syndrome DHCR7 14-28
Tay-Sachs disease HEXA 14-28
Wilson disease ATP7B 14-28
X-linked adrenoleukodystrophy ABCD1 14-28


You can view a complete listing of Ambry’s testing options organized by disease here, and by gene here