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|
|Familial Mediterranean fever||MEFV||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|