Neurometabolic disorders cause problems with the body converting one product to another. If there is a problem with this, there can be too much of certain products and too little of others. Imbalances like these can impact the development and function of the nervous system, and often impact many other body systems as well.
Neurometabolic disorders range from acute, life-threatening disease to chronic and slowly progressive over decades. Presenting symptoms often include seizures and the loss of a variety of developmental functions. Accurate diagnosis often involves a combination of clinical assessment, biochemical testing, and molecular genetic testing. To better serve the needs of clinicians and patients, Ambry offers genetic testing options for a variety of neurometabolic disorders.
|Batten disease/Neuronal ceroid lipofuscinosis (NCL)||PPT1, TPP1, CLN3, DNAJC5, CLN5, CLN6, MFSD8, CLN8, CTSD, GRN, ATP13A2, CTSF, KCTD7||4-6 weeks|
|Niemann-Pick disease type C||NPC1, NPC2||2-4 weeks|
|Pelizaeus-Merzbacher disease||PLP1||2-4 weeks|
|Canavan disease||ASPA||2-4 weeks|
|Gaucher disease||GBA||2-4 weeks|
|Hunter syndrome||IDS||2-4 weeks|
|Lesch-Nyhan syndrome||HPRT1||2-4 weeks|
|Menkes and related syndromes||ATP7A||2-4 weeks|
|Ornithine transcarbamylase (OTC) deficiency||OTC||2-4 weeks|
|Tay-Sachs disease||HEXA||2-4 weeks|
|Wilson disease||ATP7B||2-4 weeks|
|X-linked adrenoleukodystrophy||ABCD1||2-4 weeks|