Neurometabolic Disorders



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.

Condition Name Gene(s) TAT
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