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N-acetylaspartate quantitation

Item Value
Approval req'd? No
Available Stat? No
Test code MOLT
Performed by UC San Diego
Sendout? Yes
Method GC-MS
Container type Urine cup
Amount to Collect See preferred volume
Sample type Random urine w/out preservative
Preferred volume 20 mL urine
Min. Volume 5 mL urine
Processing notes Freeze at -20C and ship on dry ice
Normal range
Turn around times 7 days
Additional information Gross elevations may be useful in the diagnosis of Canavan disease.

References:

Matalon R. 1997 Canavan disease: diagnosis and molecular analysis Genet. Test 1:21-25

Matalon R, Michals K, Sebesta D, Deanching M, Gashkoff P, Casanova J. 1988. Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease. Amer. J. Med Genet. 29:463-471.
Last Updated 3/24/2013 7:51:29 PM
Entry Number 678

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