UCSD Biochemical Genetics

A Program in the Division of Genetics, Department of Pediatrics, University of California San Diego
 
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Test: Orotic Acid
Comments:Orotic aciduria may be seen in deficiency of orotate decarboxylase, ornithine transcarbamylase deficiency, or following a single dose of allopurinol in females who are carriers for ornithine transcarbamylase deficiency. We use gas chromatography-mass spectrometry for definitive identification.
Specimen type:Urine
Sample Requirements:Urine, 10-20 mL (minimum 5 mL), frozen without preservatives and shipped frozen (packed with dry ice).
Turnaround time:Routine: 5-7 working days, Stat: 2 days.

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