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Diagnostic Services

Genetics Lab

Orotic Acid Quantitation

Orotic acid is an organic acid that is elevated in the urea cycle disorders orthine transcarbamylase deficiency and hyperornithinemia, hyperammonemia, homocitrullinemia (HHH syndrome). Urea cycle disorders are inherited disorders of protein metabolism that lead to markedly elevated ammonia in blood and tissues.

Test Name: Orotic Acid, Urine
Test Code:
ORG ACIDS
Test Description:
Quantitative measurement of orotic acid in urine. Part of urine organic acid assay.
Synonyms:
organic acids, urine
Indication:
This test is useful in the evaluation of the individual with hyperammonemia when a urea cycle disorder is suspected. Specifically, ornithine transcarbamylase deficiency or HHH syndrome. It can also be used for follow-up of known patients for assessment of management.
Related Tests: Organic Acid Analysis, Urine  
For confirmation of newborn screening results, evaluating patients with episodes of lethargy or vomiting suggestive of a metabolic disorder and for follow-up of known patients for assessment of management.

Amino Acids, Quantitative  
For confirmation of newborn screening results, evaluating patients with episodes of lethargy or vomiting suggestive of a metabolic disorder and for follow-up of known patients for assessment of management.

Clinical Links: Urea Cycle Disorders Gene Review
Availability:
Run twice weekly
Turnaround Time:
3-5 days
Methodology:
GCMS
Reference Range:
Age-specific reference ranges provided in report
Requisition:
BiochemicalGenetics.pdf
Consent Form:
Sample Requirements: Type
Urine: 10ml random urine

Processing
Freeze

Shipping
Ship frozen overnight
Samples Received:
Mon - Fri 8:00am - 5:00pm
Special Considerations:
Cost:
Please e-mail Client Services or call at 206-987-2617 with any billing questions
CPT Code:
Please e-mail Client Services or call at 206-987-2617 with any billing questions