The Metabolic Laboratory at Children’s Hospital of Orange County is committed to the diagnosis and treatment of inborn errors of metabolism. We offer a range of sophisticated biochemical tests for testing pertinent to the diagnosis of inborn errors of metabolism. The laboratory routinely performs qualitative detection and quantitative determination of diagnostic markers based on a variety of chromatographic methods, particularly gas chromatography/ Mass spectrometry (GC/MS) and tandem Mass Spectrometry (MS/MS).
We currently offers expert diagnostic testing of organic acidemias, fatty acid oxidation defects and amino acids. We are constantly adding new diagnostic tests that will help physicians in diagnosing and managing metabolic disorders. Consultative services are also available on request to Physicians to aid in the proper management of these rare conditions. When the laboratory results provided do not provide a definitive diagnosis we would be glad to help discuss further options.
The laboratory operates on a normal 5-day business week. Samples for urine organic acids are normally analyzed within three business days of arrival. Upon request, a "STAT" service is available for results within 24 hours of sample receipt. Results of the most frequently requested tests, the urine organic acids and the acylcarnitine profile, are normally available within a week of sample receipt. We do report unusual results that require immediate attention by FAX or phone; normal results are not reported until all test results are complete and a final interpretation is issued. The current status of any test is available on request.
CHOC Metabolic laboratory is certified by the College of American Pathologists (CAP), by CLIA and by the State of California. We currently participate in national and international proficiency testing programs.
1201 West La Veta - Fifth Floor, Rm 530
Orange, CA 92868-3874
Tel: (714) 509 4382
Fax: (714) 509 8362