Resources for Physicians
The metabolic 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 offer 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.
- Acylcarnitine Profile (blood spot on filter paper)
- Carnitine Total and Free (plasma)
- Phenylalanine/Tyrosine (blood spot on filter paper)
- Phenylketonuria (PKU) (blood spot on filter paper)
- Qualitative Organic Acids (urine)
- Quantitative Amino Acids (plasma)
Lab working hours are Monday-Friday, 8 a.m.-4:30 p.m. PST. Please ship specimens Monday through Thursday. Label each specimen with the patient’s last and first name, date of birth, and date and time of specimen collection. STAT samples require the approval of the lab director; please call 714-509-4382.
For new clients, please call 714-509-7975 to set up an account with CHOC Children’s Laboratory Services prior to sending any specimens.