Metabolic Lab

At CHOC, we are proud to feature a dedicated metabolic laboratory that offers a range of sophisticated biochemical tests to diagnose inherited metabolic disorders.

Our lab provides accurate and rapid tests results which can be especially important with a progressing metabolic disorder.

 Learn more about the CHOC Metabolic Disorders Program

About the CHOC Metabolic Laboratory

The 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.

The metabolic laboratory also includes:

• The CHOC Energy Laboratory – a specialized research lab that has improved the accuracy of diagnosing rare metabolic disorders which had previously escaped detection through commercial laboratories.
• Lysosomal Storage Disease Laboratory – A specialized research laboratory to study new treatments for lysosomal storage diseases, including Pompe Disease.

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.

Tests Offered

• 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 Laboratory Services prior to sending any specimens.