The Biochemical Genetics Laboratory in the Department of Pediatrics at the University of California San Diego has been in operation since the establishment of the UCSD Medical School in 1969. We are involved in the care of patients with inborn errors of metabolism, in related research, and in performance of diagnostic services. We offer many common metabolic tests, and several tests not generally available, which have been developed in the conduct of research or the care of our patients. Please call if we can be of assistance in your diagnostic or therapeutic plans.
Our routine lab tests are listed on-line, or you may be interested in a
downloadable detailed listing of our tests (latter
is also in
Adobe Acrobat PDF format).
We also offer metabolomic research panels.
AMINO ACIDS, QUANTITATIVE ANALYSIS - Plasma, Urine, CSF |
OROTIC ACID QUANTIFICATION - Urine |
CARNITINE, QUANTITATIVE ANALYSIS - Urine, Plasma, Tissue |
METHYLMALONIC ACID (MMA) QUANTIFICATION - Urine, Plasma |
CARBOXYLASES (Pyruvate, Propionyl-CoA, and
3-Methylcrotonyl-CoA) - Blood, Cultured Cells |
N-ACETYLASPARTATE QUANTIFICATION - Urine |
CYSTINE, INTRACELLULAR- Quantitative, for Diagnosis and Monitoring of Cystinosis- Whole blood (Granulocytes), Prepared Leukocytes, Cultured Cells (see Cystinosis Central) |
ORGANIC ACIDS, QUANTITATIVE COMPREHENSIVE - Urine, Plasma, CSF |
FIBROBLAST/AMNIOCYTE CULTURE SERVICES - Biopsy, Cultured Cells |
SCREEN, QUANTITATIVE ORGANIC ACIDS - Urine |
HOMOCYST(E)INE, TOTAL - Plasma |
SUCCINYLACETONE QUANTIFICATION - Urine |
HYPOXANTHINE-GUANINE PHOSPHORIBOSYL TRANSFERASE - Blood Spots |
SUCCINYLPURINE SCREEN - Urine |
Shipping Address: |
Mailing Address: |
Phone: (619) 543-5260
FAX: (619) 543-3565
Our medical, nursing and dietetic staff is listed.
Last edited: 09-Dec-2016