UCSD Biochemical Genetics Laboratory

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:
Biochemical Genetics Laboratory
UCSD Medical Center
CTF Bldg, Room B-213
212 Dickinson Street
San Diego, CA 92103

Mailing Address:
UCSD Biochemical Genetics Laboratory
Department of Pediatrics, 0830
UCSD School of Medicine
9500 Gilman Drive
La Jolla, CA 92093-0609

Phone: (619) 543-5260
FAX: (619) 543-3565

Our medical, nursing and dietetic staff is listed.

Last edited: 09-Dec-2016


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