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.
You may download our lab requisition form here (in Adobe Acrobat PDF format). If you do not have an Acrobat reader on your computer, you should first download Acrobat reader from Adobe (it's free).
You may be interested in downloading a detailed listing of our
tests (also in
Adobe Acrobat PDF format).
Our lab is certified by CLIA and CAP; copies of
certificates are posted here.
| AMINO ACIDS, QUANTITATIVE ANALYSIS - Plasma, Urine, CSF |
MITOCHONDRIAL DNA; HIGH SENSITIVITY SINGLE POINT MUTATION: MELAS
- |
| CARNITINE, QUANTITATIVE ANALYSIS - Urine, Plasma, Tissue |
MITOCHONDRIAL DNA; HIGH SENSITIVITY
SINGLE POINT MUTATION: MERRF - Blood, Tissue |
| CABOXYLASES (Pyruvate, Propionyl-CoA, and
3-Methylcrotonyl-CoA) - Blood, Cultured Cells |
MITOCHONDRIAL DNA; HIGH SENSITIVITY
SINGLE POINT MUTATION: NARP - Blood, Tissue |
| COENZYME Q10 ANALYSIS - Plasma, Muscle |
MITOCHONDRIAL DNA SINGLE POINT MUTATION - Blood, Muscle |
| CYSTINE, INTRACELLULAR- Quantitative, for Diagnosis and
Therapeutic Monitoring of Cystinosis- Prepared Leukocytes. Cultured Cells (see Cystinosis Central) |
MITOCHONDRIAL DNA SOUTHERN BLOT - Blood, Muscle |
| FIBROBLAST/AMNIOCYTE CULTURE SERVICES - Biopsy, Cultured Cells |
N-ACETYLASPARTATE QUANTITATION - Urine |
| HOMOCYST(E)INE, TOTAL - Plasma |
ORGANIC ACIDS, QUANTITATIVE COMPREHENSIVE - Urine, Plasma, CSF |
| HYPOXANTHINE-GUANINE PHOSPHORIBOSYL TRANSFERASE - Blood Spots |
SCREEN, QUANTITATIVE ORGANIC ACIDS - Urine |
| MCAD (MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE) COMMON
ALLELE DETECTION - Blood, Cells |
OROTIC ACID QUANTITATION - Urine |
| METHYLMALONIC ACID (MMA) QUANTITATION - Urine, Plasma |
SUCCINYLACETONE QUANTITATION - Urine |
| MITOCHONDRIAL DNA PANEL - Blood, Muscle |
SUCCINYLPURINE SCREEN - Urine |
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Shipping Address: |
Mailing Address: |
Phone: (619) 543-5260
FAX: (619) 543-3565
Our medical, nursing and dietetic staff is listed.
Last edited: 06-Apr-2010