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 regular lab requisition form, a requisition for research tests, or a requisition for mitochondrial tests 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
regular tests or a detailed
listing of our clinical research tests
(also in Adobe Acrobat PDF format), or
viewing the UCSDW3BG (world-wide-web biochemical genetics lab test listing).
Our lab is certified by CLIA and CAP; copies of
certificates are posted here.
| ROUTINE TESTS | CLINICAL RESEARCH TESTS |
| AMINO ACIDS, QUANTITATIVE ANALYSIS - Plasma, Urine, CSF |
HYPOXANTHINE-GUANINE PHOSPHORIBOSYL
TRANSFERASE FOR CARRIER DETECTION - Hair Roots |
| CARNITINE, QUANTITATIVE ANALYSIS - Urine, Plasma, Tissue |
HYPOXANTHINE-GUANINE
PHOSPHORIBOSYL TRANSFERASE - |
| CABOXYLASES (Pyruvate, Propionyl-CoA, and
3-Methylcrotonyl-CoA) - Blood, Cultured Cells |
MITOCHONDRIAL DNA; HIGH SENSITIVITY SINGLE POINT MUTATION: MELAS
- |
| COENZYME Q10 ANALYSIS - Plasma, Muscle |
MITOCHONDRIAL DNA; HIGH SENSITIVITY
SINGLE POINT MUTATION: MERRF - Blood, Tissue |
| CYSTINE, INTRACELLULAR- Quantitative, for Diagnosis and
Therapeutic Monitoring of Cystinosis- Prepared Leukocytes. Cultured Cells (see Cystinosis Central) |
MITOCHONDRIAL DNA; HIGH SENSITIVITY
SINGLE POINT MUTATION: NARP - Blood, Tissue |
| FIBROBLAST/AMNIOCYTE CULTURE SERVICES - Biopsy, Cultured Cells |
MITOCHONDRIAL DNA; DEPLETION ANALYSIS -
|
| HOMOCYST(E)INE, TOTAL - Plasma |
OXYPURINE QUANTITATION - Urine |
| HYPOXANTHINE-GUANINE PHOSPHORIBOSYL TRANSFERASE - Blood Spots |
|
| MCAD (MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE) COMMON
ALLELE DETECTION - Blood, Cells |
|
| METABOLIC PANEL (PLASMA QUANTITATIVE AMINO ACIDS AND URINE
QUANTITATIVE ORGANIC ACIDS SCREEN) - Urine and Plasma |
|
| METHYLMALONIC ACID (MMA) QUANTITATION - Urine, Plasma |
|
| MITOCHONDRIAL DNA PANEL - Blood, Muscle |
|
| MITOCHONDRIAL DNA SINGLE POINT MUTATION - Blood, Muscle |
|
| MITOCHONDRIAL DNA SOUTHERN BLOT - Blood, Muscle |
|
| N-ACETYLASPARTATE QUANTITATION - Urine |
|
| ORGANIC ACIDS, QUANTITATIVE COMPREHENSIVE - Urine, Plasma, CSF |
|
| SCREEN, QUANTITATIVE ORGANIC ACIDS - Urine |
|
| OROTIC ACID QUANTITATION - Urine |
|
| SUCCINYLACETONE QUANTITATION - Urine |
|
| 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-May-2008