Clinical Genomics Laboratory

The Clinical Genomics Laboratory, located at the UC San Diego Center for Advanced Laboratory Medicine, performs DNA- and RNA-based testing for inherited disease and acquired mutations/gene rearrangements for hematopathology evaluations or oncology disorders.

Testing methodologies are PCR and RT-PCR based and include allelic discrimination assays, fragment analysis assays, sequencing assays and real-time quantitative analysis.

Tests Offered

For requisition forms and submittal instructions, see How to Submit a Specimen.

  • Cystic Fibrosis (CFTR) 32 Mutations
  • Huntington Disease
  • Factor V (F5) Leiden Mutation (R506Q)
  • Prothrombin (F2) Mutation (G20210A)
  • Methylenetetrahydrofolate Reductase (MTHFR) 2 Mutations
  • Hereditary Hemochromatosis 2 Mutations
  • Maternal Cell Contamination by STR
  • BCR-ABL1, Major (p210), Quantitative
  • BCR-ABL1, Minor (p190), Quantitative
  • JAK2 Mutation (V617F)
  • MPL (W515K/L) Mutations
  • Chimerism, Baseline Donor
  • Chimerism, Baseline Recipient
  • Chimerism, Post Transplant Total
  • Chimerism, Post Transplant T-Cell
  • Chimerism, Post Transplant Myeloid
  • T-Cell Receptor Gamma Gene Rearrangement
  • Cancer Gene Mutation Panel I
  • Solid Tumor Mutation Panel (397 Genes)
  • B-Cell Clonality (IgH and IgK)
  • Calreticulin Mutation Analysis
  • MGMT Promotor Methylation
  • BRAF Mutation Analysis by DNA Sequencing (Exon 15)
  • NRAS Mutation Analysis by DNA Sequencing (Exons 2,3 and 4)
  • KRAS Mutation Analysis

Contact Information

Phone: 858-657-5776
Fax: 858-657-5834
Hours: 8 a.m. to 5 p.m., Monday through Friday
Physical Location: 10300 Campus Point Drive, Suite 150
San Diego, CA 92121
Mailing address:
Center for Advanced Laboratory Medicine
Clinical Genomics Laboratory
10300 Campus Point Drive, MC 7181
San Diego, CA 92121-1504

How to submit specimens

Directors, Staffing and Licensing

The laboratory is under the direction of:

  • John Thorson, MD, PhD, ABMG Certified Molecular Genetic Pathologist
  • Frank Aquino, CLSp (MB ASCP), Senior Supervisor 

It is staffed by licensed Clinical Laboratory Scientists specializing in molecular biology.

The laboratory is licensed by the State of California Department of Public Health and accredited by the College of American Pathologists.

CLIA # 05D0913715
CAP # 2320302