Clinical Genomics Laboratory

The Clinical Genomics Laboratory, located at the UC San Diego Center for Advanced Laboratory Medicine (CALM), performs DNA- and RNA-based testing for both inherited disease and oncology disorders.

Testing methodologies include Next Generation Sequencing (NGS), real-time PCR with fluorescence monitoring for quantitative analysis and allelic discrimination, fragment analysis, and Sanger sequencing.

Please visit the UC San Diego Health Test Menu to view a full catalog of tests offered by UC San Diego Health. The tests offered by the Clinical Genomics Laboratory are listed below with links to the Test Menu.

Oncology:

• TSO500 NGS Solid Tumor Mutation Panel (523 genes)
• NGS Hematologic Malignancy Mutation Panel (123 genes), blood or bone marrow or FFPE
• Rapid NGS Myeloid Panel (45 genes and 35 fusion drivers)
• Rapid NGS Solid Tumor Panel (50 genes including fusion drivers)
• Solid Tumor Circulating Tumor DNA (ctDNA) Liquid Biopsy Assay (33 genes including fusion drivers)
• BCR-ABL1, Major (p210), Quantitative, blood or bone marrow
• BCR-ABL1, Minor (p190), Quantitative, blood or bone marrow
• JAK2 Mutation (V617F), blood or bone marrow
• MPL (W515K/L) Mutations
• Calreticulin Mutation Analysis, blood or bone marrow
• T-Cell Receptor Gamma Gene Rearrangement, blood or bone marrow or FFPE
• B-Cell Clonality (IgH and IgK), blood or bone marrow or FFPE
• BRAF Mutation Analysis by DNA Sequencing (Exon 15)
• KRAS Mutation Analysis

Inherited Diseases:

• Whole exome sequencing, proband only or related controls
• Cardiomyopathy and Arrythmia Comprehensive Sequencing Panel (124 genes)
• Hereditary (Germline) Bone Marrow Failure and Myeloid Malignancy Panel (80 genes)
• Lipidemia Comprehensive Sequencing Panel (25 genes)
• Cystic Fibrosis (CFTR) 171 Mutations
• Spinal Muscular Atrophy (SMN1 and SMN2 copy number, c.*3+80T>G and c.*211_*212del linked variants)
• Huntington Disease (HTT)
• Factor V (F5) Leiden Mutation, c.1601G>A (p.R506Q)
• Prothrombin (F2) Mutation, c.*97G>A
• Methylenetetrahydrofolate Reductase (MTHFR), 2 Mutations: c.665C>T (p.A222V) and c.1286A>C (p.E429A)
• Hereditary Hemochromatosis (HFE), 2 Mutations: c.845G>A (p.C282Y) and c.187C>G (p.H63D)

Contact Information

Phone: 858-657-5776 (Main Lab)
Fax: 858-657-5834
Email: fgaquino@health.ucsd.edu
Hours: 8 a.m. to 5 p.m., Monday through Friday. 8 a.m. to 4 p.m. on weekends.
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

Directors, Staffing and Licensing

The laboratory is under the direction of:

• Wei Song, MD, Ph.D. (Oncology), Director of Clinical Genomics and Molecular Pathology
• Sarah Murray, Ph.D., FACMG (Inherited Diseases), Director of Medical Genetics and Genomics
• Frank Aquino, CLSp (MB ASCP), Senior Supervisor 

The Clinical Genomics Laboratory 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