Cytogenetics / Cytogenomics Laboratory

The Cytogenetics/Cytogenomics Laboratory, located at the UC San Diego Center for Advanced Laboratory Medicine (CALM), is a full-service facility providing chromosome, FISH and microarray analysis of peripheral blood, bone marrow, and tissue specimens, including:

  • Amniotic fluid
  • Chorionic villi
  • Tissues (products of conception, skin biopsies, etc.)
  • Peripheral blood
  • Leukemic blood
  • Bone marrow
  • Solid tumors
  • FFPE (HER2 and lymphoma testing)

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

Chromosomal Analysis

Complete cell culture services and chromosomal analysis on blood, bone marrow, and tissue specimens. All studies are performed using a computer-assisted digital imaging and karyotyping system.

Chromosome Analysis

Microarray Analysis

High-density SNP microarray analysis is performed to detect copy number changes in constitutional, prenatal, solid tumors and leukemic studies.

Constitutional Microarray

Oncology Microarray

FISH (fluorescence in situ hybridization) Analysis

FISH analysis for microdeletion syndromes, neoplastic studies, hematologic disorders and sarcoma, including HER-2 amplification analysis in FFPE.

Oncology FISH Panels

  • FISH MDS
    • 5q-, 7q-, +8, 13q-, TP53, 20q-
  • FISH AML
    • 5q-, 7q-, +8, RUNX1T1/RUNX1, KMT2A, 13q, CBFB, TP53, RARA, 20q
  • FISH MPN
    • FIP1L1/CHIC2/PDGFRA, PDGFRB, FGFR1, t(9;22), JAK2
  • FISH ALL
    • CRLF2, +4, +6, t(9;22), KMT2A, ETV6, IGH, +17, TCF3, +21
  • FISH T-ALL
    • CRLF2, ALK, +4, +6, t(9;22), KMT2A, ETV6, IGH, TRA/D,+17, TCF3, +21
  • FISH B-cell Lymphoma
    • BCL6, 6q-, MYC, t(11;14), t(14;18)
  • FISH T-cell Lymphoma
    • ALK, BCL6, 6q-, MYC, t(11;14), TRA/D, t(14;18)
  • FISH CLL
    • 11q-, t(11;14), +12, 13q-, 17p-
  • FISH Multiple Myeloma
    • 1p/1q, t(4;14), +5, +7, MYC, t(11;14), 13q- / -13, t(14;16), 17p-

HER-2 FISH

List of Oncology FISH Probes

List of Constitutional FISH probes

Directors, Staffing and Licensing

The laboratory is under the direction of:

  • Sarah Murray, Ph.D., FACMG, Director of Medical Genetics and Genomics
  • Kiely James, Ph.D., FACMG, Associate Director of Medical Genetics and Genomics
  • Nam Nguyen, BS, Clinical Lab Supervisor II

The Cytogenetics/Cytogenomics Laboratory is staffed by licensed Clinical Laboratory Scientists specializing in cytogenetics. 

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

Contact Information

Phone: 858-657-5784
Fax: 858-657-5834
Email: cytogenetics@health.ucsd.edu

Hours: 8 a.m. to 6 p.m., Monday through Friday

Physical address:
10300 Campus Pointe Drive, Suite 150

Mailing address:
Center for Advanced Laboratory Medicine
Cytogenetics/Cytogenomics
10300 Campus Pointe Dr., MC 7181
San Diego, CA 92121-1504

Bulk accounts: To set up a bulk account and obtain a customized requisition form, contact Carlo Martinez at 858-657-5702 or ctmartinez@health.ucsd.edu.