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Cytogenetics Laboratory

The Cytogenetics Laboratory at UCSF Medical Center performs a wide range of standard and molecular cytogenetic testing, including various chromosome banding analysis, fluorescence in situ hybridization (FISH) and DNA array-based comparative genomic hybridization (aCGH) for constitutional chromosomal disorders and cancers.

In addition, the lab is one of the few of its kind in the world that has the ability to perform advanced chromosome microdissection-based techniques to quickly and precisely characterize chromosomal rearrangements which provide insight into various conditions that other methods may not be able to characterize.

The lab provides analysis on prenatal specimens, such as amniotic fluid, chorionic villi and fetal cord blood; postnatal specimens, such as peripheral blood and skin biopsy; products of conception and cancer specimens, such as marrow and bone core. In addition, the lab may also provide cytogenetics analysis for stem cells and other cultured cells for research and other purposes upon request and availability of lab resources.

Established in 2005, the laboratory is located at UCSF's China Basin campus. It is certified by the Clinical Laboratory Improvement Act (CLIA,) College of American Pathologists (CAP) and California Department of Health Services for providing clinical testing.

Getting Here

Cytogenetics Laboratory at China Basin
185 Berry St., Suite 290
San Francisco, CA 94107
Phone: (415) 353-4844
Fax: (415) 353-4877

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This clinic uses UCSF MyChart, an online patient service. Message your provider, request medication refills, view some test results and more.

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Research and Clinical Trials

Cytogenetics Testing

The laboratory provides molecular and cytogenetics testing for the following conditions:

Inherited Disorders

  • Biochemical disorders, including cystic fibrosis, congenital bilateral absences of the vas deferences (CBAVD), medium chain of acylCoA deficiency (MCAD) and hemochromatosis
  • Hearing disorders
  • Hematological disorders, including hemophilia A, venous thrombosis and thalassemias and hemoglobinopathies
  • Imprinting disorders, including Angelman syndrome and Prader-Willi syndrome
  • Neurological disorders, including fragile X syndrome, frontotemporal dementia and Huntington's disease


  • Hematopathology disorders, including Chronic Myelogenous Leukemia (CML) and Acute Lymphocytic Leukemia (ALL)
  • Solid tumors, including bladder cancer, breast cancer, melanoma and 1p19q deletions
  • Inherited cancer, including breast cancer
  • Cancer cytogenetics

Infectious Diseases

  • Viral infections, including HIV-1 RNA, HCV RNA, HCV genotyping, EBV DNA, HPV high-risk DNA types and chlamydia trachomatis
  • Bacterial infections
  • Mycobacterial infections


Cancer drugs tested include:

  • Irinotecan
  • Tamoxifen

Non-cancer drugs tested include:

  • Warfarin
  • Phenytoin
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