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Blood Chromosome Analysis for Acquired Abnormalities


Chromosome analysis of unstimulated blood is performed to detect acquired chromosome abnormalities associated with hematologic disease processes, such as acute leukemia, myeloproliferative and lymphoproliferative disorders, and myelodysplastic syndromes. This test should not be requested unless the patient has more than 5% circulating blasts.



15-20 metaphases are examined and a minimum of 3 karyotypes are prepared.

Molecular cytogenetic studies using fluorescence in situ hybridization (FISH) are often performed in addition to the chromosome analysis. See FISH for Chromosome Abnormalities in Cancer.


Specimen Requirements
    • Submit 3-6 cc peripheral blood in a sodium heparin (green top) vacutainer
    • Label specimen tube with patient’s name and a second identifier (ex: DOB, hospital ID)
    •  Maintain specimen at room temperature and transport to the Colorado Genetics Laboratory immediately

Note: Peripheral blood is not the tissue of choice for diagnosing leukemia.  It should only be submitted if bone marrow cannot be aspirated or as a backup if only a bone marrow core biopsy can be submitted.

Samples must be accompanied by a completed Test Request Form.​​  Indicate test request in the "Cancer Specimens" section of the form.  Also include clinical data and diagnostic issues, which help focus the analysis.