Karyotype analysis includes complete chromosome analysis of at least twenty metaphases with at least two cut karyotypes. The presence or absence of an acquired clonal chromosomal abnormality may aid in defining diagnosis and prognosis, treatment response, and relapse, or evaluate for secondary hematologic malignancy. Chromosome analysis on potential donors may also be requested to rule out a genetic clonal process.
Bone marrow is the preferred specimen for karyotype analysis for hematologic disorders, but peripheral blood may be used if spontaneously dividing cells are present (e.g., >5% blasts in the periphery) or for certain diseases as follows:
Chronic lymphocytic leukemia - peripheral blood may be studied instead of bone marrow if abnormal cells are present. CLL samples are often stimulated with B cell mitogens because the tumor cells in this disease of B cell origin are well differentiated.
Agnogenic myeloid metaplasia (AMM) and myelofibrosis - dividing cells for cytogenetic analysis may be obtained from unstimulated peripheral blood when a sufficient bone marrow aspirate cannot be obtained, even if <5% peripheral blasts are present.
The Cytogenetics Laboratory does not perform fragility testing for Fanconi Anemia (also known as a breakage study). This test will be sent out by UW Medicine as a reference test.
Please contact the laboratory at firstname.lastname@example.org or (206) 606-1390 to request additional details of performance characteristics for karyotype analysis.