Chromosome analysis of bone marrow is performed to detect acquired chromosome abnormalities associated with hematologic disease processes, such as acute leukemia, myeloproliferative and lymphoproliferative disorders, and myelodysplastic syndromes.
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 bone marrow chromosome analysis. See FISH for Chromosome Abnormalities in Cancer.
Bone marrow aspirate
- Obtain cytogenetic sample immediately after sample collection for morphology studies
- Rinse barrel of syringe with sodium heparin and discharge excess, leaving 0.5 ml for a 3-5 ml sample or less for a smaller sample
- Minimum sample requirement is 1 ml, with 3 ml optimum
- Gently discharge sample from syringe into a screw-top plastic tube or red top (no additive) tube
- If specimen is not heparinized at collection, place in green top, sodium heparin tube
- 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
Bone marrow core
- Indicated in cases of packed marrow
- Obtain 3-10 mm and place in sterile, plastic screw-top tube containing culture media
- 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 Lab immediately
Complete a Test Request Form. Indicate test request in the “Cancer Specimens” section of the form, and include clinical data and diagnostic issues, which help focus the analysis. Pathology reports are also requested.