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Chromosome Analysis, Mosaicism
Test Code14597
CPT Codes
88230, 88263
Preferred Specimen
5 mL whole blood collected in a sodium heparin (green-top) tube
Minimum Volume
1 mL
Other Acceptable Specimens
Sodium heparin (royal blue-top) tube • Sodium heparin lead-free (tan-top) tube
Instructions
3-5 mL whole blood collected in a sodium heparin tube
Transport Temperature
Room temperature
Specimen Stability
Room temperature: Preferred
Refrigerated: Acceptable
Frozen: Unacceptable
Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject.
Methodology
Karyotype • Microscopy • Tissue Culture
Setup Schedule
Set up: Daily; Report available: 10 days
Clinical Significance
This chromosome study will examine 50 metaphase cells, whereas a standard chromosome analysis will examine 20 metaphase cells. This test for mosaicism is used to assess for constitutional chromosomal mosaicism or chimerism. While standard chromosome analysis can detect mosaicism ≥14%, this test can detect mosaicism ≥6% (at a 95% confidence level).
