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Chromosome Analysis, Mosaicism
Test Code14597
CPT Codes
88230, 88263
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Preferred Specimen
5 mL whole blood collected in sodium heparin (green-top) tube, or sodium heparin (royal blue-top) tube, or sodium heparin lead-free (tan-top) tube
Minimum Volume
1 mL
Instructions
Clinical history/reason for referral is required with test order.
Ship at room temperature. Specimen viability decreases during transit. Do not freeze. Do not reject.
Preliminary results available for neonatal specimens three days after receipt.
Ship at room temperature. Specimen viability decreases during transit. Do not freeze. Do not reject.
Preliminary results available for neonatal specimens three days after receipt.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: Preferred
Refrigerated: Acceptable
Frozen: Unacceptable
Refrigerated: Acceptable
Frozen: Unacceptable
Methodology
Karyotype • Microscopy • Tissue Culture
Setup Schedule
Set up: Daily; Report available: 10 days
Reference Range
See Laboratory Report
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).
