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Chromosome Analysis, Mosaicism
Test Code14597
CPT Codes
88230, 88263
Includes
This test may be replaced by Chromosome Analysis, Blood, No Growth if cultures do not yield metaphases for analysis or by a Cytogenetics Communication if a communication is required.
Preliminary results available for neonatal specimens three days after receipt.
Preliminary results available for neonatal specimens three days after receipt.
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.
Transport Temperature
Room temperature
Specimen Stability
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
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).
Performing Laboratory
Quest Diagnostics Nichols Institute
14225 Newbrook Drive
Chantilly, VA 20153

