Chromosome Analysis, Mosaicism

Test Code

14597

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 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

Transport Container

Sodium heparin (green-top) tube

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

Daily

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-San Juan Capistrano, CA

33608 Ortega Highway

San Juan Capistrano, CA 92675-2042

Last Updated: November 6, 2024

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.