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Alternative Name
Constitutional Cytogenetics, Constitutional Karyotyping
Methodology
Cytogenetics
Test Description

Constitutional chromosome analysis evaluates a patients’ cellular composition for normal-appearing chromosomes or chromosome abnormalities. Chromosome abnormalities can include atypical number of chromosomes, gene additions, deletions, and/or structural rearrangements. This can lead to birth defects, developmental delay, pregnancy loss, infertility, and other abnormalities. For more information on testing for chromosome abnormalities as cause of pregnancy loss, please refer to Products of Conception (POC) Chromosome Analysis testing. For more information on oncology based cytogenetic analysis, please refer to Oncology Chromosome Analysis testing. Constitutional chromosome analysis is performed by Genetics Associates, Inc. Preliminary blood chromosome results from newborns aged 7 days or under will be called to the client within 48 hours from receipt in the testing laboratory. Client’s will receive the final reported results per their usual preferred communication method.

Specimen Requirements
  • Peripheral Blood: 2-5 mL sodium heparin tube.
  • Note: Please exclude biopsy needles, blades, and other foreign objects from transport tubes. These can compromise specimen viability and yield, and create hazards for employees.
Storage and Transportation

Do not freeze. Use cold pack for transport, make sure cold pack is not in direct contact with specimen.

CPT Code(s)*
Standard study: 88230x2, 88262, 88280, 88291. Mosaicism study: 88230x2, 88263, 88291.  Culture failure: 88230.
New York Approved
Yes
Level of Service
Global
Turnaround Time

Peripheral blood: 5 days

*The CPT codes provided with our test descriptions are based on AMA guidelines and are for informational purposes only. Correct CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed.