Chromosome Analysis, Routine; Rule Out Mosaic (Blood)

Test Information

Chromosome mosaicism is defined as the presence of two or more cell lines with different chromosome constitutions in a single individual. Chromosome analysis to rule out mosaicism includes routine karyotyping using G-banded preparations, but additional cells are counted compared to routine chromosome analysis. A minimum of 50 cells are counted and 5 cells are analyzed.

Turnaround Time

3 weeks

CPT Code(s)

88230, 88263, 88285 x5, 88291

Cost

$755

Specimen Requirements

5-7 ml of whole blood in a green top (sodium heparin) tube is needed for chromosome analysis. For newborns and small infants, 2-3 ml of blood in a sodium heparin, green top is acceptable.

Transport Instructions

The specimen should be kept at room temperature and delivered via overnight shipping. Blood samples need to arrive to the lab within 24 hours of blood draw. Do not freeze the specimen.

Have Questions? Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC

Lucy's Story

When our daughter Lucy had a metabolic crisis at 7 days old, we were shocked and devastated to find out that she was born with a rare genetic disorder (MSUD). Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her. Calls were made to Greenwood Genetic Center to confirm her diagnosis and guide her care. Dr. Champaigne and Ami...

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