Chromosome Analysis, Routine; Rule Out Mosaic (Amniotic Fluid)

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

14 days

CPT Code(s)

88235, 88263, 88285 x5, 88291

Cost

$827

Specimen Requirements

This test can be performed from direct amniotic fluid or on cultured amniocytes. If sending direct fluid for microarray only, 10-20 ml of amniotic fluid is requested. Chromosomes and FISH will require an additional 10-15 ml of fluid. If sending cultured flasks, 2x T25 confluent flasks are required. Parental samples are recommended to accompany prenatal specimen. 4-5 ml of peripheral blood should be collected on each parent in an EDTA (lavender top) tube. Additional specimen types include: saliva and extracted DNA.

Transport Instructions

Amniotic fluid should be kept at room temperature; do not freeze or refrigerate. Specimen should be sent by courier or overnight mail to arrive at the laboratory the next day.

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

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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