Chromosome Analysis, Routine; Short Study (Chorionic Villus Sampling)

Test Information

Short study chromosome analysis includes routine karyotyping using G-banding, but fewer cells are analyzed than with routine karyotyping. For short study chromosome analysis, a minimum of 5 cells are counted and a minimum of 2 cells are analyzed for chromosomal abnormalities. Short study chromosome analysis can be used to complement other methods such as microarray to detect certain rearrangements that can only be identified by karyotype. A karyotype can detect chromosome abnormalities such as trisomy, monosomy, triploidy, and marker chromosomes as well as balanced and unbalanced rearrangements.

Turnaround Time

14 days

CPT Code(s)

88235, 88261, 88280, 88291

Cost

$692

Specimen Requirements

Chorionic Villus Sample (CVS) is the specimen type for this test. If sending cultured flasks, 2x T25 confluent flasks are required. Maternal samples are required 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

CVS samples 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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