Trisomy FISH screen (13,18,21,X,Y), Chorionic Villus Sampling

Test Information

Trisomy Screen FISH analysis is a cytogenetic test used to identify aneuplodies involving chromosomes 13, 18, 21, X, and Y.

Turnaround Time

4 days

CPT Code(s)

88235, 88275 x2, 88271 x4, 88291

Cost

$1372

Indications

The trisomy screen can be used as a rapid initial screen for some of the more common aneuploidies. FISH should be used in conjunction with G-banded chromosome analysis.

Methodology

FISH: Fluorescence in situ hybridization is a molecular cytogenetic technique in which fluorescently labeled DNA probes are hybridized to metaphase spreads or interphase nuclei.

Specimen Requirements

FISH can be performed on any tissue that can be cultured for chromosome analysis, including blood, fibroblasts, amniotic fluid, and chorionic villus sampling. Follow collection and transport guidelines specific for each tissue type. Studies requested should be indicated at the time of sample submission.

Transport Instructions

CVS: Specimen 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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