Trisomy FISH Screen (13,18,21,X,Y) (Blood)

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)

88230, 88275 x2, 88271 x4, 88291

Cost

$1074

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 specimen that can be cultured for chromosome analysis. This includes blood in a green top (sodium heparin) tube, amniotic fluid, and chorionic villus sampling (CVS). Follow collection and transport guidelines specific for each tissue type. Studies requested should be indicated at the time of sample submission. Prenatal testing will be considered on a case-by-case basis as the lab would like to ensure there is an appropriate indication before accepting a prenatal specimen for testing. Appropriate indications include abnormal ultrasound findings, abnormal NIPT result, and/or family history with a known/identified genetic etiology. Contact the laboratory prior to sending a prenatal specimen to discuss your case with a lab genetic counselor.

Transport Instructions

Will vary depending on sample type: Blood: 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. Amniotic Fluid and 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

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