Disorders of Sexual Development: FISH Panel, Routine (includes SRY/Xcen & X/Y dual assay probes)

Key Information

TAT:

28 days

Price:

$896

CPT Code(s):

88230, 88275, 88271x3, 88291

Test Code:

CXYA

Disorders of Sexual Development: FISH Panel, Routine (includes SRY/Xcen & X/Y dual assay probes)

FISH analysis for Disorders of Sexual Development is a cytogenetic test used to identify deletions or duplications in the centromeric regions of the X and Y chromosomes as well as SRY. This test is intended for patients with ambiguous genitalia or suspected sex reversal, and it can detect varying degrees of mosaicism.

Please note the standard turnaround time is 28 days, but is reduced to 4 days for infants.

Technical Information

Fluorescence in situ hybridization is a molecular cytogenetic technique in which fluorescently labeled DNA probes are hybridized to metaphase spreads or interphase nuclei. Applications include identification of structurally abnormal chromosomes, including identification of marker chromosomes, detection of very small deletions (microdeletions), and rapid detection of Down syndrome and other numerical chromosome abnormalities; and the rapid detection of sex chromosomes and the SRY gene.

FISH should be used in conjunction with G-banded chromosome analysis. FISH is performed upon request when a specific numerical or structural abnormality or microdeletion is suspected. FISH is also utilized to confirm microdeletions identified during high resolution chromosome analysis and to aid in identification of abnormal chromosomes.

Specimen Requirements

The accepted sample type is 3-4 ml of whole blood collected in a sodium heparin (green top) tube. For newborns and small infants, 2-3 ml of blood in a sodium heparin tube is acceptable. Blood kits are available by request.

Transport Instructions

Whole blood should be kept at room temperature and sent by courier or overnight shipping to arrive at the laboratory the next day. Do not freeze or refrigerate the specimen.

Connect With Our Experts

Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.

Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC