Disorders of Sexual Development: FISH Panel, Rule Out Mosaic (Buccal) (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.

Turnaround Time

28 days

CPT Code(s)

88275 x 2, 88271 x 3, 88291

Cost

$884

• Ambiguous Genetalia

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.

FISH analysis on buccal samples requires a kit provided by the Greenwood Genetic Center. Buccal cells are collected by brush and smeared onto a microscope slide using included instructions. Saliva is not accepted for this test.

Return the labeled slides in the provided packaging via USPS or other transport service at room temperature.