Rapid FISH Analysis - Sex Chromosome (X/SRY)

Casandra

Casandra Test Code BA49055Version 1 (DRAFT)

Performing Lab

Lab Baylor GeneticsLab Test ID 8426CPT Codes 88230, 88271, 88275, 88291

Rapid FISH Analysis - Sex Chromosome (X/SRY)

Clinical Use

Use

Rapid FISH Analysis for SRY-related phenotypes is designed to screen for SRY-related rearrangements that relate to disorders of sex development in postnatal blood samples. This test utilizes probes for both the X centromere and the SRY gene, aiming to detect whether the SRY gene is deleted or translocated to the X chromosome. The indications for this testing are crucial, particularly for patients exhibiting clinical findings indicative of disorders of sex development, such as ambiguous genitalia, cryptorchidism, or hypospadias. The detection of these rearrangements can guide further treatment and management decisions for affected individuals.

Special Instructions

This FISH test is required to be accompanied by either Chromosomal Microarray - High Resolution or Chromosome Analysis - Postnatal to ensure comprehensive analysis. Potential indications for testing include a range of prenatal or postnatal findings suggestive of disorders of sex development. Understand the underlying genetic implications for proper patient management and counseling. Ensure specimens are appropriately collected and shipped under specified conditions for optimal analysis.

Limitations

This FISH assay is limited to determining the gain or loss of the SRY gene and assessing aneuploidy involving the X and Y chromosomes. Importantly, a normal result from this FISH analysis does not rule out the presence of mosaicism relating to aneuploidy, structural rearrangements, or abnormalities in other chromosomes, and these factors must be considered during interpretation of results.

Test Details