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The Kleberg Cytogenetics Laboratory offers a fluorescence in situ hybridization (FISH)-based assay for identifying microdeletions or translocations involving the SRY locus. Reasons for Referral:Individuals who have a 46,XX karyotype and are phenotypic males or individuals who have a 46,XY karyotype and are phenotypic females should be referred for FISH testing for SRY. FISH for SRY testing may also be appropriate in newborns with ambiguous genitalia. Testing Methodology:FISH is the application of fluorescently labeled DNA molecules to metaphase chromosomes and interphase nuclei for the detection of chromosome abnormalities and alterations. It is a rapid, reliable and direct approach for identifying patients with microdeletions or translocations involving the SRY locus. FISH analysis of SRY is performed on metaphase chromosomes. Probes for the X centromere and SRY are used simultaneously in order to determine if SRY is deleted or translocated to the X chromosome. Specimen Requirements:Whole blood in sodium heparin (green-top) tubes: Shipping and Handling:All tubes must be labeled with the patient's testname and date of birth, and a completed requisition form must accompany each sample. If the laboratory is billing the patient's insurance, please enclose a copy of the insurance card. Ship specimens for overnight delivery at ambient temperature. Please notify the laboratory of incoming samples. Turnaround Time:7-10 days CPT Codes and Prices:88230, 88271, 88273, 88291 Forms: >> Cytogenetics
Requisition Test Code:8480 |