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FISH ANALYSIS, SRY/X CENTROMERE
Chromosomal Locus: Yp11.3
Pseudonyms: Sex Determining Region of Y, Yp deletion, SRY gene deletion
TURNAROUND TIME: 7 to 10 days
TESTING METHODOLOGY: Fluorescence in situ hybridization
SPECIMEN REQUIREMENTS:
- Collect: 3-5 mL peripheral blood in sodium heparin (green) for children and adults; 1-2 mL peripheral blood in sodium heparin (green) for newborns
- Min. Collection: 1 mL for newborns; 2 mL for children and adults
- Transport: peripheral blood in sodium heparin (green) at 20-25°C
- Stability: Ambient: 24 hours; Refrigerated: 72 hours; Frozen: unacceptable
- Unacceptable Conditions: Frozen or clotted specimens; specimens in anticoagulants other than sodium heparin
A Cytogenetics Laboratory Test Requisition must accompany the specimen. Contact the Cytogenetics Laboratory at 918-502-1722 to obtain further information.
INTERPRETIVE DATA:
Test Summary: Test can detect deletion or duplication of the SRY gene on the Y chromosome.
Related Tests: Chromosome Analysis, Routine, Chromosome Analysis, Blood, High Resolution, FISH - X and Y Chromosomes
Methods: A dual-color FISH analysis performed on metaphase cells using a probe for the SRY gene in Yp11.3 and a probe for the X chromosome centromere (control) ; analysis of 10 metaphase cells and 20 interphase cells
Indications for Use:
- Patients suspected of having an abnormality resulting from deletion or translocation of the SRY gene such as males with primary infertility, XY females and individuals with ambiguous genitalia
- Patients with an abnormal Y chromosome by standard chromosome analysis
- Patients with a marker chromosome suspected to be derived from the Y chromosome by standard chromosome analysis.