SRY (Sex determining Region on Y), Yp11.3, FISH, for Genetic Diagnosis

WSLH Department: Cytogenetics
WSLH Test Code: 871F34
Availability: Monday-Friday 7:45 AM - 4:30 PM, Saturday 7:45 AM - 12:00 PM
Turn-around Time: Approximately 5-14 days, with an average of 5 days. (Reports are issued Monday-Friday 7:45 AM - 4:30 PM)
Recommended Uses: Detection of the SRY gene in individuals with ambiguous genitalia or suspected sex chromosome aneuploidy disorder. May be performed in conjunction with other FISH assays, chromosome analysis or as an independent test.
Additional Tests Performed:
Patient Preparations:
Specimen Requirements: 1-2 ml whole blood collected in sodium heparin vacuum type tube
Specimen Handling & Transport: Store and transport specimens at room temperature (may transport with coolant during hot weather, >85 degrees F). DO NOT FREEZE. The laboratory must receive specimens within 24 hours of collection.
Collection Kit/Container:
Collection Instructions: Draw blood using aseptic techniques into a sterile sodium heparin vacuum type tube. Invert tube to mix. If using larger tubes, draw to full volume to avoid over-treatment with heparin.
Unacceptable Conditions: Blood that is collected in EDTA, sodium citrate, or other anti-coagulants is not acceptable. Blood that is clotted or hemolyzed is not acceptable. Blood must not be frozen. Plasma and serum are not acceptable.
Requisition Form: Cytogenetics Lab Genetic Diagnosis Form #131
Required Information: Laboratory regulations require the following minimum information to be provided on the requisition form for a specimen to be accepted for testing: Patient name or unique identifier; date and time of collection, patient date of birth and sex, specimen type/site of collection, test request(s), reason for referral, clinician name and UPIN/NPI, and address for reporting results. Please be certain that name/identifier on the form matches that on the specimen label.
Results Include: SRY present/absent, number of metaphase cells examined, number of cells with signal, number of cells without signal. Result written using current International System for Human Cytogenetic Nomenclature (ISCN) and interpretation of results.
Limitations: Failure to identify an abnormal clone by FISH does not rule out the presence of other abnormalities in the specimen.
Additional Tests Recommended: Blood chromosome analysis is recommended to look for other causes of the abnormal phenotype. The FISH analysis may be performed as an independent test if chromosome analysis was performed previously.
Additional Comments: If FISH assay is not performed in conjunction with chromosome analysis there is an additional charge for processing the specimen.
Methodology: Fluorescence in situ hybridization performed on metaphase cells using DNA probes (LSI SRY; Vysis, Inc) specific for Sex-determining Region Y (SRY), simultaneously with a probe for the centromere of chromosome X (CEP X) as a control.
Includes: FISH analysis of 10 metaphase cells for presence or absence of the SRY gene in Yp11.3
CPT Code: 88271, 88273
Price: For pricing information, please call 608-262-0402.
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