Test Code: 3478

Y-Chromosome: SRY Analysis
Test Code: 3478
Turnaround time: 3 weeks

CONDITION DESCRIPTION

INDICATIONS

This test is performed on patients who require a very quick analysis to determine presence/absence of Y-chromosome material, such as infants born with ambiguous genitalia, X-linked disorders, or cases of tissue mosaicism. PCR-based analysis, with male and female controls, is utilized to determine the presence/absence of the Y-chromosome. Results include which regions of the Y-chromosome were analyzed and which regions were detected.

METHODOLOGY

PCR-based amplification for a portion of the SRY gene, uses primers specific for the centromere, DYZ3, and specific for the q arm, Y3.4. Male and female controls are used in combination to determine the presence/absence of the Y-chromosome. Results include which regions of the Y- chromosome were analyzed and which regions were detected or absent. Point mutations or rearrangements are not detected by this analysis.

DETECTION
Over 99% of Y-chromosomes will be detected by this assay.

REFERENCE RANGE
Qualitative assay.

SPECIMEN REQUIREMENTS

Submit only 1 of the following specimen types
* Preferred specimen type: Whole Blood

Type: Whole Blood
Specimen Requirements:
In EDTA (purple top) or ACD (yellow top) tube: Infants (2 years): 3-5 ml
Older Children & Adults: 5-10 ml

Specimen Collection and Shipping: Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery.

Type: Saliva
Specimen Requirements:
OrageneTM Saliva Collection kit (available through CEN4GEN) used according to manufacturer instructions.

Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.

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