Y-Chromosome: SRY Analysis

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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 and Reference Range

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): 2-3 ml
Children (>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 EGL) 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.

How to Order

Requisition Forms