Condition Description

Genes (0)

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

Listed below are EGL's preferred sample criteria. For any questions, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (eglgc@egl-eurofins.com).
Submit only 1 of the following specimen types
DNA, Isolated
DNA

Requirements
Microtainer
3µg
Isolation using the Perkin Elmer™Chemagen™ Chemagen™ Automated Extraction method or Qiagen™ Puregene kit for DNA extraction is recommended.
Collection and Shipping
Refrigerate until time of shipment in 100 ng/µL in TE buffer. Ship sample at room temperature with overnight delivery.
Whole Blood (EDTA)
WBP

Requirements
EDTA (Purple Top)
Infants and Young Children (<2 years of age): 2-3 ml
Children > 2 years of age to 10 years old: 3-5 ml
Older Children & Adults: 5-10 ml
Autopsy: 2-3 ml unclotted cord or cardiac blood
Collection and Shipping
Ship sample at room temperature for receipt at EGL within 72 hours of collection. Do not freeze.

How to Order

Requisition Forms