Y Chromosome Deletion

Test Description:
Y microdeletion test is used for the detection of small interstitial deletions in the Y chromosome which have been associated with male infertility. Most frequently these deletions are observed in the euchromatic region of the long arm of the Y chromosome (Yq11). Studies have reported a microdeletion frequency of 8-20% in azoospermic and 5-10% in severely oligospermic males. The nine sites targeted in this test are areas previously found to be deleted in infertile men. This panel is estimated to detect more than 80% of the currently reported microdeletions. Eight non-contiguous sites within the long arm (Yq11) and one site in the short arm (Yp11) of the Y chromosome are tested by PCR amplification followed by gel electrophoresis. These nine sites are sequence tagged sites sY14 (SRY), sY86, sY87, sY134, sY143, RBM1, sY152, sY153 and sY255 (DAZ).

References:
1. Reijo et al., Nature Genetics 1995; 10:383-393.
2. Stuppia et al., Cytogenetic and Cell Genetics 1996; 72(2-3):155-158.
3. Vollrath et al., Science 1992; 258:52-59.

Specimen Requirements:
Two 5-10 ml tubes of anticoagulated blood. The preferred anticoagulant is EDTA (lavendar top tubes), ACD (yellow top) tubes are also accepted.

Shipping: Send at room temperature.

Turnaround Time: 10-14 days

CPT Codes: 83891, 83894, 83898x9, 83912

Consent Form: DNA Testing Consent [PDF]

Requisition Form: General Test Requisition [PDF]