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).

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]