Y Chromosome Deletion
Related Gene(s): SRY
The Y chromosome microdeletion test is used for the detection of small interstitial deletions in the Y chromosome that are 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).
- Anticoagulated blood: One 5-10 mL tube with EDTA (lavender top) or one 5-10 mL tube with ACD (yellow top)