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).

Specimen Requirements


  • Anticoagulated blood: One 5-10 mL tube with EDTA (lavender top) or one 5-10 mL tube with ACD (yellow top)

Ordering Information


  • Ship at room temperature
  • Ship to:
    62 Southfield Ave, Stamford, CT 06902
    Phone: 800-298-6470 / Fax: 646-859-6870


Turnaround Time

  • 10-14 days



General Genetic Test Requisition
Carrier screening test requisition