Y Chromosome Deletion Testing for Male Infertility

Five – 10 percent of males with unexplained fertility associated with azoospermia or oligozoospermia and/or abnormality of sperm morphology or motility have a chromosome abnormality. Microdeletions in the long arm of Y can be detected in another five – 10 percent of these males. Using a panel of twenty microsatellite loci spanning the regions on chromosome Yq that have been associated with male infertility, each sample is analyzed by polymerase chain reaction (PCR) for the presence of a deletion.

Indications for Testing

  • Male infertility
  • Azoospermia or oligozoospermia
  • Abnormality of sperm morphology
  • Abnormality of sperm motility

Sample Requirements

3 – 4 mL whole blood in purple top EDTA tube

Sample Handling

Blood samples stored overnight should be refrigerated or kept cold. Blood samples should never be frozen. Specimens being sent from outside facilities should be packaged with a cold pack according to standard medical safety practices. The specimen should be shipped by overnight priority [scheduled to arrive by Friday morning at the latest].

Shipping Address

Center for Human Genetics Laboratory
10524 Euclid Avenue, Sixth Floor
Cleveland, OH 44106

For local samples, please call Client Service (216-844-5227) to arrange for sample pick-up.

Turnaround Time

Three to nine days

CPT Code


Please submit a completed Molecular Requisition for each sample.