Test Directory

This test identifies Y microdeletions associated with male infertility to support diagnosis and determine genetic basis of laboratory findings. It may provide information about prognosis. Deletions of all or part of three azoospermia factor chromosome regions located on the Y chromosome (Yq11.23), designated AZFa, AZFb, and AZFc, are detected in approximately 5% of individuals with clinical symptoms ranging from azoospermia to oligospermia. AZFa deletions are usually associated with Sertoli cell-only syndrome and azoospermia. AZFb or AZFb+c deletions are usually associated with severe azoospermia. AZFc deletions may be associated with oligospermia, Sertoli cell-only syndrome and azoospermia. In vitro fertilization using intracytoplasmic sperm injection may be successful in individuals with AZFc deletions. AZFc deletions may be passed down to offspring conceived by intracytoplasmic sperm injection.

Testing is for male patients only. Do not collect for female patients.

Blood

1. Collect a lavender top (EDTA) tube via venipuncture.

Saliva

1. See Oragene Dx 500 saliva kit for detailed instructions.

Buccal Swab

1. See LabCorp Buccal Swab kit for detailed instructions.

Blood

1. Transport 5 mL of whole blood in the original collection container.

Saliva

1. See Oragene Dx 500 saliva kit for detailed instructions.

Buccal Swab

1. See LabCorp Buccal Swab kit for detailed instructions.

Do not eat, drink, smoke, or chew gum 30 min prior to saliva sample collection. See Oragene Dx 500 saliva kit for detailed instructions.

Transport to the laboratory refrigerated. 

• Frozen specimen
• Hemolysis
• Quantity not sufficient for analysis
• Improper container
• Specimen age outside of stability window

 See patient report.

False positive or negative results may occur for reasons that include genetic variants, blood transfusions, bone marrow transplantation or erroneous representation of family relationships.