Targeted Infertility Microarray

This test analyzes certain regions of the Y chromosome for deletions associated with male infertility.

Turnaround Time

26 days

CPT Code(s)

81405

Cost

$1,000

• Infertility

Y chromosome infertility is characterized by azoospermia or oligospermia and is caused by a hemizygous deletion of Yq involving the AZF (azoospermia factor) regions or a pathogenic variant in USP9Y. There are three defined AZF regions: AZFa, AZFb, and AZFc. This targeted infertility microarray can detect deletions in the AZF regions. Additionally, because this test is run on a genome-wide microarray, Klinefelter syndrome (another cause of male infertility) may also be detected. Other regions of the genome are not analyzed in the targeted infertility microarray.

5 to 7 ml of peripheral blood collected in an EDTA (lavender top) tube is the preferred specimen type. The minimal blood needed for reliable DNA isolation is 3 ml. Additional specimen types include: saliva and extracted DNA.

The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.