Molecular Genetic Testing
Y chromosomal microdeletion (infertility testing)

Indication and Diagnostic Value

There are several genes located on the euchromatic region of the long arm of the Y chromosome, which play an essential role in spermatogenesis. In fact, about 7% of all infertile men carry deletions in the “azoospermia factor region (AZF)”. Particularly men with sperm concentration < 5x106/ml show this type of gene deletions and can be diagnosed by a genetic test.

Samples and Test Method

IMMD blood stain test paper is required. The test comprises a combination of Multiplex PCR with primers encompassing the region q11 of AZF (AZFa, AZFb, AZFc) and gel electrophoretic analysis. According to the european guidelines (, the test sensitivity amounts to >90%.

Turnaround time for this test is 2 weeks.

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