Male infertility and Y-chromosome microdeletions

Analysis of the Y chromosome in men with azoospermia or severe oligozoospermia has resulted in the identification of three regions in the euchromatic part of the long arm of the human Y chromosome (Yq11) that are frequently deleted in men with otherwise unexplained spermatogenic failure.

PCR analysis of microdeletions in the AZFa, AZFb and AZFc (AZF: Azoospermia Factor) regions of the human Y chromosome is an important screening tool in the work-up of infertile males opting for assisted reproductive techniques. Y chromosome microdeletions are the most common genetic cause of male infertility and screening for these microdeletions in azoospermic or severely oligospermic men is now standard practice in many infertility centers.

AZF deletion testing

Diagnostic testing using the Devyser AZF v2 kit kit relies on PCR amplification of sequence-tagged sites (STS) in the AZFa, AZFb and AZFc regions on the Y-chromosome. Successful amplification of an STS marker indicates presence, whereas absence of PCR amplification is indicative of deletion. Devyser’s unique single-tube approach simplifies the workflow, reduces hands-on time and minimises the risk of sample mix-up and contamination during both basic and extended AZF analysis.

Testing according to EAA and EMQN best practice guidelines

All STS markers and control sequences, recommended by the European Academy of Andrology (EAA) and the European Quality Monitoring Network Group (EMQN) for basic molecular diagnosis of Y-chromosomal microdeletions in the AZFa, AZFb and AZFc regions are included in the kit. If a suspected deletion is detected, extended AZF marker analysis should be made using the Devyser AZF Extension kit.

The use of fluorescently labelled primers for all markers allows automated visualization and identification of the STS markers using a Genetic Analyzer. Thus, eliminating multiple PCR reactions, use of toxic chemicals associated with the use of EtBr stained Agarose gels, and the guesswork associated with fragment identification

Testing Kits

Devyser AZF v2 – for basic deletion testing

Devyser AZF v2 allows detailed analysis of Y-chromosome microdeletions in the AZFa, AZFb and AZFc regions. Conforms to the EAA and EMQN best practice guidelines for basic molecular diagnosis of Y-chromosomal microdeletions

Devyser AZF Extension – for extended deletion analysis

Conduct extended molecular diagnosis of Y-chromosomal microdeletions in the AZF region using Devyser AZF Extension. Conforms to the EAA and EMQN best practice guidelines for extended molecular diagnosis of Y-chromosomal microdeletios