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A single workflow solution for the molecular diagnosis of Male Factor Infertility
• Y-chromosome microdeletion analysis
• Extension analysis of microdeletions
• Sex chromosome aneuploidy analysis
• Investigation of Cystic Fibrosis related CBAVD


Male Factor Infertility
Identifying the genetic causes of male infertility can result in more effective clinical management of patients. Statistically, 10-15% of couples experience difficulty in conceiving, with male related factors e.g. low sperm count, thought to be an underlying issue in approximately 50% of cases. Although in the majority of incidences the causes of male infertility are unknown, studies have shown that sex chromosome aneuploidy and microdeletions of specific regions of the Y-chromosome can play a role.

Klinefelter syndrome is the most common sex chromosome aneuploidy associated with male infertility. This syndrome has a live birth incidence of between 1:500 and 1:650 males with the most common cause being an additional copy of the X chromosome (47, XXY karyotype).

Y-chromosome microdeletions are the next most common genetic cause of male infertility, with microdeletions occurring in three regions (AZFa, AZFb, AZFc) detected in up to 7% of oligospermia (low sperm count) and 13% of nonobstructive azoospermia cases. These microdeletions occur due to homologous recombination of repetitive sequences in these regions and the exact molecular mechanisms and recombination events underlying these changes have been elucidated. These regions are located at chromosome Yq11 and although the AZFa microdeletion region is distinct, there is a significant degree of overlap between the regions affected by AZFb and AZFc microdeletion.

Recommended analytic steps for Y-chromosome microdeletions
The European Academy of Andrology (EAA) and European Molecular Genetics Quality Network (EMQN) have published a series of best practice guidelines for Y-chromosome microdeletion testing. In 2013, these guidelines were amended to include extension analysis which provided further characterisation and sizing of detected AZF region microdeletions using a separate defined set of markers.

diagnostic steps for Y-chromosome<br>    microdeletion analysis (Krausz et al., 2014).

Figure 1: Summary of flowchart showing recommended diagnostic steps for Y-chromosome
microdeletion analysis (Krausz et al., 2014).


Male Factor Infertility Kit
The Male Factor Infertility Kit detects both sex chromosome aneuploidy and Y-chromosome
microdeletions in a single tube using QF-PCR (Quantitative Fluorescence-Polymerase Chain Reaction) technique and employing a CE Genetic Analyzer platform. The Male Factor Infertility Kit uses EAA/ EMQN prescribed markers and primers to detect Y-chromosome microdeletions affecting the AZFa, AZFb and AZFc regions in accordance with best practice guidelines.

Single tube assay:

  • AMEL, TAF9 and X and Y specific markersfor sex chromosome aneuploidy
  • Y-chromosome microdeletion markers
  • Quantitative analysis on CE Genetic Analyzer

MFI-Yplus Kit
The MFI-Yplus Kit is a single tube extension assay used in conjunction with the Male Factor Infertility Kit which contains 11 additional markers for characterisation of Y-chromosome microdeletions in line with published guidelines. The Elucigene MFI-Yplus Kit runs on the same CE Genetic Analyzer platform as the Male Factor Infertility Kit using the same running conditions.

The CF-EU2v1 provides a convenient simple solution for male infertility screening for congenital unilateral absence of vas deferens (CUAVD) and congenital bilateral absence of vas deferens (CBAVD) as part of a Male Factor Infertility screening workflow. For more information please visit the Cystic Fibrosis page.

Ordering Information

Kit NameDescriptionPlatformCatalogue Code

Male Factor Infertility Kit

Simultaneous detection of Y chromosome microdeletions (AZFabc regions) and sex chromosome aneuploidies.

Genetic Analyser



Extension assay to Male Factor Infertility, providing additional mapping of AZFabc region deletions.

Genetic Analyser


QST*R-PL Pregnancy Loss

Detects trisomies of chromosome 13, 15, 16, 18, 21, 22, X and Y.

Genetic Analyser



Elucigene kits are developed and manufactured within quality systems accredited to ISO9001:2008 and ISO13485:2003 and are validated as in vitro diagnostic devices in compliance with the European Community Directive 98/79/EC and the Canadian Medical Device Regulations (CMDR). Elucigene is a trademark of Delta Diagnostics (UK) Ltd. ARMS is a trademark of AstraZeneca UK Ltd. GeneMarker® is a trademark of SoftGenetics Corporation. GeneMapper™ is a trademark Thermo Fisher Scientific. VIC, PET and NED are trademarks of Life Technologies Corporation.

Licensee Kits: This product is sold pursuant to an agreement with Life Technologies Corporation. The purchase of this product conveys to the buyer the non-transferable right to use only the purchased amount of the product and its components only for human in vitro diagnostics, solely for the clinical indication described in the accompanying instructions for use. For information on obtaining rights to use this product or its components, please contact This email address is being protected from spambots. You need JavaScript enabled to view it..