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Genomed – Y Chromosome Microdeletion Detection Kit

Microdeletions of the Y chromosome are the second most frequent genetic cause of spermatogenetic failure in infertile men after the Klinefelter syndrome (47, XXY). The molecular diagnosis of Y chromosomal microdeletions is routinely performed in the workup of male infertility in men with azoospermia or severe oligozoospermia.

The portion of the male-specific region of the Y chromosome (MSY), comprising 95% of the Y chromosome and flanked by pseudoautosomal regions which is affected by deletions, has been classically subdivided into four regions called AZFa, AZFb, AZFc and proximal AZFc (AZFd), respectively.


  • Contains all necessary reagents for the amplification of human genomic DNA
  • Relative quantification between Chr.X and Chr.Y (AMXY marker) allows the pre-assessment of possible Klinefelter syndrome
  • A human male DNA used as external control to check DNA integrity and PCR inhibitors as well as performance of reagents in the kit
  • Precise and quick detection for all STSs in the same plot screen
  • Coverage of the maximum number of possible Y chromosome microdeletions
  • Contains all 6 markers determined by European Molecular Genetics Quality Network guidelines
  • SRY is a control marker for the testis determining factor on the short arm of the  chromosome and allows XX males arising from Y to X translocations to be detected.

Product Overview

This system consists of 14 primer pairs that are homologous to previously identified and mapped sequence-tagged sites (STSs). Y chromosome deletions in the regions that are amplified by these primer sets have been associated with male infertility. This system uses a five-dye fluorescent system for automated DNA fragment analysis, which allows multiplex amplification and electrophoresis of over 14 STSs which include AMXY marker (Chr.X: 104bp, Chr.Y: 109bp; Xp22.1, Yp11.2) simultaneously. The kit is intended for use on Applied Biosystems ABI PRISM® genetic analyzers.

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