Y Chromosome Microdeletion Detection Kit

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Y Chromosome Microdeletion

Microdeletions of the Y chromosome are the second most frequent genetic cause of spermatogenetic failure in infertile men after the Klinefelter syndrome. Microdeletions occur in about one in 4000 men in the general population but its frequency is significantly increased among infertile men.
The molecular diagnosis of Y-chromosomal microdeletions is recommended in the workup of male infertility in men with azoospermia or severe oligozoospermia. Azoospermic men have a higher incidence of microdeletions than oligozoospermic men.
The following recurrent microdeletions in the azoospermia factors (AZF) of the Y chromosome are clinically relevant and are found in men with severe oligo-or azoospermia
  • AZFa,
  • AZFb (P5/proximal P1),
  • AZFbc (P5/distal P1 or P4/distal P1)
  • AZFc (b2/b4)

Deletions in these regions remove one or more of the candidate genes (DAZ, RBMY, SP9Y, and DBY) and cause severe testiculopathy leading to male infertility. The most frequent deletion type is the AZFc region deletion (~80%) followed by AZFa (0.5–4%), AZFb (1–5%) and AZFbc (1–3%) deletion. Deletions which are detected as AZFabc are most likely related to abnormal karyotype such as 46, XX male or iso(Y).

Detection of microdeletions is performed by polymerase chain reaction (PCR) amplification of selected regions of the Y chromosome. At least two STS loci in each AZF region should be analysed for molecular screening. However, in light of novel data on genotype–phenotype correlations, the extension analysis for the AZFa and AZFb deletions is now routinely recommended.

Kit Features

  • Easy flow with ready to use solutions for Direct to Customer
  • One step real time PCR with high performance
  • Inclusion of Positive and Negative controls
  • Inclusion of Reagents for endogenous control amplification as a quality check for extraction and PCR
  • Rapid protocol with a high-throughput; Results of 96 samples is obtained within 80 minutes after start of run

Kit Details

Mylab Discovery Solutions provides Y Chromosome Microdeletion Screening kit which allows two multiplex PCR reactions designed for the analysis of two STR markers in each AZF deletion regions along with internal quality control markers on the Y chromosome and confirmed by agarose gel analysis.
Further Y Chromososme Microdeletion Extension Analysis kit
determines extension of deletion in the AZF regions by screening of additional STR markers by PCR.

According to EAA/EMQN guidelines, before reporting of microdeletions, it is mandatory to perform extension analysis with the second choice markers after basic screening test.

Kit Contents

  • Reagents required for isolation of DNA
  • Reagents required for PCR
  • Plastic wares for extraction and PCR Tests

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Order Information

# Product Cat. No. Reaction size/kit
1 Y chromosome Microdeletion Screening Kit DYMS25 25
2 Y chromosome Microdeletion Screening Kit DYMS50 50
3 Y chromosome Microdeletion Extention analysis Kit DYEA25 25
4 Y chromosome Microdeletion Extention analysis Kit DYEA50 50
5 Y chromosome Microdeletion Extention analysis Kit DYEA100 100
6 Y chromosome Microdeletion Detection Kit (Screening and Extension both) DYMD25 25
7 Y chromosome Microdeletion Detection Kit (Screening and Extension both) DYMD50 50