Y-chromosomal Microdeletion
Microdeletion of the Y chromosome is the second most frequent genetic cause of spermatogenetic failure in infertile men, with the Klinefelter syndrome rank the highest.
Since 1999, the European Academy of Andrology (EAA) and the European Molecular Genetics Quality Network (EMQN) have jointly supported the publication of three 'Laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions' and started offering external quality assessment (EQA). The molecular diagnosis of Y-chromosomal microdeletions has been routinely performed for sterile males with azoospermia or severe oligozoospermia.
Features
■ Accurate:
Detect 16 loci at one time, containing all EAA/EMQN recommended locus.
■ Comprehensive：
Not only detect the completely deletion of AZFa/b/c, but also detect the partial deletion/replication of AZFb/c and sex chromosome aneuploidy.
■ Easy-to-use:
Direct PCR amplification with blood card or EDTA-anticoagulated whole blood in a single tube, applicable for automatic and batched detection.
■ Fast:
Get results within 3 hours, with manual operation time less than 20 minutes.
Workflow
Loci detected
Application
Men with azoospermia or severe oligozoospermia
Sample types
Peripheral blood, blood stain
Results
Instrument
Gene analyzer (ABI PRISM 310, 3100 Genetic Analyzer, or ABI 3130 Series, 3500 Series, 3730 Series Genetic Analyzer)
※Reference :
1. Int J Androl. 2004 Aug;27(4):240-9.
2. Andrology. 2014 Jan;2(1):5-19.
※ For research use only