Analysis ID 14
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness AZF
OMIM #415000
Clinical information Microdeletion of the Y chromosome is a relatively common spermatogenesis disorders within the infertile men. Pathogenic changes affect the MSY region (male-specific region of the Y chromosome), which carries the genes responsible for sex determination (SRY). This area contains 3 regions: AZFa, AZFb, and AZFc. Most of the deletions involve AZFa region (80%), but clinical manifestation may vary depending on the size and location of the deletion.
Type of analysis Molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes AZF
Analysis description Analysis of short tandem sequences of Y chromosome. Analysis of the presence of specific STS markers (AZFa, AZFb, AZFc) confers information on possible mutation and its size (according to European Molecular Genetics Quality Network i European Academy of Andrology). Analysis is performed using multiplex PCR strategy.
Analysis indication Analysis is recommended in case of male infertility. Diagnostics has prognostic value and may affect the therapy.
Analysis time 1-2 weeks
Refund No
CGM laboratory name Laboratory for molecular genetics