Detection of structural and numerical aberrations of sex chromosomes in infertile men

This analysis enables simultaneous determination of numerical aberrations of sex chromosomes and structural aberrations of the three loci on Y chromosome (AZFa, AZFb, AZFc), the most common sites of Y chromosome microdeletions. Studies revealed that aneuploidy of the sex chromosomes and microdeletions of AZFa, AZFb, AZFc regions of the Y chromosome can be associated with male infertility. The method employed for this analysis is the QF-PCR (Quantitative Fluorescence-Polymerase Chain Reaction) technique on DNA sample extracted from a patient's peripheral blood.

For genetic testing, it is necessary to deliver 4-5 ml of peripheral blood with 3.8% sodium citrate as anticoagulant in ratio 9:1.

If the patient received a blood transfusion during the last month, it is not possible to perform this analysis using peripheral blood.

The samples are accepted only with prior scheduling. The price depends on how many samples are included in the analysis simultaneously.


Danijela Drakulic, PhD

Laboratory for Human Molecular Genetics

tel. +381 11 3976 212

fax. +381 11 3975 808


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