CHROMOSOME Y MICRODELETION
Why get tested?
The test is indicated in the diagnosis of the infertile subject and as part of a medically assisted procreation process. Y-chromosome microdeletions are the second most frequent genetic cause of male infertility after Klinefelter syndrome. Such microdeletions occur in approximately 1 in 4,000 males in the general population.
What the test detects
The test investigates the portion of the region on the Y chromosome (MSY) where the deletions map, which may indicate an increased risk for spermatogenesis failure.
What deletions cause
Y-chromosome microdeletions may have clinically relevant significance in subjects presenting with azoospermia (complete absence of sperm in semen) or oligospermia (lower than average sperm content in semen).
Specifically, the test is able to detect:
AZFa deletion: complete deletion is associated with SCOS (Sertoli cell only syndrome) and azoospermia, while partial deletion has a milder phenotypic expression.
AZFb deletion: Complete deletion is associated with SCOS and arrest of spermatogenesis.
Complete deletion AZFc b2 / b4: complete deletion is associated with variable clinical and histological phenotypes and is compatible with residual spermatogenesis, therefore it can also be found in males with severe oligozoospermia.
Terminal complete AZFc deletion: deletion often associated with 46, XY / 45, X mosaicism. The presence of cell lines 45, X is considered a negative prognostic factor for the presence of testicular spermatozoa.
Gr / gr deletion: partial deletion of the AZFc region considered as a risk factor for the failure of spermatogenesis.
Partial deletion AZFc b1 / b3 or b2 / b3: the influence of these alternative deletions on spermatogenesis is still controversial.
Complete AZFbc Deletion: Complete deletions of this region are associated with SCOS and arrest of spermatogenesis.
How testing works
The genetic test consists in the execution of a blood sampling, in the extraction of the genomic DNA and in the identification of the microdeletions of the AZF region in the Y chromosome using the CE-IVD Multiplex Oligo-azoospermia kit gr / gr kit 3-FL based on the technique Multiplex PCR and fragment separation by capillary electrophoresis on automatic sequencer.
Results in 15 working days.
Sensitivity and specificity
Analytical sensitivity and specificity > 99%.