CHROMOSOME Y MICRODELETION
Why get tested?
Il test è indicato nella diagnostica dell’infertilità maschile e nei percorsi di Procreazione Medicalmente Assistita (PMA). Le microdelezioni del cromosoma Y rappresentano la seconda causa genetica più frequente di infertilità maschile (con un’incidenza di 1 su 4.000 maschi nella popolazione generale).
What test see?
The test examines the three key regions of the Y chromosome (AZFa, AZFb, and AZFc) involved in spermatogenesis by analyzing the STS markers recommended by international guidelines.
What deletions cause
Microdeletions in the AZF regions impair sperm production, leading to azoospermia (complete absence) or severe oligozoospermia. Identifying these deletions is essential for defining the clinical picture, guiding assisted reproductive technology (ART) procedures, and assessing the possibility of retrieving sperm from the testicles.
How is the test administered on?
The test involves drawing a blood sample from which genomic DNA is extracted. The screening for microdeletions on the Y chromosome is performed using PCR amplification and fragment analysis.
Turnaround Times
Results in 18 working days.
Sensitivity and specificity
Analytical sensitivity and specificity > 99%.