Cytogenetic testing is recommended to identify numerical or structural chromosomal abnormalities associated with genetic disorders, infertility issues, or an increased likelihood of passing on chromosomal abnormalities to offspring. It is particularly indicated for the evaluation of couples during the preconception phase or as part of assisted reproductive technology (ART) treatments.

The test analyzes the number and structure of the 46 human chromosomes (23 pairs), identifying any numerical abnormalities (aneuploidies) and visible structural alterations (balanced or unbalanced).

Chromosomal abnormalities can affect fertility, lead to recurrent miscarriages, or cause syndromes and genetic disorders in offspring. Identifying a structural abnormality—even one that is balanced and asymptomatic in the parent—allows for the assessment of reproductive risk and helps guide family planning decisions.

The test involves a blood draw, from which cell cultures are prepared for subsequent microscopic analysis of metaphase chromosomes, in accordance with SIGU guidelines.

Results in 25 working days.

Microscopic analysis of the karyotype allows for the detection and identification of numerical and structural chromosomal abnormalities that are 10 Mb (megabases) or larger.