Karyotype testing is often performed as part of infertility treatment. It is a cytogenetic test, i.e. one that allows checking the set of chromosomes in a cell. Karyotype analysis is used to look for abnormalities in the shape and number of autosomal chromosomes (22 pairs of chromosomes) and sex chromosomes (XX or XY pair). The test is recommended especially in the case of recurrent pregnancy loss, ART failures, and suspected genetic disorders.
CFTR mutation testing. Mutations in the CFTR gene are mainly responsible for the development of cystic fibrosis – a disease that causes overproduction of mucus. It is a multisystem disorder, which may also be associated with infertility in men. Azoospermia is an indication for CFTR.
Mutations or deletions in the AZF region of the Y chromosome may also lead to sperm production disorders. The AZF (azoospermia factor) test is indicated in patients diagnosed with azoospermia or oligozoospermia.
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