The presence of mutations in the CFTR gene, is linked to the appearance of male infertility. Thus, corresponds to the second most usual of sterility in men, then of the produced by microdeletions in the y chromosome.

This anomaly is the main responsible for the development of Cystic Fibrosis. The channel carrier of chlorine, encoded by the CFTR gene, has a key role in the formation of the vas deferens of the testicles, growth of the embryo.

A decline in the activity of this protein may carry with it the aplasia of the vas deferens, even when the symptoms of Cystic Fibrosis may not be present.
This test takes about three weeks, and requires samples of blood, epithelial cells, or sperm. The results will show the presence or absence of the mutation analyzed.

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