Genetic testing is a series of blood tests. The advancements in molecular biology and genetics offer the possibility of examining the genes involved in sperm production and identifying any possible genetic disorders.

What is genetic testing?

Genetic testing is a series of blood tests that detect the genetic causes that lead to complete absence of sperm (azoospermia) or to a significant reduction in the number, motility and morphology of sperm (oligospermia, asthenospermia and teratospermia). These may be caused by inherited chromosome disorders or damage to the genetic material after birth.

The main genetic tests are listed below:

Karyotyping: It depicts all the chromosomes of the man, and identifies abnormalities in the number and structure of chromosomes (deletions, duplications, mutations and translocations of genes).

Cystic fibrosis: A condition whereby the man inherits a faulty gene from both parents. In this case, he may develop agenesis of his sperm ducts, meaning that the testicles produce semen as per normal, but it cannot be ejaculated.

AZF microdeletions: This is a series of mutations that are located in the Y chromosome and relate to sperm production. The presence of these mutations is linked to azoospermia or oligospermia.

DNA fragmentation test: This test checks for possible damage to the sperm DNA, which may be due to the presence of free radicals, such as in the case of varicocele, testicular tumors, chemotherapy performed for other reasons, etc.