Genetic testing

Genetic testing is a series of tests intended to determine the genetic causes of azoospermia (complete absence of sperm) or significant reduction in sperm number and morphology (oligospermia, teratospermia).

These genetic causes may be inherited from the parents’ chromosomes or they may have resulted from DNA damage during a man’s life.

Genetic tests for men

Karyotype: Imaging of the chromosomal pairs to identity structural and/or numerical abnormalities.

Cystic fibrosis: Cystic fibrosis is a serious genetic disorder that results from a pathological allele inherited from the parents.  A person that is suffering or is a carrier of the disease may face fertility problems.

AZF microdeletions: These microdeletions are a series of mutations in the Y chromosome; they play a direct role in sperm production and are associated with azoospermia and oligospermia.

Sperm DNA fragmentation testing: This sperm test identifies the possibility of damage to the genetic material that is due to the increased presence of free radicals, such as in cases of varicocele, chemotherapy, etc.

The physician will recommend undergoing genetic testing in cases of severe infertility due to azoospermia or oligospermia. Furthermore, men should undergo genetic testing when there is family history of hypogonadotropic hypogonadism (dysfunction of the pituitary gland/ hypothalamus) or genetic diseases associated with infertility such as the Klinefelter and Prader Willi syndromes, etc.


Results of genetic testing

The results of the various genetic tests may vary. Consequently, it is necessary to evaluate the findings in conjunction with the man’s other diagnostic test results.