Genetic testing has found its place in the investigation of male fertility during the recent years. A number of tests are necessary that will provide information for the DNA that is found in our somatic cells as well as the DNA that is in the spermatozoa. Defects in the number or structure of chromosomes or the quality of the sperm DNA affect greatly the ability of a couple to conceive. It has also a great impact on the outcome of all assisted reproduction techniques such as the Intrauterine Insemination or the In Vitro Fertilization.
Some of these tests are blood tests. These include:
- the karyotype, which checks whether the number and structure of chromosomes in the body’s cells are correct
- AZF, which tests for DNA microdeletions, specifically on the Y chromosome
- the presence of cystic fibrosis mutations
Some other tests are done on a sperm sample. These include:
- sperm DNA quality, with DNA fragmentation
- the number of chromosomes in the spermatozon with FISH (Fluorescence In Situ Hybridization).
FISH on sperm
Y chromosome microdeletions (AZF)