Men with absent (azoospermia) or low sperm concentration (severe oligozoospermia), could have an underlying genetic cause. To test for this, a saliva or blood sample is taken.
What it diagnoses:
There are multiple genetic factors that may cause male factor infertility. In the case of absent or low sperm count (fewer than five million sperm per mL) in a semen analysis, the doctor may analyze the chromosomes (tightly packed DNA) to determine if there are any anomalies. They will look for things like changes in the amount or structure of the chromosomes.
Better Understanding of Your Genetics:
Some abnormalities include extra chromosomes, extra parts of chromosomes, parts of chromosome in the wrong places (translocation or inversion), or missing parts of the Y-chromosome, which can cause problems with sperm production.
When it’s recommended:
Genetic testing may be recommended if one has a very low sperm count, no sperm in semen or physical defects such as small testicles, or if one has experienced multiple miscarriages.
Preparing for your Appointment:
Prior to genetic testing, one should meet with a genetic counselor to discuss the prognosis, testing options and psychological consequences of genetic findings.