Genetic Tests


Nearly ten percent of men of reproductive age in the United States have experienced infertility problems.

Since there are several possible reasons why infertility can occur, several steps are involved with attempting to pinpoint a likely reason for an inability to father a child. If common structural issues have been eliminated with image testing as a possible cause, genetic testing may be suggested. Such testing is also typically recommended when sperm counts are low.

Here’s a closer look at what’s involved with genetic testing, why it may be done, and what it may reveal.

What Is Genetic Testing?

A genetic test specifically for the purpose of evaluating male factors is a blood test that detects signs of genetic abnormalities affecting the Y chromosome that’s unique to men. It’s a test that evaluates long strands of deoxyribonucleic acid (DNA) to look at the set-up or structure of chromosomes. Normally, each cell has 23 pairs of chromosomes, for a total of 46 per cell. While mothers only pass along X chromosomes, males are able to pass along X and Y sex chromosomes. The main focus is on identifying any unusual genetic changes, or mutations. The amount of chromosomes along with their overall structure can be checked with a blood test called a karyotype.


Which Genetic Issues May Affect Male Fertility?

It’s rare that mutations within a single gene will be the cause infertility issues. There are a few exceptions. For instance, mutations in the cystic fibrosis gene can result in the absence of the vas deferens at birth, which would then cause a disruption in sperm flow. Fertility is usually affected by chromosomal conditions when genetic issues are the primary cause. Two of the more common issues of this nature are Klinefelter syndrome and Y chromosome deletions.

Why Consider Genetic Tests?

Genetic testing for male infertility may be ordered when other possible causes of infertility have been ruled out. Such testing is also worth considering in an effort to diagnose inherited syndromes like Down syndrome or various congenital abnormalities. Some gene modifications or changes to chromosomes affect sperm production or contribute to sperm flow blockages that may result in infertility problems.

It’s estimated that a male factor plays a role in approximately half of all fertility issues experienced by couples trying to conceive. Genetic testing may be recommended in situations where there is a need to rule out or identify possible male factors to determine where to focus efforts to treat infertility. Testing for possible male infertility factors may also be suggested when:

  • A man has an abnormally low sperm count
  • There are no sperm found in semen samples
  • Physical features such as smaller than normal testicles suggest a possible genetic issue may be involved
  • The vas deferens (“sperm tube”) cannot be felt during a physical exam
  • Couples have experienced several miscarriages

It’s entirely possible that genetic tests will not produce any conclusive results that identify a male factor. If this is the case, additional diagnostic efforts may be made. Such efforts may include evaluations for less common sources of infertility issues, such as Celiac disease, problems linked to previous surgeries in the pelvic area, or fertility issues linked to exposure of the testicles to consistently higher temperatures. Some men also see improvements after losing weight, cutting back on alcohol use, quitting smoking, changing medications, or reducing emotional stress.