What is a genetic test?

A genetic test is a blood test that looks at a person’s DNA, or genetic information. Some types of genetic tests look at the number and “setup” of a person’s chromosomes, while other types look for changes (mutations) in certain parts of the person’s genetic code.

Chromosomes are tiny structures that contain the DNA that regulates the way the human body grows and functions. Chromosomes are normally found in pairs. Usually, there are 46 chromosomes per cell: 22 pairs of “somatic” chromosomes and one pair of sex chromosomes. The sex chromosomes are the genetic material that determines if a human is a man or a woman. In most cases, women have two X chromosomes, and men have one X and one Y chromosome.

It is important to know that most genetic tests do not examine all of a person’s genetic material. There are different ways to examine genetic material. Your healthcare provider can explain the type of genetic test that is being considered for you, and why.

Who should undergo genetic testing for male factor infertility?

“Male factor infertility” is the name for any condition in the man that may be a reason why a couple cannot have a baby. A male factor is found in half of all couples seeking treatment for infertility.

A large number of couples have male factor infertility. Unfortunately, the overall chances of actually finding a genetic cause for male factor infertility are very low. Certain conditions, however, can increase these chances. Your fertility specialist may recommend genetic testing if you have one or more of the following conditions:

  • Very low sperm count, or no sperm seen in the semen
  • Physical features that suggest a genetic cause (for example, small testicle size, or if the doctor cannot feel the sperm tube called the vas deferens)
  • Several miscarriages (unexpected end of a pregnancy)

Last reviewed by a Cleveland Clinic medical professional on 05/01/2013.


  • American Society for Reproductive Medicine. Intrauterine Insemination. Accessed 4/30/2013.
  • Stahl PJ, Masson P, Mielnik A, et al. A decade of experience emphasizes that testing for Y microdeletions is essential in American men with azoospermia and severe oligospermia. Fertil Steril 2010; 94: 1753-1756.
  • Denschlag D, Tempfer C, Kunze M, et al. Assisted reproductive techniques in patients with Klinefelter syndrome: a critical review. Fertil Steril 2004; 82: 775-779.

Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy