Infertility Testing

The Right Diagnosis, the Right Decision

Infertility is a complex disease of the reproductive system characterized by the inability to achieve
pregnancy after more than 12 months of regular, unprotected sexual intercourse. It affects nearly 15% of all couples wishing to conceive and is generally attributed to males and females equally. A healthy young couple in their mid-twenties has only a 20–25% chance of achieving pregnancy in each cycle; a range of factors, each with different extents of genetic control, may influence their chances. Infertility can be hormonal, related to age, exercise, obesity or infectious disease; it can be immunological, psychological, result from surgery or blockage, or be associated with defined abnormalities in the gametes.

Roughly 10% of infertility cases have a genetic etiology. Some patients have a combination of symptoms that does not allow for the hypotheses to be narrowed down to one particular underlying genetic cause. Performing numerous physical tests is costly and time consuming. Most importantly, delayed diagnosis and treatment have a dramatic impact on a patient’s quality of life.

To resolve this challenge, CENTOGENE offers three different infertility genetic panels based on comprehensive scientific literature research and our own medical expertise, taking into account the common genetic causes of isolated infertility.

Our services are based on highest CLIA certified quality standards and provide a turnaround time 20 days.

We firmly believe that genetic testing does not end with the technical processing of samples. This is why we place extraordinary emphasis on medical interpretations and counseling before reporting.

Knowing the exactly cause of infertility allows for better diagnostic decisions, and enables enhanced
counseling for parents in regard to risks for children. For this reason, genetic testing has the potential to help a significant number of couples in their wish to have children.

The goals of genetic evaluation are to identify:

  • Potentially correctable conditions
  • Irreversible conditions that are amenable using assisted reproductive techniques involving the sperm of the male partner
  • Irreversible conditions that are not amenable, and for which assisted reproduction procedures cannot help
  • Life- threatening or debilitating conditions that may be the underlying cause of infertility and require
    medical attention
  • Genetic abnormalities that may affect the health of offspring if assisted reproductive techniques are

When to suggest the infertility panel:

The infertility panel can be recommended for the following patients:

  • Trying to conceive for six months or longer
  • Menstruation is irregular or absent
  • Low sperm count, form or movement
  • Small or irregular genitals and secondary sexual features (hair, breasts, etc.)
  • Known fertility problems
  • More than one miscarriage

Benefits of infertility genetic testing:

A considerable number of couples suffering from infertility spend years in search of treatment options, often with physical, emotional, and economic losses. Identifying the cause of infertility facilitates a personalized and informed manner of management that can be adapted to the needs of the people seeking medical
support. Knowing the reason for infertility allows for better diagnostic decisions and counseling
parents regarding risks for children. For this reason, genetic testing has the potential to help a significant number of couples in their wish to have children.

Infertility management after genetic testing

When couples wishing to conceive have a genetic cause of infertility, some will choose intrauterine
insemination using donor sperm or adoption, while some couples will elect not to have children. In cases where it is the man’s sperm which are responsible infertility, the number of sperm is usually very small. In many cases, these sperm can be used to fertilize the woman’s eggs in a laboratory using a technique called intracytoplasmic sperm injection (ICSI). Also, detection of certain genetic causes of male and female infertility allows couples to be informed about the potential of transmitting genetic abnormalities that may affect the health of offspring.

Male Infertility Panel

In males, genetic abnormalities may cause infertility by affecting sperm production or sperm transport.
The most common genetic factors related to male infertility are: cystic fibrosis gene mutations,
chromosomal abnormalities, and Y-chromosome microdeletions.

Our male infertility panel covers the genes AR, CATSPER1, CFTR, FSHR, LHCGR, AZF.

Please download our recent CFTR publication.

Female Infertility Panel

The most common genetic causes of infertility in females are chromosomal abnormalities and mutations in the FMR1 gene (related to premature ovarian failure).

Our female infertility panel covers the genes CYP21A2, FSHR, LHCGR, BMP15, LHB, ZP1, FMR1.

Global Infertility Panel

To tailor our diagnostic test to our customers’ needs, we also offer a global infertility panel which covers the genes AR, CATSPER1, CFTR, FSHB, FSHR, HESX1, LHB, LHCGR, NR5A1, POU1F1, SRY/AZF.

If you would like to receive more information concerning infertility panels at CENTOGENE, please do not hesitate to contact our customer relations department (+49 381 203 652 222;
To massively simplify handling of your samples, you can easily order our CentoCard®.

To find out more about infertility testing at CENTOGENE, please find
detailed information in our downloadable flyer:

We are also always available for answering your individual questions. Please do not hesitate to contact us directly at crd(at)centogene(dot)com.



Our Department Medical Quality and Counseling for your communication - with detailed medical-genetic expertise.

Our Department Medical Quality and Counseling
Service Hotline (CET): +49 (0) 381 203 652 - 222
Monday - Friday: 7:00-20:00 | Saturday - Sunday: 9:00-17:00

Got Some Feedback?