Infertility testing. Global infertility panel. Patient information. Informations for patients

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1 Global infertility panel Infertility testing Informations for patients Patient information

2 Each of your body cells contains your genetic information called DNA. DNA carries all the information you need to live and function represented just by four letters; this is the instruction manual that determines our individual development and characteristics. If there is a change in your letter code, or if one of your chromosomes or a part of it is missing or duplicated, your instruction manual will be altered. A genetic test is a test that looks into your DNA in order to see if there is any alteration in your genetic code (mutation) or chromosome number and structure that may cause the suspected disease. Modern technologies, will help you to better understand the potential reason for infertility.

3 What is infertility? Infertility means not being able to conceive a child after one year of trying. It affects approximately 10-20% of couples throughout the world. A considerable number of these couples spend years suffering from infertility without proper emotional support or cost-effective treatment options. Knowing the reason of infertility allows better diagnostic decisions and counselling of parents can explain any potential to transmit genetic abnormalities that may affect the health of their offspring. The reasons for infertility are numerous and not entirely known. Genetic causes of infertility are varied and include chromosomal abnormalities, single gene disorders and phenotypes with multifactorial inheritance. Some genetic factors influence males specifically, whereas others affect both males and females. A male sole factor is the case in about 20% of the cases, while it is contributing in another 30-40%. What are possible causes of male infertility? If a male infertility factor is present, it is almost always defined by the finding of an abnormal semen analysis. This can be caused by: Genetic disease such as cystic fibrosis or a chromosomal abnormality Infectious diseases causing orchitis such as mumps Varicocele, resulting in overheating of testicles and elimination of spermatozoid precursor cells. Injuries or other damage to the reproductive system block the sperm movement. Toxic substances as drugs, alcohol, tobacco or environmental toxins, including pesticides and lead Older age Hormone problems or anabolica abuse Use of specific medicines that influence reproductive system Radiation treatment and chemotherapy for cancer

4 What are possible causes of female infertility? Problems with ovulation, irregular or absent menstrual periods. Polycystic ovarian syndrome, hormone imbalance problem Reduced number of available oocytes (primary ovarian insufficiency) Blocked fallopian tubes due to pelvic inflammatory disease, endometriosis, or scarring from an ectopic pregnancy Physical problems with the uterus or such as uterine fibroids, lyomyomas or endometriosis. Age (about one-third of couples in which the woman is over 35 have fertility problems) Toxic substances as drugs, alcohol, tobacco or environmental toxins, including pesticides and lead Stress, Poor diet, Being overweight or underweight Excessive athletic training Sexually transmitted diseases (STDs) Genetic causes of infertility: Genetic testing can be the key for a significant number of couples to have children. The genetic causes of infertility are varied and include chromosomal abnormalities, single gene disorders and phenotypes with multifactorial inheritance. We have designed three different panels for genetic testing of infertility in order to support you finding the cause. We have designated one specifically for male, female and one global infertility panel. The panels are mainly designed to identify genetic conditions for: Potentially correctable conditions Irreversible conditions that are amenable to assisted Reproductive techniques using the sperm of the partner Irreversible conditions that are not amenable to the above, and for which assisted reproduction procedures should be stopped Genetic abnormalities that may affect the health of offspring if assisted reproductive techniques are to be employed

5 Male infertility panel includes: Cystic fibrosis gene (CFTR) analysis Sex chromosomes abnormalities, XXY Klinefelter syndrome Y-chromosome microdeletions (AZF a, b, c deletions) Rare non-syndromic forms of infertility (CATSPER1,AR, FSHR) Female infertility panel includes: Sex chromosomes abnormalities, XXY Klinefelter syndrome FMR1 analysis (premature ovarian failure) BMP15 analysis (premature ovarian failure) ZP1 (abnormal eggs that lack a zona pellucida) Who are the candidates for infertility panel testing? We recommend that you utilize the infertility panel in the following circumstances: Failure to establish a pregnancy after trying to conceive for six months or longer Irregular or absent menstruation Low sperm count, abnormal form or movement Small or irregular genitals and secondary sexual features (hair, breasts, etc.) Known fertility problems A history of >1 miscarriage In the case that the infertility panel does not deliver clear results we always recommend to move forward with the whole exom sequencing since other genes, not being part of the Infertility panel might cause medical issues to you.

6 Please visit our website for more information: Contact details: CENTOGENE AG Doreen Niemann Senior Director Strategic Communication Schillingallee Rostock Germany Phone: +49 (0) Fax: +49 (0) CLIA #99D