Genetic testing for infertility indications

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 has been estimated that as many as 15% of all couples wishing to conceive are affected by infertility^1,2; it is generally attributed to males and females equally. Indications of infertility in women include irregular or missed periods, polycystic ovarian syndrome or endometriosis; in men infertility is typically suggested by low (or no) sperm count or low sperm motility.

Genetic testing can be the key for a significant number of infertile couples trying to have children. Understanding the reason for infertility can often lead to success with a range of assisted reproductive techniques. Counseling of parents can explain any potential to transmit genetic abnormalities that may affect the health of their offspring.

• Individuals with presentation of the most common symptoms of infertility such as amenorrhea, azoospermia, secondary sex character findings
  
  
• Individuals with a positive family history of infertility
  
  
• Individuals without a positive family history but with characteristic symptoms
  
  
• Individuals with a negative but suspected family history in order to perform proper genetic counseling (prenatal analyses are recommended in families of affected individuals)
  
  

Confirmation of a clinical diagnosis through genetic testing allows for genetic counseling and may lead to immediate medical management. For each presented case and phenotype, a full medical report will be produced including a tailored diagnostic strategy.

Clinical symptoms are not always the product of the same gene or genetic variation; any diagnosis is determined as a combination of the in-depth clinical information provided and the identified genetic cause.