New Service: CeGaT’s Diagnostic Panel “Fertility” Identifies Genetic Causes for Infertility

CeGaT’s genetic infertility testing aims to identify the cause of involuntary childlessness: An appropriate diagnosis provides clarity for those affected. Based on the findings, the attending physicians can further improve the chances of having a child.

People that have been trying in vain to start a family for a long time experience enormous psychological pressure, emotional suffering, and financial burden. It is, therefore, crucial for their quality of life to identify the cause as soon as possible.

According to estimates, up to 10 percent of involuntary childlessness stems from genetic causes, such as hereditary hormonal disturbances. CeGaT now offers one of the most comprehensive genetic diagnostic panels for female and male infertility. It comprises all relevant genes known according to the current state of science. The 141 genes in men and women are divided into 11 gene sets covering the most frequent conditions that cause genetic infertility or recurrent pregnancy loss:

  • Primary ovarian insufficiency (FER01)
  • Premature ovarian failure (FER02)
  • Ovarian dysgenesis (FER03)
  • Recurrent pregnancy loss, early embryonic arrest, and thrombophilia (FER04)
  • Thyroid dyshormogenesis and congenital hypothyroidism (FER05)
  • Azoospermia (FER06)
  • Oligozoospermia (FER07)
  • Oligoastheno-teratozoospermia (FER08)
  • Irregularly sperm and flagella morphology (FER09)
  • Hypogonadotropic hypogonadism with or without anosmia (FER10)
  • Pituitary hormone deficiency (FER11)

Once treating physicians know the genetic cause, they can determine the optimal procedure to hopefully realize their patients’ desire for a child, such as tailored hormonal therapies or assisted reproductive technologies. Futile attempts can be avoided.

CeGaT’s diagnostic panel “Fertility” is also relevant for families in which genetic infertility has been diagnosed. Relatives who wish to have children can have their genetic predisposition tested before they try to start a family. Further information on the service can be found here.

All diagnostic panels include a panel-wide deletion/duplication screening using the copy number variation (CNV) track. We validate our analysis using MLPA or qPCR. The del/dup analysis contributes to CeGaT’s high-quality medical reports and provides you with all major analysis options available.