We want to be parents, but before that we would like to know if our child is at risk of inheriting a rare disease.


GENES2LIFE

When a new phase in their lives begins, and a couple considers starting their own family, they often focus on needs that they believe to be critical for creating their own family. This is often an issue such as the woman's health, baby care, and financial security.

For a pregnancy to happen, a sperm must unite with an egg. This results in a fertilized egg in which 50% of the genes come from the father, and 50% come from the mother. The fertilized egg attaches itself to the woman's uterus, and after 2-3 weeks, the couple receives the happy news that they are expecting a child. At this moment, the couple wants nothing more than a healthy baby. 

Also, the couple realizes that the baby will inherit physical and genetic characteristics from both of their families.
The child will inherit not only the father's blue eyes and the grandmother's curly hair, but it may also inherit one or more diseases. Some diseases can be treated medically, while others are rare diseases with no treatments. 
Do you know if you and your partner are healthy
and ready to start a new family?

GENES2LIFE

Genes2Life is a genetic test used to investigate whether there is a risk of having a child with an inherited genetic disease. Hereditary diseases are inherited through genetic material from one generation to another. In some cases, conditions can “skip” one generation and be inherited in the next; this happens in disorders with recessive inheritance. Recessive inheritance means that a person can carry disease-related mutations without being aware of them.

RECESSIVE GENETIC DISEASE

Two copies of the same mutated gene, one in the mother and one in the father, cause the disease.

WE NEED A BLOOD OR SALIVA SAMPLE FOR THE TEST



GENETIC TESTING PLAYS AN IMPORTANT ROLE

Genetic testing plays an essential role in infertility treatments. One of the reasons why fertility treatments may fail is the presence of genetic mutations that can lead to repeat abortions and unsuccessful treatments.

 

The selection of genes investigated in Genes2Life follows the criteria recommended by ACOG (American College of Obstetricians and Gynecologists):

 

  • Carrier probability: 1 in 100 couples at risk
  • Characteristics and symptoms related to a known disease
  • Have a detrimental effect on the quality of life
  • Can damage physical and mental ability
  • Require surgical or medical intervention
  • Early-onset disease
  • Can be diagnosed prenatally
Reference: https://pubmed.ncbi.nlm.nih.gov/28697118/

TYPE OF GENETIC DISEASES INVESTIGATED WITH GENES2LIFE:




Reference: https://www.orpha.net/consor/cgi-bin/index.php?lng=EN

GET TESTED BEFORE:

  • Trying to get pregnant.
  • Starting an assisted fertilization treatment.
  • Starting treatment with donor eggs or sperm. Both patient and donor can be healthy carriers of diseases with a genetic mutation in the same gene.

HOW TO DO IT?



 

 

 

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