Recessive genetic diseases for treatable diseases

The test panel consists of 93 genes associated with recessive diseases. The panel is specifically designed to only include diseases that are treatable and is therefore useful for parents that seek to become pregnant without a donor.

 

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 is at risk
  • Characteristics and symptoms are related to a known disease
  • The disease has a detrimental effect on the quality of life
  • The disease may damage physical and mental ability
  • The disease requires surgical or medical intervention
  • It is an early-onset disease
  • The disease can be diagnosed prenatally
 

TYPE OF GENETIC DISEASES INVESTIGATED WITH GENES2LIFE:

Genetic diseases: Spinal muscular atrophy. 
Statistics: 1 in 6000 -10000 children are born with the disease. In the United Kingdom approx. 2000-2500 children and adults live with SMA.

Genetic diseases: Cystic Fibrosis.
Statistics: Approx. 1 in 30 people is a healthy carrier of cystic fibrosis without knowing it. In Denmark, 1-2 children are born with cystic fibrosis every month. This represents approx.  150000 people in Denmark.

Genetic diseases: Lysosomal diseases such as Tay-Sachs, Sandhoffs, Niemann, Gauchers, Mannosidose, Fukosidose, Sialidose, Hurlers, Hunter, Sanfilippos, Morquios, I-cell, Cystinose, Sallas, Wolmans.
Statistics: Approx. 70 different lysosomal diseases. Each of these is very rare, but as a group, they affect about 1 in 5000-8000 newborns. Every year, about 10 children are born with one of these diagnoses in Denmark. 

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

GET TESTED BEFORE:

  • Trying to get pregnant.
  • Starting an assisted fertilization treatment.

How to do it?

    Scroll to Top