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
Genes2Life is a genetic test used prior to pregnancy 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 - they are inherited as recessive conditions. 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 woman and one in the man, cause the disease.
Genes2Life
TEST TYPE: Basic panel NGS, recommended by ACOG* RANGE: 93 genes CARRIER PROBABILITY: 1 in 100 couples at risk DISEASES INVESTIGATED: +90 diseases RESPONSE TIME: 25 workdays
We are there for you in your most important project: YOUR FAMILY
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
Reference: https://pubmed.ncbi.nlm.nih.gov/28697118/
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.