GENES2LIFE
Recessive genes as recommended by American College of Obstetricians and Gynecologists
GENES2LIFE
Before planning a pregnancy, both men and women can be healthy carriers of genetic mutations that can cause a disease, without being aware of them.
Highlights
- Provides knowledge about 93 genes related to rare diseases due to recessive inheritance.
- Genes2Life helps couples to make informed decisions before starting a family.
- The Genes2Life panel studies the genes related to known diseases.
Genes2Life
The genetic test is 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 the next. In most cases, families are unaware that there are carriers among them and then conditions suddenly appear in the family; this happens in disorders with recessive inheritance.
Recessive inheritance means that a person can carry disease-related variants without being aware of them.
Can a healthy person transmit a genetic disease?
Anybody can be a healthy carrier of a mutation without knowing. If the man and the woman are carrying a disease-causing mutation, there is a risk of passing it on to the next generation and then the child will be sick.
Types of genetic diseases we investigate with Genes2Life:
Spinal Muscular Atrophy.
- 1 in 6000 -10000 children are born with the disease. In the United Kingdom approx. 2000-2500 children and adults live with SMA.
Cystic Fibrosis.
- Around 1 in 30 people are carriers for CF without knowing it. In Denmark, with a birth rate of approx. 60,000, around 16 children are born per year which is equal to 1 - 2 children with cystic fibrosis per month.
Different Lysosomal Diseases.
- 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
How to do the test?
To do the test, a sample of saliva or blood is necessary. To collect the saliva sample, we will send a sample collection kit with instructions for collecting the sample, and shipping instructions for sending the sample to Amplexa Genetics.
You can expect a response no later than four weeks after we have received your sample.
THE ANALYSIS
Genes2Life test is best used to screen for couple compatibility. By screening both parents, the test can ensure that no two copies of the same disease-causing gene are present. This is especially useful for couples before starting a family.
The Genes2Life panel is based on the recommendations set by the 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/
Evaluation
Genetic variants are evaluated according to the ACMG guidelines. Based on the evaluation, variants are classified into five classes:
- Class I: Benign
- Class II: Likely benign
- Class III: Uncertain significance
- Class IV: Likely pathogenic
- Class V: Pathogenic
Classification of reported variants
- Class IV
- Class V
All variants are evaluated based on current knowledge, and interpretation may change as new information becomes available.
Limitations
The analysis is limited to protein coding regions and 10 bp from the exon-intron boundaries including splice sites of the genes within the Genes2Life panel. Non-coding regions, 5´-UTR, 3´-UTR, and promoter regions will not be analyzed, nor will large rearrangements, duplications, and insertions. Associations between genotype and phenotype are reported only as relevant to the indication for choosing the selected panel; some of the genes on the current panel may be involved in phenotypes not stated in the report.
To learn more about how Genes2Life can assist you, please contact one of our experts for more information.
