HEREDITARY GENETIC DISEASE TESTING
HEREDITARY GENETIC DISEASE TESTING for couples to investigate the risk of having a child with an inherited genetic disease.
RECESSIVE GENETIC DISEASE
Two copies of the same mutated gene, one in the woman and one in the man, cause the disease.
How are the relevant conditions and genes selected?
It currently includes >1400 genes associated with more than 750 conditions. The number of conditions is smaller than the number of genes, since some genetic conditions can be caused by changes in more than one gene.
The selection of genes investigated in and is recommended by clinical geneticists, genetic scientists, genetic pathologists, and genetic counselors, and the list is reviewed regularly.
The selection of genes is based on the following criteria:
The gene is known to cause a recessive genetic condition
- The condition is early onset
- The condition has a serious impact on a person’s quality of life and/or is life-limiting
- Screening of the gene is possible using currently available technology
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:
