GENE TEST

A gene test allows to proof or to exclude one or several variations in the DNA sequence from a coding region (gene) that may or may not cause a change in the function of the cell metabolism. As a change in the nucleotide sequence in the coding region has often a direct impact on the sequence of the protein, a gene test allows usually to predict small or large functional changes in the metabolism caused by these variations... When a inherited disorder is diagnosed in a particular family, further family members can be easily tested by gene tests and the diagnosis of this disease can either be confirmed of excluded. As this strategy to identify an affected individual in such a family is very cost-effective (in autosomal-dominant disorders up to 50 percent of the first degree family members are affected) programs endorsed by the World Health Organization are being carried out in many countries. An example is the MED PED (Make Early Diagnosis - Prevent Early Death) program for familial..

Primary location: Reinach Switzerland