What is a 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. Such variations in the metabolism can lead in childhood to a severe diseases (inborn errors of metabolism) or lead in adults to cardiovascular diseases, cancer or neurogenerative disorders such as Alzheimer's disease.
The diseases and syndromescommonly run in families, thus are inherited. It is therefore important to draw a pedigree of the family to be able to decide wether it is appropriate to have other members of the family tested. An example of such a pedigree is shown below.
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