Genetic counseling in metabolic diseases

Genetic counseling in metabolic diseases

Since metabolic diseases are often associated with the involvement of several body organs, there is a need for a joint team work of different specialties, as well as the need for periodic examinations and periodic specialized tests in order to increase the quality of treatment and reduce disability and mortality. in these patients.

Considering that there is still no definitive treatment for most of these diseases, the best way is to prevent the occurrence of the disease. For this reason, if there is an infected person in the family, genetic tests should be done in order to identify the pathogenic mutation in that family, in order to prevent future children from getting infected by performing prenatal tests (amniocentesis).

Therefore, in Hope Generation Medical Institute, experts and genetic counselors in the counseling session, while clarifying the path of disease diagnosis, fully explain the ways to prevent the next child from contracting it, and if necessary,  clinical and laboratory coordination will be done. .

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