Genetic Testing

Around the world distinct ethnic groups are known to have increased risk for specific genetic diseases such as cystic fibrosis, Canavan, Tay-Sachs, familial dysautonomia, Bloom syndrome, Gaucher, Fanconi anemia, mucolipidosis, Niemann-Pick, tyrosinaemia, congenital lactic acidosis, hereditary motor and sensory neuropathy, recessive spastic ataxia of Charlevoix-Saguenay.

Couples from certain genetic origins either be Caucasian, Ashkenazi , or French Canadian in particular from Charlevoix or Saguenay Lac-Saint-Jean regions who are concerned about genetic defects should seek carrier screening and appropriate genetic counseling.

The seriousness and lack of treatment of these life threatening genetic diseases emphasize the importance of a proper evaluation of genetic prognosis and exact genetic prevention.