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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.
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