Diagnosis starts as the first step towards identifying the presence of a genetic disorder in an individual. It also constitutes the first process upon which services to support the family affected emanate. Diagnosis start with a complete physical examination that involves identifying and analyzing symptoms related to a family hereditary disorder. In diagnosing Tay-Sachs disease (TSD), prenatal testing is done where chorionic villus sampling (CVS) or amniocentesis is employed to screen for the presence of a genetic disorder. In some cases, a blood test may be undertaken where the couples’ blood is tested to find out if they are genetic carriers of Tay-Sachs.

When diagnosed, the disorder is found to be characterized by a deficiency of the enzyme hexosaminidase A, that later causes developmental retardation, paralysis, dementia, and blindness among infants up to the age of 5 years.

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