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Tay-Sachs, Canavan, Sandhoff, GM1 and related diseases

Carrier testing

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Carrier testing

Carrier testing can determine if a person carries one of the altered genes that cause a recessive disease. DNA carrier testing establishes the presences or absences of particular mutation(s). Enzymatic testing evaluates the level of activity of an enzyme, which when absent causes disease. In some diseases the enzyme test is not sensitive enough to determine carrier status.

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