Biochemical Genetic Testing In-Depth

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How is biochemical genetic testing done?

These studies can be performed from a blood or urine sample, spinal or amniotic fluid or other tissue sample. Doctors will look at the enzyme itself or at the mutation in the gene, which is causing the enzyme to be defective in the first place. The specific approach depends on the disorder.

How many enzyme defects can be found?

There are more than 200 defects that can be studied in humans.

How do I know if my child needs to be evaluated?

Your doctor might recommend biochemical genetic testing following a positive test result from a routine newborn screen, or when there is a family history of a particular disorder. A genetic counselor can help you to understand the risks and benefits of genetic testing and understand the results after testing.

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