What is genetic testing for enzyme deficiency?
Genetic testing for enzyme deficiency involves analyzing DNA to identify mutations that affect enzyme production.
Why would someone need this type of testing?
It helps diagnose genetic disorders, guide treatment options, and assess the risk of passing conditions to offspring.
What are some common enzyme deficiencies that can be tested for?
Common enzyme deficiencies include phenylketonuria (PKU), galactosemia, and maple syrup urine disease.
How is the testing done?
Testing typically involves a blood sample or saliva, which is then analyzed in a lab for genetic mutations.
Are there any risks associated with genetic testing?
Generally, genetic testing is safe, but it can have emotional and psychological impacts, and results may affect family dynamics.
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