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Diseases & Conditions : Medical Genetics


Biochemical Genetic Testing

What is biochemical genetic testing?

Biochemical genetic testing involves the study of enzymes in the body that may be abnormal in some way. The enzymes may be deficient or absent, unstable, or have altered activity which can lead to clinical manifestations in a child (for example, birth defects). These types of disorders are usually called "inborn errors of metabolism" since they are present a birth and affect how the body's metabolism works. Metabolism is a term which describes how the body converts food to energy, and then gets rid of the waste products.
