Biochemical Genetic Testing

  • Biochemical genetic testing involves the study of enzymes in the body that may be abnormal in some way. The enzymes may function improperly or be absent or unstable. Any type of altered enzyme activity can cause birth defects and inherited metabolic disorders known as "inborn errors of metabolism." Metabolism is the process by which the body converts food into energy and waste, and enzymes play a key role in all stages of this process.

    Biochemical genetic testing at Boston Children's Hospital is performed in the Metabolism Program. Our teams of metabolic specialists provide diagnostic and ongoing care for children, adolescents and adults with inherited metabolic disorders such as Tay Sachs disease, phenylketonuria and others.

    Contact Us

    Metabolism Program
    Boston Children's Hospital
    300 Longwood Avenue, Hunnewell-3Fegan 10
    Boston MA 02115 
    857-218-4636  fax: 617-730-0466 

  • 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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