Biochemical Genetic Testing

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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.

We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”
- Sandra L. Fenwick, President and CEO

Boston Children's Hospital 300 Longwood Avenue, Boston, MA 02115 617-355-6000 | 800-355-7944

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