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.

Boston Children’s is so much more than a hospital—it’s a community of researchers, clinicians, administrators, support staff, innovators, teachers, patients and families, all working together to make the impossible possible. ”
- Sandra L. Fenwick, President and CEO

Boston Children's Hospital
300 Longwood Avenue, Boston, MA 02115
For Patients: 617-355-6000
For Referring Providers: 844-BCH-PEDS | 844-224-7337