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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 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 GM2 gangliosidosis (Tay-Sachs disease), phenylketonuria, and others.

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 that 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.

Practitioners Who Specialize In This Condition (4)

Stephanie Sacharow, MD

Stephanie Sacharow, MD

Director, Dr. Harvey Levy Program for Phenylketonuria and Related Conditions; Attending Physician, Division of Genetics and Genomics
Assistant Professor, Harvard Medical School
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