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Galactose-1-phosphate uridyl transferase (GALT) is a crucial enzyme that plays a significant role in the metabolism of galactose, a sugar found in various foods. This enzyme facilitates the conversion of dietary galactose into glucose, which is then utilized by the body's cells for energy. When GALT is absent or deficient, it leads to a condition known as classic type galactosemia, which is a hereditary disorder inherited in an autosomal recessive pattern due to mutations in the GALT gene. The CPT® Code 82775 refers to a quantitative analysis that measures the concentration of GALT in the blood, providing essential information for diagnosing and managing galactosemia. To perform this test, a blood sample is collected through venipuncture, a procedure that is separately reportable. The analysis is conducted using enzymatic methodology, which allows for accurate quantification of the enzyme levels in the bloodstream. This test is particularly important in newborn screening panels, where it is used to identify metabolic disorders early in life, ensuring timely intervention and management.
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