CPT® Code 82759

The CPT® Code 82759 refers to a laboratory test that measures the levels of galactokinase in red blood cells (RBC). Galactokinase is an enzyme that plays a crucial role in the metabolism of galactose, a simple sugar found in various foods. This enzyme is part of the galactokinase, homoserine kinase, and mevalonate kinase (GHMP) family, which are essential for the biosynthesis of isoprenes and amino acids, as well as the metabolism of carbohydrates. When galactokinase is deficient, it can lead to a metabolic disorder known as galactosemia type 2, which typically presents in infancy and may result in serious complications such as infantile cataracts. The underlying cause of this deficiency is a mutation in the GAL12 gene, which is inherited in an autosomal recessive manner. To perform this test, a blood sample is collected through a procedure known as venipuncture, which is separately reportable. The analysis of the whole blood or red blood cells is conducted using a quantitative radioisotopic methodology, ensuring accurate measurement of galactokinase levels in the sample.