Use

This test is useful for the diagnosis of Krabbe disease, serving as a confirmatory reflex for the six-enzyme panel. It is utilized for follow-up testing in the evaluation of an abnormal newborn screening result for Krabbe disease. This test is not recommended for carrier detection due to the wide range of enzymatic activities observed in carriers and noncarriers. Reduced or absent galactocerebrosidase activity in leukocytes may indicate a diagnosis of Krabbe disease. However, genetic sequencing of the GALC gene is required to differentiate disease-causing variants from other alterations.