Use

This test aids in the biochemical detection of Krabbe disease and saposin A cofactor deficiency. It is utilized as second-tier or follow-up testing after an abnormal newborn screening result for Krabbe disease. The test can detect patients with infantile or late infantile Krabbe disease or saposin A deficiency, which presents with reduced GALC activity and elevated psychosine levels. It is not capable of identifying carriers of Krabbe disease, nor is it intended for long-term monitoring of patients under treatment for Krabbe or for older children and adults at risk of developing the disease.