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Diagnosis of Krabbe disease
Diagnostic testing for patients with clinical signs and symptoms suspicious for Krabbe disease.
Included in the diagnostic workup for infants following a positive newborn screen result for Krabbe disease.
This test is not intended for carrier detection.
Krabbe disease (globoid cell leukodystrophy) is typically a neurodegenerative disease of infancy, but later onset cases have also been diagnosed.
Krabbe disease is caused by reduced or absent galactocerebrosidase in leukocytes or fibroblasts (CBGT / Galactocerebrosidase, Fibroblasts).
A Krabbe disease phenotype can also be caused by the absence of a physiologically active sphingolipid activator protein, saposin A (SAP-A).
This test is not recommended for carrier screening.