Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
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Diagnosis of Krabbe disease
Follow-up testing for evaluation of an abnormal newborn screening result for Krabbe disease
This test is not intended for carrier detection.
This test provides diagnostic testing for patients with clinical signs and symptoms suspicious for Krabbe disease.
Enzyme testing for galactocerebrosidase is included in the diagnostic workup for infants following a positive newborn screen result for Krabbe disease.
The following are available in Special Instructions:
-Newborn Screen Follow-up for Krabbe Disease: Galactocerebrosidase
-Newborn Screen Follow-up for Krabbe Disease: Galactocerebrosidase and Psychosine
-Newborn Screening Act Sheet Krabbe Disease: Decreased Galactocerebrosidase
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)