Test Overview
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
Aiding in the biochemical diagnosis of Krabbe disease using whole blood specimens
Follow-up of individuals affected with Krabbe disease
Follow-up testing after an abnormal newborn screening result for Krabbe disease
Monitoring of individuals at risk to develop late onset Krabbe disease
Monitoring of individuals with Krabbe disease after hematopoietic stem cell transplantation
Normal <5 pmol/g Hb
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
Individuals with later onset disease, such as adult-onset Krabbe disease, may have a normal psychosine result.
Test Details
4 - 8 days
Specimen Requirements
Collect specimen in an EDTA lav top tube. Send to Specimen Processing refrigerated.
MUST be sent refrigerated
Additional Information
Test performed by Mayo Clinic Laboratories