Krabbe disease - Enzyme Analysis

Disease name Krabbe disease
Enzyme Name Galactocerebrosidase (or Galactosylceramide β-galactosidase)
Clinical info Krabbe disease leads to the accumulation of galactosylceramide specifically in brain white matter, causing a neurological phenotype. Patients with the severe, infantile form of Krabbe disease will typically present by 3-6 months of age with rapidly progressive neurodegeneration, muscle rigidity, seizures, irritability, vomiting, and blindness and/or deafness. Approximately 10-15% of cases exhibit a milder, late onset clinical phenotype, with patients presenting with general weakness or stiffness, ataxia, vision loss, and some intellectual regression.
Indications Patients with a suspected diagnosis of Krabbe disease. Prenatal diagnosis and carrier testing via enzyme analysis are not available
Specimen Requirements

Krabbe disease enzyme analysis is performed on dried blood spots. A minimum of three circles need to be filled in.  Each circle should contain one drop of blood (about 100 microliters).  See the link below for additional sample collection and handling instructions.

Sample Collection and Requirements

A whole blood sample (3-5 ml) in a green top, sodium heparin tube can also be submitted for this test.

In addition, a dried blood spot or blood drawn in an EDTA tube can be used for Krabbe molecular analysis and may be sent for DNA banking. Please indicate on the requisition if DNA should be banked for follow-up molecular testing.

Transport For a dried blood spot:  When the sample has dried 3-4 hours, fold cover at score line, over sample, and tuck into flap. Samples should be placed in the mail within 24 hours of collection. Overnight shipping is preferred.

Whole blood samples should be sent at ambient temperature and must arrive to the laboratory within 24 hours of specimen collection.
Turnaround time 14 days
CPT Codes 82657
Cost $200
Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.

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