Galactocerebrosidase, Leukocytes
Use
This test is useful for the diagnosis of Krabbe disease and serves as a follow-up testing for evaluating an abnormal newborn screening result for Krabbe disease. It provides diagnostic testing for patients with clinical signs and symptoms suspicious for Krabbe disease. Reduced or absent galactocerebrosidase in leukocytes can indicate a diagnosis of Krabbe disease. However, this test is not intended for carrier detection.
Special Instructions
The test will not detect carrier status. For differentiating alterations from disease-causing variants in affected patients and for carrier detection in family members, molecular sequencing of the GALC gene is necessary. Order GALC / Krabbe Disease, GALC Gene Sequencing with Deletion/Duplication, Varies.
Limitations
Pseudodeficiency of galactocerebrosidase causes reduced enzymatic activity but does not cause disease. Saposin A deficiency can also cause a Krabbe disease-like phenotype. Enzyme levels may be normal in individuals who have undergone hematopoietic stem cell transplant.
New York Approved
Methodology
Mass Spectrometry (LC-MS/MS)
Biomarkers
LOINC Codes
- 24084-6
- 24084-6
- 59462-2
- 18771-6
Result Turnaround Time
3-7 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
6 mL
Minimum Volume
4 mL
Container
Yellow top (ACD solution B); Acceptable: Yellow top (ACD solution A), Lavender top (EDTA)
Collection Instructions
Send whole blood specimen in original tube. Do not aliquot.
Storage Instructions
For optimal isolation of leukocytes, it is recommended the specimen arrives refrigerated within 6 days of collection. Collect specimen Monday through Thursday only and not the day before a holiday.
Causes for Rejection
Gross hemolysis
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 6 days |
| Refrigerated | 6 days |