28 days
Test Updated:
Galactosylceramidase
Krabbe disease
GALC Deficiency
Galactocerebrosidase Deficiency
Galactosylceramidase Deficiency
Globoid Cell Leukodystrophy
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Test Overview
The coding exons and flanking consensus splice sites of the GALC gene are amplified using specific primers, and bidirectionally sequenced using a fluorescent method.
Analysis for the presence of GALC (OMIM:606890) variants in patients with Krabbe disease.
Interpretive report provided.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
Specimen Requirements
Collect specimen in a lavender top tube. Send intact specimen within 24 hours if stored at room temperature or within 5 days if stored refrigerated. Include the patient's family history, pedigree, and ethnicity on the test requisition. Obtaining informed consent from the patient prior to genetic testing is strongly recommended. If desired, a UMHS Request and Consent for Genetic Testing form can be obtained from the MMGL Molecular Genetics Laboratory by contacting the MLabs Client Services Center at 800-862-7284 or online at https://mlabs.umich.edu/sites/default/files/2020-01/file/pci-mmgl_infor….
