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.
This analysis will not identify variants in the regulatory elements or deep intronic regions of the GALC gene, and cannot detect variants in other genes associated with the clinical diagnosis. This sequencing assay may not detect large deletions, duplications or rearrangements involving GALC.
- Krabbe disease
- GALC Deficiency
- Galactocerebrosidase Deficiency
- Galactosylceramidase Deficiency
- Globoid Cell Leukodystrophy
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….
By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includes medical geneticist interpretation of results billed as a separate additional charge. This test is not available without interpretation.