MLPA probes hybridize to target regions of the GALC gene and are amplified by multiplex PCR. The amplification products are analyzed by capillary electrophoresis and copy numbers for these GALC target regions are generated.
Analysis for the presence of GALC (OMIM:606890) copy number variants in patients with Krabbe disease.
Interpretive report provided.
This analysis will not identify variants in the coding exons, regulatory elements or deep intronic regions of GALC, and cannot detect variants in other genes associated with Krabbe disease. This assay may not detect balanced translocations 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.