SALSA MLPA Probemix P446 GALC detects copy number variations in the GALC gene.
Contents: 28 MLPA probes, including 19 probes for GALC (covering all exons).
Tissue: human genomic DNA.
Application: research on Krabbe disease.
For research use only (RUO). Not for use in diagnostics.
The SALSA MLPA Probemix P446 GALC is a research use only (RUO) assay for the detection of deletions or duplications in the GALC gene, which is associated with Krabbe disease.
Krabbe disease is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems. Krabbe disease is caused by homozygous or compound heterozygous mutations in the GALC gene on chromosome 14q31.3. The protein encoded by this gene is galactosylceramidase, which is a lysosomal enzyme involved in the catabolism of galactosylceramide, a major lipid in myelin, kidney, and epithelial cells of the small intestine and colon.
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1238/.
SALSA MLPA Probemix P446 GALC is for research use only (RUO) in all territories.
A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).
The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.
Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.
The commercially available positive samples below can be used with the current (A2) version of this product.