General information: 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/.
This SALSA MLPA Probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.
Probemix content: The SALSA MLPA Probemix P446-A2 GALC contains 28 MLPA probes with amplification products between 141 and 359 nucleotides (nt). This includes 19 probes for the
GALC gene, one probe for each exon, two probes for exon 17, and one probe for alternative exon 1 of transcript variant 4 (NM_001201402), which is located 0.2 kb upstream of exon 1 of transcript variant 1 (NM_000153). In addition, nine reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (
www.mlpa.com).
This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at
www.mlpa.com.