General information: The SALSA MLPA Probemix P453 GAA is a research use only (RUO) assay for the detection of deletions or duplications in the lysosomal acid alpha-glycosidase (GAA) gene, which is associated with Pompe disease.

Acid alpha-glycosidase is active in lysosomes where it breaks down glycogen. Mutations in the GAA gene cause Pompe disease, a condition where the activity of acid alpha-glycosidase is significantly reduced. As a results, glycogen builds up to toxic levels in the lysosome. This accumulation damages multiple organs and tissues, particularly muscles, leading to progressive muscle weakness, heart problems, and other features.
Pompe disease can be classified by age of onset and severity. Infantile-onset Pompe disease (IOPD) begins before the age of 12 months, usually within a few months after birth, and is characterized by cardiomyopathy. Late-onset Pompe disease (LOPD) includes individuals with onset before 12 months of age without cardiomyopathy and individuals with onset after 12 months.
Pompe disease is inherited in an autosomal recessive manner. Approximately 5-13% of pathogenic GAA variants are intragenic deletions or duplications.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1261/

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 P453-A2 GAA contains 27 MLPA probes with amplification products between 130 and 400 nucleotides (nt). This includes 18 probes for the GAA gene, one probe for each exon, with the exception of exons 2 and 11. 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.