General information: The SALSA MLPA
Probemix P418 MYH7 is a
research use only (RUO) assay for the detection of deletions or duplications in the
MYH7 gene, which is associated with Hypertrophic Cardiomyopathy (HCM).
HCM is characterised by a cardiovascular disease with autosomal dominant inheritance. HCM is caused by defects in the genes coding for structural and/or regulatory proteins found in the sarcomere of cardiomyocytes. In ~20% of HCM patients, mutations in the
MYH7 gene on chromosome 14q11 are found. This gene encodes the beta heavy chain subunit of cardiac myosin.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1768/.
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 P418-B2 MYH7 contains 46 MLPA probes with amplification products between 132 and 504 nucleotides (nt). This includes 37 probes for the
MYH7 gene, one probe for each exon of the gene, with the exception of exons 10, 31, 35, 36, and 37, and two probes for exons 9 and 40. 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.