General information
The SALSA MLPA Probemix P108 SCN5A is a
research use only (RUO) assay for the detection of deletions or duplications in the SCN5A gene, which is associated with Brugada syndrome-1 and long QT syndrome type 3.
The Brugada syndrome-1 and long QT syndrome type 3 are two hereditary cardiac diseases associated with mutations in the SCN5A gene. The SCN5A protein is found primarily in cardiac muscle and mediates the voltage-dependent sodium ion permeability of excitable membranes. Both syndromes are ion channel diseases of the heart.
Brugada syndrome-1 is characterised by ST-segment elevation on surface electrocardiogram and long QT syndrome type 3 by a prolonged QT interval. Both disorders can lead to sudden death, which may be the first manifestation of the disease. Apart from these syndromes, mutations in the SCN5A gene are associated with several other cardiomyopathies such as familial atrial fibrillation, dilated cardiomyopathy, Romano-Ward syndrome and sick sinus syndrome 1.
More information is available at
https://www.ncbi.nlm.nih.gov/books/NBK1517/ and
https://www.ncbi.nlm.nih.gov/books/NBK1129/.
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 P108-B4 SCN5A contains 40 MLPA probes with amplification products between 142 and 453 nucleotides (nt). This includes 31 probes for the SCN5A gene.
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.