SALSA MLPA Probemix P108 SCN5A detects copy number variations in the SCN5A gene.
Contents: 40 MLPA probes, including 31 probes for the SCN5A region.
Tissue: human genomic DNA.
Application: research on Brugada syndrome-1 and long QT syndrome type 3.
For research use only (RUO). Not for use in diagnostics.
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/.
SALSA MLPA Probemix P108 SCN5A 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.
We have no information about specific commercially available positive samples that can be used with this product.