SALSA MLPA P108 SCN5A probemix - 50 reactions

application: Brugada / long QT
region: SCN5A 3p22 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P108-050R

Nejnovější informace o produktu naleznete exklusivně na stránkách výrobce MRC-Holland www.mlpa.com (nové okno)

Detailní popis SALSA MLPA P108 SCN5A probemix - 50 reactions

P108-050R SALSA MLPA P108 SCN5A probemix – 50 rxn

Brugada / long QT is an autosomal recessive disorder characterized by a  distinct form of idiopathic ventricular fibrillation. The SCN5A gene product was found to have characteristics of a cardiac sodium channel. Mutations in the SCN5A gene can be the cause of the long QT and the Brugada syndromes, as well as the PCCD disease (Progressive Cardiac Conduction Defect). Deletions in SCN5A are predicted to cause Brugada syndrome whereas duplications of this gene might be found in long QT syndrome patients.

The SCN5A gene (29 exons) spans 80 Kb of genomic DNA and is located on chromosome 3p22. The P108 probemix contains one probe for each exon and one probe upstream of exon 1. For exon 29 two probes are present. In addition, 9 reference probes are included in this probemix, detecting different autosomal chromosomal locations.

This SALSA® MLPA® kit is designed to detect deletions/duplications of one or more sequences in the aforementioned gene in a DNA sample. Heterozygous deletions of recognition sequences should give a 35-50% reduced relative peak area of the amplification product of that probe. Note that a mutation or polymorphism in the sequence detected by a probe can also cause a reduction in relative peak area, even when not located exactly on the ligation site! In addition, some probe signals are more sensitive to sample purity and small changes in experimental conditions. Therefore, deletions and duplications detected by MLPA should always be confirmed by other methods. Not all deletions and duplications detected by MLPA will be pathogenic; users should always verify the latest scientific literature when interpreting their findings. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Finally, note that most defects in this gene are expected to be small (point) mutations which will not be detected by this SALSA MLPA test.

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