General information: The SALSA MLPA Probemix P168 ARVC-PKP2 is a research use only (RUO) assay for the detection of deletions or duplications in the PKP2, DSG2, DSC2, JUP, DSP, TGFB3, and RYR2 genes, which are associated with Arrhythmogenic right ventricular cardiomyopathy (ARVC).

ARVC is a disease with primarily right ventricular dysplasia and is characterised by fibro-fatty infiltration of the myocardium. The clinical presentation is irregular but predominantly characterised by ventricular arrhythmias, syncope, and sudden cardiac death. Diagnosis can be difficult in certain cases but is facilitated by criteria proposed by the Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) Task Force.

Mutations in the plakophilin-2 (PKP2) gene have been found in approximately 30% of patients with ARVC. Other genes that have been linked to ARVC are desmoglein-2 (DSG2), desmoscollin-2 (DSC2), plakoglobin (JUP), desmoplakin (DSP), transforming growth factor-ß3 (TGFB3), and the cardiac ryanodine receptor (RYR2) genes. Mutations in one of these latter genes are found in only a small subset of ARVC patients.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1131/.

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 P168-D1 ARVC-PKP2 contains 44 MLPA probes with amplification products between 124 and 490 nucleotides (nt). This includes 16 probes for PKP2 gene, one probe for each exon, with the exception of exon 2, including one in the promoter region, one probe in intron 1 and two probes for exon 4. Furthermore, five probes for DSP gene, three probes for JUP, DSC2, DSG2 and TGFB3 genes, and two probes for RYR2 gene are included. 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.