General information
The SALSA MLPA Probemix P456-A1 EVC EVC2 is a research use only (RUO) assay for the detection of deletions or duplications in the EVC and EVC2 genes, which are associated with Ellis-van Creveld syndrome.

The Ellis-van Creveld syndrome is a skeletal dysplasia characterized by short limbs and ribs, postaxial polydactyly and dysplastic nails and teeth. Additionally, congenital cardiac defects occur in 60% of affected individuals. The EVC and EVC2 genes, located on chromosome 4p16.2 in a head-to-head configuration, encode transmembrane proteins that are involved in the Hedgehog signalling pathway, involved in cellular organization and morphology during embryogenesis. Mutations in the EVC or EVC2 gene might also cause Weyers Acrodental Dysostosis, an autosomal dominant condition, having characteristics very similar to those of Ellis-van Creveld syndrome.

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 P456-A1 EVC EVC2 contains 52 MLPA probes with amplification products between 122 and 500 nucleotides (nt). This includes 19 probes for the EVC gene, which is one probe for every exon with the exception of exons 6 and 12. Furthermore, 23 probes for the EVC2 gene, one probe for every exon and one probe upstream of exon 1 are include in P456-A1 EVC EVC2. In addition, ten 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.mrcholland.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.mrcholland.com.