General information
The SALSA MLPA Probemix P318 Hirschsprung is a
research use only (RUO) assay for the detection of deletions or duplications in the
PHOX2B, GFRA3, GFRA2, GFRA1, EDNRB, NRTN, PSPN, and
SOX10 genes, which are associated with Hirschsprung disease.
Hirschsprung disease is the main cause of functional intestinal obstruction. This disorder is characterised by the absence of the enteric ganglia along a variable length of the intestine. Two types of Hirschsprung disease have been described. The short-segment form, in which the aganglionic segment does not extend beyond the upper sigmoid, accounts for 80% of the cases. The long-segment form, in which aganglionosis extends proximal to the sigmoid, accounts for the remaining 20% of the cases. Both forms can be caused by dominant mutations in the
RET gene (P169 Hirschsprung-1 probemix), as well as by recessive mutations in several other genes.
This P318 has been designed to detect deletions and duplications of one or more exons of eight genes involved in Hirschsprung disease:
PHOX2B,
GFRA3,
GFRA2,
GFRA1,
EDNRB,
NRTN,
PSPN, and
SOX10.
More information is available at
https://www.ncbi.nlm.nih.gov/books/ and
https://www.ncbi.nlm.nih.gov/omim?cmd=search
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 P318-B2 Hirschsprung-2 contains 47 MLPA probes with amplification products between 130 and 472 nucleotides (nt). This includes: three probes for the
PHOX2B gene; five probes for the
GFRA3 gene; five probes for the
GFRA2 gene; six probes for the
GFRA1 gene; eight probes for the
EDNRB gene; three probes for the
NRTN gene; three probes for the
PSPN gene; five probes for the
SOX10 gene (see Table 2). 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.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.