SALSA MLPA P318 Hirschsprung-2 probemiximproved

application: Hirschsprung disease
region: PHOX2B, GFRA3, GFRA2, GFRA1, EDNRB, NRTN, PSPN, SOX10
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version: B1
sold since: 2017-10-18

item no. description price
P318-025R SALSA MLPA P318 Hirschsprung-2 probemix – 25 rxn € 237
P318-050R SALSA MLPA P318 Hirschsprung-2 probemix – 50 rxn € 474
P318-100R SALSA MLPA P318 Hirschsprung-2 probemix – 100 rxn € 948
EK1-FAM SALSA MLPA EK1 reagent kit – 100 rxn - FAM € 294
EK1-Cy5 SALSA MLPA EK1 reagent kit – 100 rxn - Cy5 € 294
EK5-FAM SALSA MLPA EK5 reagent kit – 500 rxn - FAM € 1355
EK5-Cy5 SALSA MLPA EK5 reagent kit – 500 rxn - Cy5 € 1355

Please note that both a probemix and reagent kit are needed to perform MLPA.

description
Hirschsprung disease (MIM142623) 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-B1 MLPA probemix 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.

  • The PHOX2B gene (3 exons) spans 4.9 kb of genomic DNA and is located on 4p13, 41 Mb from the p-telomere. This probemix contains one probe for each exon of the PHOX2B gene.
  • The GFRA3 gene (8 exons) spans 22.2 kb of genomic DNA and is located on 5q31.2, 138 Mb from the p-telomere. This probemix contains one probe for each exon of the GFRA3 gene with the exception of exon 1, 5 and 7.
  • The GFRA2 gene (9 exons) spans 108.5 kb of genomic DNA and is located on 8p21.3, 22 Mb from the p-telomere. This probemix contains probes for exon 3, 4, 6, 7 and 9 of the GFRA2 gene.
  • The GFRA1 gene (11 exons) spans 210.0 kb of genomic DNA and is located on 10q25.3, 118 Mb from the p-telomere. This probemix contains probes for exon 2, 3, 5, 6, 8 and 10 of the GFRA1 gene.
  • The EDNRB gene (8 exons) spans 80.0 kb of genomic DNA and is located on 13q22.3, 77 Mb from the p-telomere. This probemix contains one probe for each exon of the EDNRB gene (two probes for exon 2 and 8), with the exception of exon 1 and 5.
  • The NRTN gene (2 exons) spans 4.5 kb of genomic DNA and is located on 19p13.3, 6 Mb from the p-telomere. This probemix contains one probe for each exon of the NRTN gene (two probes for exon 2).
  • The PSPN gene (2 exons) spans 0.6 kb of genomic DNA and is located on 19p13.3, 6 Mb from the p-telomere. This probemix contains one probe for each exon of the PSPN gene (two probes for exon 1).
  • The SOX10 gene (4 exons) spans 12.2 kb of genomic DNA and is located on 22q13.1, 37 Mb from the p-telomere. This probemix contains one probe for each exon of the SOX10 gene (two probes for exon 4).

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned genes in a DNA sample. Heterozygous deletions of recognition sequences should give a 35-50% reduced relative peak height 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 height, 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.

related products
SALSA MLPA P169 Hirschsprung-1 probemix
Contains probes for the RET, ZEB2, EDN3 and GDNF genes, involved in Hirschsprung disease.

product history
version B1: Nine reference probes have been added and the length of several probes has been adjusted.
version A2: Compared to previous lot, the control fragments have been changed (QDX2) and some lengths have been adjusted
version A1: changes not specified

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