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SALSA MLPA Probemix P318 Hirschsprung-2

Hirschsprung disease (HSCR)

Region: PHOX2B 4p13; GFRA3 5q31.2; GFRA2 8p21.3; GFRA1 10q25.3; EDNRB 13q22.3; NRTN 19p13.3; PSPN 19p13.3; SOX10 22q13.1

General information
The SALSA MLPA Probemix P318 Hirschsprung-2 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.

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 product description). 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 (see product description). 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.

Order Items

Probemix

Item no.
Description
Technology
Price
P318-025R
SALSA MLPA Probemix P318 Hirschsprung-2 – 25 rxn
€ 281.00
P318-050R
SALSA MLPA Probemix P318 Hirschsprung-2 – 50 rxn
€ 550.00
P318-100R
SALSA MLPA Probemix P318 Hirschsprung-2 – 100 rxn
€ 1075.00

Required Reagents (Sold Separately)

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM
€ 341.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5
€ 341.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM
€ 1571.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5
€ 1571.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM
€ 6037.00

Related Products

SALSA MLPA Probemix P169 Hirschsprung-1

Contains probes for the RET, ZEB2, EDN3 and GDNF genes, involved in Hirschsprung disease.

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