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P169 Hirschsprung-1

SALSA MLPA Probemix P169 Hirschsprung-1 detects copy number variations in the RET, ZEB2, EDN3 and GDNF genes.

Specifications

Contents: 51 MLPA probes, including 20 probes for RET, 12 probes for ZEB2, 5 probes for EDN3, and 5 probes for GDNF.

Tissue: human genomic DNA.

Application: research on Hirschsprung disease (HSCR).

For research use only (RUO). Not for use in diagnostics.

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List Prices Documentation

Key related products

P318 Hirschsprung-2

Contains probes for the PHOX2B, GFRA3, GFRA2, GFRA1, EDNRB, NRTN, PSPN and SOX10 genes.

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General information

The SALSA MLPA Probemix P169 Hirschsprung-1 is a research use only (RUO) assay for the detection of deletions or duplications in the RET, ZEB2, EDN3 and GDNF genes, which are associated with Hirschsprung disease (HSCR). HSCR or aganglionic megacolon, is a congenital disorder characterised by the absence of enteric ganglia along a variable length of the intestine. The disease can be classified according to the length of the aganglionosis into short segment (accounts for 80% of the HSCR cases), long segment and total colonic aganglionosis forms. Dominant mutations in the RET gene, as well as recessive mutations in several other genes including the ZEB2, EDN3, and GDNF genes, are associated with HSCR.

The RET gene encodes for one of the cell-surface receptor tyrosine kinases, which plays a role in cell growth and differentiation. RET is composed of 20 exons, spans ~53 kb of genomic DNA, and is located on 10q11.21, ~43 Mb from the p-telomere. The ZEB2 gene encodes for a member of the Zfh1 family and functions as a DNA-binding transcriptional repressor that interacts with activated SMADs (SMADs are the main signal transducers for receptors of the TGF-β superfamily). The EDN3 gene encodes for a member of the endothelin family. EDN3 consists of 5 exons, spans ~26 kb of genomic DNA, and is located on 20q13.32, ~59 Mb from the p-telomere. The GDNF gene encodes for a neurotrophic factor. GDNF consists of 3 exons, spans ~27 kb of genomic DNA and is located on 5p13.2, ~38 Mb from the p-telomere.

More information on HSCR is available at https://www.ncbi.nlm.nih.gov/books/NBK1439/.

Regulatory status

SALSA MLPA Probemix P169 Hirschsprung-1 is for research use only (RUO) in all territories.

Product documentation

Version C2

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P169-025R
SALSA MLPA Probemix P169 Hirschsprung-1 – 25 rxn
MLPA
€ 286.00
P169-050R
SALSA MLPA Probemix P169 Hirschsprung-1 – 50 rxn
MLPA
€ 560.00
P169-100R
SALSA MLPA Probemix P169 Hirschsprung-1 – 100 rxn
MLPA
€ 1096.00

Required reagents

A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
MLPA MS-MLPA
€ 348.00
EK1-CY5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 348.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK5-CY5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6152.00

Price details & ordering

The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.

More information about ordering & prices

Positive samples

Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.

We have no information about specific commercially available positive samples that can be used with this product.

Resources

General MLPA resources

MLPA education

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