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P243 SERPING1 - F12

SALSA MLPA Probemix P243 SERPING1-F12 detects copy number variations in the SERPING1 and F12 genes.

Specifications

Contents: 33 MLPA probes, including 8 probes for SERPING1 (covering all exons), and 13 probes for F12.

Tissue: human genomic DNA.

Application: research on hereditary angioedema (HAE).

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

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List Prices Documentation

General information

The SALSA MLPA Probemix P243 SERPING1-F12 is a research use only (RUO) assay for the detection of deletions or duplications in the SERPING1 and F12 genes, which are associated with hereditary angioedema (HAE).

HAE is a rare autosomal dominant disorder characterized by episodic local subcutaneous and submucosal oedema, involving the upper respiratory and gastrointestinal tracts. There are three types of HAE: type I, II, and III, which can be distinguished by underlying genetic cause and protein levels in the blood. HAE types I and II are primarily caused by defects in the SERPING1 gene, encoding the C1 esterase inhibitor protein (C1NH), which inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. In type I HAE, representing 85% of patients, serum levels of C1NH drop to less than 35%. In contrast, type II HAE is caused by non-functionality of the SERPING1 gene, leaving protein levels normal or even elevated. The SERPING1 gene is not involved in type III HAE, leaving the function and concentration of C1NH unaltered. Although type III is not fully explained, at least part of these patients harbour activating mutations in the F12 (factor 12) gene.

Regulatory status

SALSA MLPA Probemix P243 SERPING1 - F12 is for research use only (RUO) in all territories.

Product documentation

Version B1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P243-025R
SALSA MLPA Probemix P243 SERPING1 - F12 – 25 rxn
MLPA
€ 286.00
P243-050R
SALSA MLPA Probemix P243 SERPING1 - F12 – 50 rxn
MLPA
€ 560.00
P243-100R
SALSA MLPA Probemix P243 SERPING1 - F12 – 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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