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P117 ABCC8

SALSA MLPA Probemix P117 ABCC8 detects copy number variations in the ABCC8 gene.

Specifications

Contents: 49 MLPA probes, including 39 probes for ABCC8 (covering all exons).

Tissue: human genomic DNA.

Application: research on familial hyperinsulinemic hypoglycemia 1 (HHF1).

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

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List Prices Documentation

General information

The SALSA MLPA Probemix P117 ABCC8 is a research use only (RUO) assay for the detection of deletions or duplications in the ABCC8 gene, which is associated with familial hyperinsulinemic hypoglycemia 1.

Familial hyperinsulinemic hypoglycemia 1 (HHF1) is familial hyperinsulinism caused by mutations in the gene encoding the SUR1 subunit of the pancreatic beta cell inwardly rectifying potassium channel (ABCC8). Familial hyperinsulinism causes low blood glucose concentrations in infancy due to unregulated insulin release.

Mutations can be divided into two classes. Class I mutations result in the absence of the protein at the surface of the cell membrane and class II mutations cause an always closed channel at the surface of the cell membrane. The latter class gives a less severe phenotype than the former class (Flanagan et al. 2009). ATP-binding cassette, subfamily C, member 8 (ABCC8), together with the pore-forming KCNJ11, forms the pancreatic subtype of KATP channels. ATP-sensitive potassium channels (KATP) link membrane potential to cellular metabolism like insulin secretion and neurotransmitter release, by regulating the flux of potassium ions across the cell membrane. They are located in pancreas, heart and vascular smooth muscle tissue.

The ABCC8 gene (39 exons) spans ~84 kb of genomic DNA and is located on chromosome 11p15.1, ~17 Mb from the p-telomere.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1375/.

Regulatory status

SALSA MLPA Probemix P117 ABCC8 is for research use only (RUO) in all territories.

Product documentation

Version C3

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P117-025R
SALSA MLPA Probemix P117 ABCC8 – 25 rxn
MLPA
€ 286.00
P117-050R
SALSA MLPA Probemix P117 ABCC8 – 50 rxn
MLPA
€ 560.00
P117-100R
SALSA MLPA Probemix P117 ABCC8 – 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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