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P464 INSR

SALSA MLPA Probemix P464 INSR detects copy number variations in the INSR gene.

Specifications

Contents: 39 MLPA probes, including 30 probes for INSR.

Tissue: human genomic DNA.

Application: research on INSR-related severe syndromic insulin resistance.

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

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List Prices Documentation

Key related products

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Contains probes for the ABCC8 gene, involved in familial hyperinsulinemic hypoglycemia 1.

P217 IGF1R

Contains probes for the IGF1R gene and other genes related to prenatal and postnatal growth failure.

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General information

The SALSA MLPA Probemix P464 INSR is a research use only (RUO) assay for the detection of deletions or duplications in the INSR gene, which is associated with INSR-related severe syndromic insulin resistance.

INSR-related severe syndromic insulin resistance comprises a spectrum of milder to severe phenotypes, ranging from Donohue syndrome (most severe) to Rabson-Mendenhall syndrome (milder), based on the original clinical descriptions. Donohue syndrome is characterized by severe insulin resistance, severe growth failure, hypotonia, developmental delay, characteristic facial features and enlarged organs. Death usually occurs before the age of one. Rabson-Mendenhall syndrome is characterized by severe insulin resistance, with growth delay and intellectual disability varying from case to case. Facial features can be milder compared to Donohue syndrome. Life expectancy varies but death usually occurs in the second decade, most commonly because of complications of hyperglycemia. These disorders are extremely rare, with a prevalence estimated at under 1:1,000,000. INSR encodes the insulin receptor protein. This protein plays an important role in the insulin signalling pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protein.

The INSR gene (22 exons) spans ~182 kb of genomic DNA and is located on chromosome 19p13.2, ~7 Mb from the p-telomere.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK476444/.

Regulatory status

SALSA MLPA Probemix P464 INSR is for research use only (RUO) in all territories.

Product documentation

Version A1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P464-025R
SALSA MLPA Probemix P464 INSR – 25 rxn
MLPA
€ 286.00
P464-050R
SALSA MLPA Probemix P464 INSR – 50 rxn
MLPA
€ 560.00
P464-100R
SALSA MLPA Probemix P464 INSR – 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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