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SALSA MLPA Probemix P062 LDLR

SALSA® MLPA® Probemix P062 LDLR detects copy number variations of the LDLR gene.

Specifications

Contents: 34 MLPA probes, including 21 probes (1 upstream) for the LDLR gene

Tissue: genomic DNA isolated from human peripheral whole blood.

Application: Familial hypercholesterolaemia (FH).

CE-marked for in vitro diagnostic (IVD) use.

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List Prices Documentation

This product has recently been CE-marked for in vitro diagnostic (IVD) use under the In Vitro Diagnostic Regulation (IVDR; EU 2017/746), which replaces the former CE-marking under the IVD Directive (IVDD; Directive 98/79/EC). This update was accompanied by a change in format of the product description. Some information can now be found in a different location (more information).

Intended purpose

The SALSA MLPA Probemix P062 LDLR is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative manual assay for the detection of deletions or duplications in the LDLR gene in genomic DNA isolated from human peripheral whole blood specimens. P062 LDLR is intended to confirm a potential cause for and clinical diagnosis of familial hypercholesterolaemia and for molecular genetic testing of at-risk family members.

For the full intended purpose, see the product description.

Clinical background

The low-density lipoprotein receptor (LDLR) is a cell surface receptor that plays an important role in cholesterol homeostasis. The receptor binds and internalises LDL cholesterol particles by endocytosis. This process takes place in all nucleated cells, but mainly in the liver, which is responsible for ~70% of the total clearance of LDL cholesterol from the circulation.

Familial hypercholesterolaemia (FH) is a disease characterised by significantly elevated LDL cholesterol levels that cause atherosclerotic plaque deposition in arteries, which may lead to coronary artery disease (CAD) or other cardiovascular disease manifestations at an early age. Heterozygous FH is an autosomal dominant disease with a worldwide prevalence of ~1:250 that is caused by pathogenic mutations in the LDLR, APOB or PCSK9 genes. Mutations in LDLR are the most common, with >50% of FH cases caused by pathogenic variants in the LDLR gene. Mutations in APOB and PCSK9 are found in 5-10% and <1% of FH cases, respectively. In the remaining ~40% of FH cases, the underlying genetic defect is unknown. Homozygous FH is much rarer (1:160,000-400,000) and results from biallelic mutations (homozygous or compound heterozygous) in one of the aforementioned genes or one mutation in each of two different genes. Autosomal recessive FH has a prevalence lower than 1:1,000,000 and is caused by biallelic mutations in the LDL-receptor adaptor protein 1 (LDLRAP1) gene. Less than 1% of FH cases are due to mutations in LDLRAP1.

The severity of symptoms is dependent on the type of mutation; complete loss of function variants usually lead to more severe disease. Heterozygous FH patients are at an approximately 20-fold increased risk for CAD, whereas most homozygous FH patients experience severe CAD in their mid-20s and undergo coronary bypass surgery in their teenage years (https://www.ncbi.nlm.nih.gov/books/NBK174884/; Nordestgaard et al. 2013; Raal et al. 2011; Kassner et al. 2014).

Regulatory status

SALSA MLPA Probemix P062 LDLR is IVDR certified for in vitro diagnostic (IVD) use in Europe.

This assay is for research use only (RUO) in all other territories.

Product documentation

Version E1

Version D2

Other versions

Contact us for earlier versions.

Translations and Summary of Safety and Performance

Translations of the product description in selected European languages are available upon request. Please contact us or one of our local sales partners. Translations of the MLPA General Protocol in selected languages are available here.

The Summary of Safety and Performance (SSP) is also available upon request.

List prices

Product

Item no.
Description
Technology
Price
P062-025R
SALSA MLPA Probemix P062 LDLR – 25 rxn
MLPA
€ 286.00
P062-050R
SALSA MLPA Probemix P062 LDLR – 50 rxn
MLPA
€ 560.00
P062-100R
SALSA MLPA Probemix P062 LDLR – 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

Publications

Selected publications using P062 LDLR

  • Chiou KR et al. (2012). Common mutations of familial hypercholesterolemia patients in Taiwan: characteristics and implications of migrations from southeast China. Gene. 498:100-6.
  • Fourgeaud M et al. (2022). Phenotypic and genotypic characterization of familial hypercholesterolemia in French adult and pediatric populations. J Clin Lipidol. 16:298-305.
  • Futema M et al. (2013). Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic. Atherosclerosis. 229:161-8.
  • Gabcová D et al. (2017). The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey. Physiol Res. 66:75-84.
  • Goldmann R et al. (2010). Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia. BMC Med Genet. 11:115.
  • Jannes CE et al. (2015). Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects. Atherosclerosis. 238:101-7.
  • Miyake Y et al. (2009). Update of Japanese common LDLR gene mutations and their phenotypes: Mild type mutation L547V might predominate in the Japanese population. Atherosclerosis. 203:153-60.
  • Pek SLT et al. (2018). Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study. Atherosclerosis. 269:106-16.
  • Setia N et al. (2020). Genetic analysis of familial hypercholesterolemia in Asian Indians: A single-center study. J Clin Lipidol. 14:35-45.
  • Sharifi M et al. (2016). The genetic spectrum of familial hypercholesterolemia in south-eastern Poland. Metabolism. 65:48-53.

References

  • Kassner U et al. (2014). Clinical utility gene card for: hyperlipoproteinemia, TYPE II. Eur J Hum Genet. 22:e1-4.
  • Nordestgaard BG et al. (2013). Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J. 34:3478-90.
  • Raal FJ et al. (2011). Reduction in mortality in subjects with homozygous familial hypercholesterolemia associated with advances in lipid-lowering therapy. Circulation. 124:2202-7.
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CE2797

CE-marked products are for In Vitro Diagnostic (IVD) use only in EU (candidate) member states and members of the European Free Trade Association (EFTA), and the UK.

Improvements

Nine target probes, five reference probes have been replaced, one target probe has been added