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P016 VHL

SALSA® MLPA® Probemix P016 VHL detects copy number variations in the VHLand BRK1 gene.

Specifications

Contents: 29 MLPA probes, including 9 probes for VHL and 2 probes for BRK1.

Tissue: genomic DNA isolated from human peripheral whole blood.

Application: Von Hippel-Lindau (VHL) disease type I and IB.

IVDR certified and registered for in vitro diagnostic (IVD) use in selected territories.

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List Prices Documentation

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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 P016 VHL is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative manual assay for the detection of deletions in the VHL and BRK1 genes in genomic DNA isolated from human peripheral whole blood specimens. P016 VHL is intended to confirm a potential cause for and clinical diagnosis of Von Hippel-Lindau disease (VHL) type I (deletions in VHL only) and VHL type IB (deletions encompassing both VHL and BRK1). In addition, P016 VHL can be utilised for molecular genetic testing of at-risk family members.

For the full intended purpose, see the product description.

Clinical background

Von Hippel-Lindau (VHL) disease is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar and spinal hemangioblastoma; renal cell carcinoma; pheochromocytoma; and pancreatic tumours. The basis of familial inheritance of VHL disease is a germline mutation in the VHL tumour suppressor gene, located in chromosomal region 3p25.3.

Approximately 80% of individuals with VHL disease inherit a mutation, whereas 20% of individuals have a de novo mutation (GeneReviews). Of the mutations in the VHL gene, 30-60% are missense mutations, 20-40% are large intragenic deletions (0.5 – 250 kb), 12-20% are microdeletions or insertions, and 7-11% are nonsense mutations (Decker et al. 2014).

Several studies have shown that the loss of both VHL and BRK1 (5' to VHL) in VHL patients is associated with a reduced risk of renal cell carcinoma as compared to defects in the VHL gene only (Cascon et al. 2007, Gomy et al. 2010, Maranchie et al. 2004, McNeill et al. 2009), leading to the designation of an entirely separate clinical subtype of the disease (Type IB). This probemix contains two probes that target the BRK1 gene.

Regulatory status

SALSA MLPA Probemix P016 VHL is CE-marked under the IVDR for in vitro diagnostic (IVD) use in Europe. This assay has also been registered for IVD use in Israel.

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

Product documentation

Version C2

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
P016-025R
SALSA MLPA Probemix P016 VHL – 25 rxn
MLPA
€ 286.00
P016-050R
SALSA MLPA Probemix P016 VHL – 50 rxn
MLPA
€ 560.00
P016-100R
SALSA MLPA Probemix P016 VHL – 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.

The commercially available positive samples below have been tested with the current (C2) version of this product and have been shown to produce useful results.

  • Coriell NA10985: Heterozygous deletion affecting the probes for CNTN6, FANCD2, BRK1, VHL, IRAK2 and GHRL.
  • Coriell NA13249: Heterozygous deletion affecting the probes for VHL exon 2-3 and IRAK2.
  • Coriell NA13250: Heterozygous deletion affecting the probes for VHL exon 1-2.
  • Coriell NA13256: Heterozygous deletion affecting the probes for FANCD2, BRK1 and VHL.

Resources

General MLPA resources

MLPA education

Publications

Selected publications using P016 VHL

  • Franke G et al. (2009). Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients. Hum Mutat. 30:776-86.
  • Hes FJ et al. (2007). Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification. Clin Genet. 72:122-9.
  • Huang JS et al. (2007). Associations between VHL genotype and clinical phenotype in familial von Hippel-Lindau disease. Eur J Clin Invest. 37:492-500.
  • McNeill A et al. (2009). Genotype-phenotype correlations in VHL exon deletions. Am J Med Genet A. 149A:2147-51.
  • Tamura K et al. (2023). Variant spectrum of von Hippel-Lindau disease and its genomic heterogeneity in Japan. Hum Mol Genet. 32:2046-54.
  • Vikkath N et al. (2015). Genotype-phenotype analysis of von Hippel-Lindau syndrome in fifteen Indian families. Fam Cancer. 14:585-94.
  • Zhang K et al. (2023). Genotype-phenotype correlations and clinical outcomes of patients with von Hippel-Lindau disease with large deletions. J Med Genet. 60:477-83.

References

  • Cascón A et al. (2007). Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel-Lindau patients. Hum Mutat. 28:613-21.
  • Decker J et al. (2014). Clinical utility gene card for: von Hippel-Lindau (VHL). Eur J Hum Genet. 22.
  • Gomy I et al. (2010). Clinical and molecular characterization of Brazilian families with von Hippel-Lindau disease: a need for delineating genotype-phenotype correlation. Fam Cancer. 9:635-42.
  • Maranchie JK et al. (2004). Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and location. Hum Mutat. 23:40-6.
  • McNeill A et al. (2009). Genotype-phenotype correlations in VHL exon deletions. Am J Med Genet A. 149A:2147-51.
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CE

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.

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.

IL

IVD-registered in Israel.