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SALSA MLPA Probemix P093 HHT/HPAH

SALSA® MLPA® Probemix P093 HHT/HPAH detects copy number variations in the ENG, ACVRL1 and BMPR2 genes.

Specifications

Contents: 51 MLPA probes, including 14 probes for BMPR2, 11 probes for ACVRL1 and 18 probes for ENG.

Tissue: genomic DNA isolated from human peripheral whole blood.

Application: hereditary hemorrhagic telangiectasia (HHT) or heritable pulmonary arterial hypertension (HPAH).

CE-marked and registered for in vitro diagnostic (IVD) use in selected territories.

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List Prices Documentation

Key related products

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Contains probes for the SMAD4, BMPR1A and PTEN genes.

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Intended purpose

The SALSA MLPA Probemix P093 HHT/HPAH is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for the detection of deletions or duplications in the ENG, ACVRL1 and BMPR2 genes in genomic DNA isolated from human peripheral whole blood specimens. P093 HHT/HPAH is intended to confirm a potential cause for and clinical diagnosis of Hereditary Hemorrhagic Telangiectasia (HHT) or Heritable Pulmonary Arterial Hypertension (HPAH) and for molecular genetic testing of at-risk family members.

For the full intended purpose, see the product description.

Clinical background

Hereditary Hemorrhagic Telangiectasia (HHT) is a disease with an autosomal dominant inheritance pattern and is characterized by the presence of multiple arteriovenous malformations (AVM). In AVMs, arteries connect directly to veins instead of through intervening capillaries, resulting in high blood pressure. AVMs occur on the skin, but also in the brain, lungs, liver and intestines. Depending on the location, rupture of these malformations can have catastrophic consequences for the patient. Diagnosis is based on the presence of multiple AVM in the skin, mucus membranes, or visceral organs. Recurrent nosebleeds are also a common finding in HHT patients. Molecular genetic testing is performed to confirm or establish a diagnosis in a proband. HHT is primarily caused by pathogenic variations in the genes endoglin (ENG/HHT1) and activin A receptor like type 1 (ACVRL1/HHT2). Both genes encode endothelial cell surface receptors that are part of a TGF-β/BMP signalling cascade, a pathway involved in angiogenesis, among multiple other developmental processes. Up to 10% of pathogenic variation consists of large deletions/duplications. More information is available at: https://www.ncbi.nlm.nih.gov/books/NBK1351/.

Heritable Pulmonary Arterial Hypertension (HPAH) is inherited in an autosomal dominant manner. This disease is caused by loss or obstruction of the smallest pulmonary arteries, resulting in high blood pressure in the arteries of the lung. Diagnosis is based on the presence of pulmonary hypertension as confirmed through right heart catheterization, and subsequently by identification of a heterozygous pathogenic variant in a known associated gene (simplex cases) and/or confirmation of Pulmonary Arterial Hypertension (PAH) in one or more of the proband’s family members. Up to 75% of HPAH is caused by variation in the bone morphogenetic protein receptor type 2 (BMPR2) gene. Of this, 12-37% is caused by large duplications/deletions. Similar to ENG and ACVRL1, the BMPR2 gene also encodes a cell surface receptor that is part of the TGF-β/BMP signalling pathway. Sporadically, PAH is observed as a symptom of HHT. The biological similarities between the causative genes suggests a similar aetiology between HPAH and HHT. This is supported by rare observations of mutations in ACVRL1, and even more infrequent in ENG, causing HPAH. In the literature, a patient has been described with a combined PAH and HHT phenotype carrying a deletion of exons 6 and 7 in BMPR2 (Handa et al. 2014). In very rare cases, HPAH can be caused by mutations in the KCNK3, SMAD9 or CAV1 gene. To the best of our knowledge, no HPAH causing deletions or duplications have been reported in these genes. More information is available at: https://www.ncbi.nlm.nih.gov/books/NBK1485/.

Regulatory status

SALSA MLPA Probemix P093 HHT/HPAH is CE-marked for in vitro diagnostic (IVD) use. 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.

List prices

Product

Item no.
Description
Technology
Price
P093-025R
SALSA MLPA Probemix P093 HHT/HPAH – 25 rxn
MLPA
€ 281.00
P093-050R
SALSA MLPA Probemix P093 HHT/HPAH – 50 rxn
MLPA
€ 550.00
P093-100R
SALSA MLPA Probemix P093 HHT/HPAH – 100 rxn
MLPA
€ 1075.00

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
€ 341.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 341.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1571.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1571.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6037.00
How to Order

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.

See this support article for commercially available positive samples that have been tested with this product.

Resources

General resources

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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.

IL

IVD-registered in Israel.