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P409 RASA1-EPHB4

SALSA MLPA Probemix P409 RASA1-EPHB4 detects copy number variations in the RASA1 and EPHB4 genes.

Specifications

Contents: 50 MLPA probes, including 26 probes for RASA1 (covering all exons), and 16 probes for EPHB4.

Tissue: human genomic DNA.

Application: research on capillary malformation-arteriovenous malformation (CM-AVM) syndrome.

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

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List Prices Documentation

General information

The SALSA MLPA Probemix P409 RASA1-EPHB4 is a research use only (RUO) assay for the detection of deletions or duplications in the RASA1 and EPHB4 genes, which are associated with capillary malformation-arteriovenous malformation (CM-AVM) syndrome.

CM-AVM syndrome is a disorder of the vascular system that is characterised by multiple cutaneous capillary malformations (CMs) that are mostly found on the face, arms and legs. Some affected individuals also have one or more arteriovenous malformations (AVMs) and/or arteriovenous fistulas (AVFs), fast-flow vascular malformations that typically arise in the skin, muscle, bone, spine and brain. Depending on their location in the body, these abnormalities could lead to life-threatening complications including haemorrhage and heart failure. The presence of AVMs/AVFs can also cause soft tissue and skeletal hypertrophy, resulting in limb overgrowth. This phenotype of CM-AVM syndrome is called Parkes Weber syndrome.

CM-AVM is an autosomal-dominant disease that is caused by mutations in the RASA1 and EPHB4 genes (Eerola et al. 2003; Amyere et al. 2017). The RASA1 gene encodes Ras GTPase-activating protein 1, a protein involved in a wide variety of processes including regulation of cellular differentiation and proliferation, and cytoskeletal reorganisation. Ras GTPase-activating protein 1 is thought to have an important function in the development of the vascular system. The RASA1 gene (25 exons) spans ~124 kb of genomic DNA and is located on chromosome 5q14.3, about 87 Mb from the p-telomere. The EPHB4 gene encodes the ephrin type-B receptor 4, a transmembrane receptor that is expressed in venous endothelial cells during vascular development. Mutations in EPHB4 hamper EPHB4-EphrinB2 signalling, which leads to abnormal differentiation of endothelial cells and disorganized vascular development. The EPHB4 gene (17 exons) spans ~25 kb of genomic DNA and is located on chromosome 7q22.1, about 100 Mb from the p-telomere.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK52764/.

Regulatory status

SALSA MLPA Probemix P409 RASA1-EPHB4 is for research use only (RUO) in all territories.

Product documentation

Version B1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P409-025R
SALSA MLPA Probemix P409 RASA1-EPHB4 – 25 rxn
MLPA
€ 296.00
P409-050R
SALSA MLPA Probemix P409 RASA1-EPHB4 – 50 rxn
MLPA
€ 580.00
P409-100R
SALSA MLPA Probemix P409 RASA1-EPHB4 – 100 rxn
MLPA
€ 1135.00

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
€ 361.00
EK1-CY5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 361.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK5-CY5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6373.00

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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