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P215 EXT

SALSA MLPA Probemix P215 EXT detects copy number variations in the EXT1 and EXT2 genes.

Specifications

Contents: 37 MLPA probes, including 13 probes for EXT1, and 16 probes for EXT2 (covering all exons of both genes).

Tissue: human genomic DNA.

Application: research on multiple osteochondromas (MO).

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

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List Prices Documentation

General information

The SALSA MLPA Probemix P215 EXT is a research use only (RUO) assay for the detection of deletions or duplications in the EXT1 and EXT2 genes, which are associated with Multiple Osteochondromas (MO). MO, also known as hereditary multiple exostoses, is inherited in an autosomal dominant manner. It is characterised by the development of multiple cartilage capped bony outgrowths, (mostly) on the metaphyses of the long bones, predominantly around the knee. Flat bones may also be affected, whereas facial bones usually remain unaffected. Osteochondromas are benign lesions with a risk of malignant transformation. Defects in the EXT1 and EXT2 genes on chromosomes 8 and 11, respectively, are the main cause of MO. These genes appear to function as tumour suppressor genes. The proteins encoded by the EXT1 and EXT2 genes are exostosin glycosyltransferases, involved in the chain elongation step of heparan sulfate biosynthesis in the Golgi apparatus. EXT1 and EXT2 have also been associated with other diseases. Langer-Giedion syndrome is caused by the deletion or mutation of at least two genes: EXT1 and TRPS1. The loss of EXT1 causes the multiple exostoses seen in people with Langer-Giedion syndrome. Potocki-Shaffer syndrome is caused by a deletion at the short arm of chromosome 11 resulting in, amongst others, the deletion of the EXT2 gene. The loss of EXT2 is responsible for multiple exostoses in these patients.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1235/.

Regulatory status

SALSA MLPA Probemix P215 EXT is for research use only (RUO) in all territories.

Product documentation

Version B4

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P215-025R
SALSA MLPA Probemix P215 EXT – 25 rxn
MLPA
€ 296.00
P215-050R
SALSA MLPA Probemix P215 EXT – 50 rxn
MLPA
€ 580.00
P215-100R
SALSA MLPA Probemix P215 EXT – 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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