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P333 EP300

SALSA MLPA Probemix P333 EP300 detect copy number variations in the EP300 gene.

Specifications

Contents: 41 MLPA probes including 31 probes for EP300 (covering all exons), and 1 probe for CREBBP.

Tissue: human genomic DNA.

Application: research on Rubinstein-Taybi syndrome (RSTS).

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

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List Prices Documentation

Key related products

P313 CREBBP

Contains probes for the CREBBP gene.

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General information

The SALSA MLPA Probemix P333 EP300 is a research use only (RUO) assay for the detection of deletions or duplications in the EP300 gene, which is associated with Rubinstein-Taybi syndrome (RSTS).

RSTS is characterised by growth retardation, distinctive facial dysmorphisms, skeletal abnormalities such as broad and often angulated thumbs, and intellectual disability. RSTS is caused by mutations in two genes: EP300, encoding E1A-associated protein p300, and CREBBP, encoding a CREB-binding protein. Approximately, 3-8% of RSTS individuals carry heterozygous mutations in EP300, while pathogenic variants in CREBBP are identified in approximately 50-60% of RSTS patients.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1526/.

Regulatory status

SALSA MLPA Probemix P333 EP300 is for research use only (RUO) in all territories.

Product documentation

Version A4

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P333-025R
SALSA MLPA Probemix P333 EP300 – 25 rxn
MLPA
€ 296.00
P333-050R
SALSA MLPA Probemix P333 EP300 – 50 rxn
MLPA
€ 580.00
P333-100R
SALSA MLPA Probemix P333 EP300 – 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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