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P313 CREBBP

SALSA MLPA Probemix P313 CREBBP detects copy number variations in the CREBBP and EP300 genes.

Specifications

Contents: 46 MLPA probes including 34 CREBBP (covering all exons) and 3 probes for EP300.

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

P333 EP300

Contains probes for the EP300 gene.

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General information

The SALSA MLPA Probemix P313 CREBBP is a research use only (RUO) assay for the detection of copy number variations in the CREBBP and EP300 genes, which are associated with Rubinstein-Taybi syndrome (RSTS; OMIM 180849).

RSTS is a well-defined multiple congenital anomalies / intellectual disability syndrome characterised by postnatal growth deficiency, microcephaly, specific facial characteristics, broad thumbs and big toes, and intellectual disability. It occurs generally sporadic, and can be caused by a microdeletion of chromosome 16p13.3, or by a mutation in either CREB-binding protein (CREBBP) or the E1A-binding protein (EP300). Birth prevalence is 1 in 100.000–125.000.

Most individuals with RSTS have point mutations in the CREBBP or the EP300 gene, most of which will not be detected by the MLPA technique. Partial or complete deletions and duplications of the CREBBP gene have also been described (Roelfsema et al. 2005). Please note that this P313 probemix is different from the probemix that was used by Roelfsema et al.

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

Regulatory status

SALSA MLPA Probemix P313 CREBBP is for research use only (RUO) in all territories.

Product documentation

Version B3

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P313-025R
SALSA MLPA Probemix P313 CREBBP – 25 rxn
MLPA
€ 296.00
P313-050R
SALSA MLPA Probemix P313 CREBBP – 50 rxn
MLPA
€ 580.00
P313-100R
SALSA MLPA Probemix P313 CREBBP – 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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