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P498 CSTB

SALSA MLPA Probemix P498 CSTB detects copy number variations in the CSTB gene.

Specifications

Contents: 15 MLPA probes, including 5 probes for CSTB (covering all exons).

Tissue: human genomic DNA.

Application: research on Unverricht-Lundborg disease (progressive myoclonic epilepsy type 1; EPM1).

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

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List Prices Documentation

Key related products

P197 KCNQ3

Targets EPM2A and NHLRC1 (EPM2B), involved in Lafora disease (progressive myoclonic epilepsy type 2; EPM2), and KCNQ3, CHRNA4, KCNQ1 and CHRNB2, involved in other forms of epilepsy.

P470 NCL

Targets PPT1, TPP1, CLN3, CLN6 and CLN8, involved in neuronal ceroid lipofuscinosis (NCLs), of which progressive myoclonic epilepsy may be a clinical feature.

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General information

SALSA MLPA Probemix P498 CSTB is a research use only (RUO) assay for the detection of deletions or duplications in the CSTB gene, which is associated with Unverricht-Lundborg disease, also known as Progressive Myoclonic Epilepsy Type 1 (EPM1).

EPM1 is an autosomal recessive neurodegenerative disorder and the most common single cause of progressive myoclonus epilepsy worldwide. Mutations in the CSTB gene encoding cystatin B, a cysteine protease inhibitor, are responsible for the primary defect underlying EPM1. Virtually all affected individuals have an unstable dodecamer repeat expansion in one or both of the CSTB alleles (Kälviäinen et al. 2008).

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1142/.

Regulatory status

SALSA MLPA Probemix P498 CSTB is for research use only (RUO) in all territories.

Product documentation

Version A1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P498-025R
SALSA MLPA Probemix P498 CSTB – 25 rxn
MLPA
€ 296.00
P498-050R
SALSA MLPA Probemix P498 CSTB – 50 rxn
MLPA
€ 580.00
P498-100R
SALSA MLPA Probemix P498 CSTB – 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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