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P326 LARGE1

SALSA MLPA Probemix P326 LARGE1 detects copy number variations in the LARGE, FKTN and POMT2 genes.

Specifications

Contents: 55 MLPA probes, including 30 probes for LARGE1, 6 probes for FKTN, and 9 probes for POMT2.

Tissue: human genomic DNA.

Application: research on dystroglycanopathies.

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

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List Prices Documentation

Key related products

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Contains probes for the LMNA, MYOT, ZMPSTE24 and CAV3 genes, involved in laminopathies.

P116 SGC

Contains probes for the SGCA, SGCB, SGCD, SGCG and FKRP genes involved in LGMD2D, 2E, 2F, 2C, and 2I.

P176 CAPN3

Contains probes for the CAPN3 gene, involved in LGMD2A.

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General information

The SALSA MLPA Probemix P326 LARGE1 is a research use only (RUO) assay for the detection of deletions or duplications in the LARGE1, FKTN and POMT2 genes. Defects in these genes are associated with forms of congenital or limb-girdle muscular dystrophy in which obstruction of O-linked glycosylation is cause of disease, collectively referred to as dystroglycanopathies (Martin 2005). Dystroglycanopathies are autosomal recessive disorders and include Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama congenital muscular dystrophy, congenital muscular dystrophy 1C and 1D, and limb girdle muscular dystrophy 2I. Mutations in the FKTN gene may also result in dilated cardiomyopathy without muscular dystrophic features (Murakami et al. 2006).

Although point mutations may be a more common cause of gene disfunction, intragenic deletions have been reported for LARGE1 (van Reeuwijk et al. 2007), FKTN (Hobbiebrunken et al. 2016) and POMT2 (Yanagisawa et al. 2009).

More information on LARGE1 is available at https://www.omim.org/entry/603590. More information on FKTN is available at https://www.omim.org/entry/607440. More information on POMT2 is available at https://www.omim.org/entry/607439.

Regulatory status

SALSA MLPA Probemix P326 LARGE1 is for research use only (RUO) in all territories.

Product documentation

Version B2

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P326-025R
SALSA MLPA Probemix P326 LARGE1 – 25 rxn
MLPA
€ 296.00
P326-050R
SALSA MLPA Probemix P326 LARGE1 – 50 rxn
MLPA
€ 580.00
P326-100R
SALSA MLPA Probemix P326 LARGE1 – 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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