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P268 DYSF

SALSA MLPA Probemix P268 DYSF detects copy number variations in the DYSF gene.

Specifications

Contents: 48 MLPA probes, including 40 probes for DYSF.

Tissue: human genomic DNA.

Application: research on limb-girdle muscular dystrophy type 2B (LGMD2B).

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.

P061 Lissencephaly

Contains probes for the POMT1 and POMGNT1 genes involved in LGMD2K and LGMD2O, respectively.

P116 SGC

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

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General information

The SALSA MLPA Probemix P268 DYSF is a research use only (RUO) assay for the detection of deletions or duplications in the DYSF gene, which is associated with limb-girdle muscular dystrophy type 2B (LGMD2B).

Limb-girdle muscular dystrophies (LGMD) are a group of phenotypically and genotypically heterogeneous disorders, characterised by progressive weakness and atrophy of the muscles of the pelvic and shoulder girdle. Mutations of the Dysferlin gene (DYSF) are the cause of LGMD2B or dysferlinopathy. Patients with LGMD2B have symmetrical and selective involvement of proximal limb-girdle muscles. The disease shows wide intra- and interfamilial clinical variability. The age at onset ranges from 2 to 40 years, but the disease usually first appears in the second or third decade of life, with the development of proximal weakness in the lower limbs. Mutations in DYSF result in a cascade of events leading eventually to muscular dystrophy. The precise underlying mechanisms have yet to be elucidated.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1303/.

Regulatory status

SALSA MLPA Probemix P268 DYSF is for research use only (RUO) in all territories.

Product documentation

Version A3

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P268-025R
SALSA MLPA Probemix P268 DYSF – 25 rxn
MLPA
€ 286.00
P268-050R
SALSA MLPA Probemix P268 DYSF – 50 rxn
MLPA
€ 560.00
P268-100R
SALSA MLPA Probemix P268 DYSF – 100 rxn
MLPA
€ 1096.00

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
€ 348.00
EK1-CY5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 348.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK5-CY5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6152.00

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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