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P397 SCN4A-CACNA1S

SALSA MLPA Probemix P397 SCN4A-CACNA1S detects copy number variations in the CACNA1S and SCN4A genes.

Specifications

Contents: 43 MLPA probes, including 13 probes for CACNA1S, and 19 probes for SCN4A.

Tissue: human genomic DNA.

Application: research on hypokalemic periodic paralysis.

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

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List Prices Documentation

Key related products

P137 SCN1A

Contains probes for all 26 coding exons of the SCN1A gene.

P279 CACNA1A

Contains probes for the CACNA1A gene.

P348 ATP1A2-CACNA1A-PRRT2

Contains 17 more probes for the CACNA1A gene, as well as probes for most ATP1A2 exons. All CACNA1A probes in the P348 are different compared to the P279 probes.

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General information

The SALSA MLPA Probemix P397 SCN4A-CACNA1S is a research use only (RUO) assay for the detection of deletions or duplications in the CACNA1S and SCN4A genes, which are associated with hypokalemic periodic paralysis.

The nondystrophic myotonias and primary periodic paralyses are an important group of genetic muscle diseases characterised by dysfunction of ion channels that regulate membrane excitability. Clinical manifestations vary and include myotonia, hyperkalemic, hypokalemic periodic paralysis, progressive myopathy, and cardiac arrhythmias.

Hypokalemic periodic paralysis (HypokalemicPP) is most commonly associated with mutations in CACNA1S gene (type 1 HypokalemicPP), which encodes the α subunit of the voltage-gated calcium channel, Cav1.1 (also known as the skeletal muscle L-type calcium channel, and the dihydropyridine receptor). Cav1.1 in the T-tubular membrane is attached to the ryanodine receptor of the sarcoplasmic reticulum, for which it acts as a voltage sensor. About 10% of hypokalemic periodic paralysis is associated with mutations in SCN4A gene (type 2 HypokalemicPP), which encodes the skeletal muscle sodium channel.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1338/.

Regulatory status

SALSA MLPA Probemix P397 SCN4A-CACNA1S 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
P397-025R
SALSA MLPA Probemix P397 SCN4A-CACNA1S – 25 rxn
MLPA
€ 296.00
P397-050R
SALSA MLPA Probemix P397 SCN4A-CACNA1S – 50 rxn
MLPA
€ 580.00
P397-100R
SALSA MLPA Probemix P397 SCN4A-CACNA1S – 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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