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SALSA MLPA Probemix P397 SCN4A-CACNA1S

Hypokalemic periodic paralysis (HypoPP); Nondystrophic myotonias and primary periodic paralyses

Region: CACNA1S 1q32.1; SCN4A 17q23.3

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/.

Probemix content: The SALSA MLPA Probemix P397-A3 SCN4A-CACNA1S contains 43 MLPA probes with amplification products between 131 and 490 nucleotides (nt). This includes 13 probes for the CACNA1S gene, targeting 13 out of 44 exons of the gene, and 19 probes for the SCN4A gene, targeting 19 out of 24 exons of the gene. In addition, eleven reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (www.mlpa.com).

This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mlpa.com.

Order Items

Probemix

Item no.
Description
Technology
Price
P397-025R
SALSA MLPA Probemix P397 SCN4A-CACNA1S – 25 rxn
€ 281.00
P397-050R
SALSA MLPA Probemix P397 SCN4A-CACNA1S – 50 rxn
€ 550.00
P397-100R
SALSA MLPA Probemix P397 SCN4A-CACNA1S – 100 rxn
€ 1075.00

Required Reagents (Sold Separately)

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
€ 341.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
€ 341.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
€ 1571.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
€ 1571.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
€ 6037.00

Related Products

SALSA MLPA Probemix P137 SCN1A

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

SALSA MLPA Probemix P279 CACNA1A

Contains probes for the CACNA1A gene.

SALSA MLPA Probemix 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.

SALSA MLPA Probemix P350 CLCN1-KCNJ2

Contains probes for the CLCN1 gene, involved in myotonia congenita.

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