Choose your country to see the products for your location

P350 CLCN1-KCNJ2

SALSA MLPA Probemix P350 CLCN1-KCNJ2 detects copy number variations in the CLCN1 and KCNJ2 genes.

Specifications

Contents: 39 MLPA probes, including 24 probes for CLCN1 and 5 probes for KCNJ2 (covering all exons of both genes).

Tissue: human genomic DNA.

Application: research on Becker disease, Thomsen disease, and Andersen-Tawil syndrome (ATS).

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

Quick links

List Prices Documentation

Key related products

P114 Long-QT

Contains probes for the KNCQ1, KCNH2, KCNE1 and KCNE2 genes, involved in Congenital long QT syndrome.

P397 SCN4A-CACNA1S

Contains probes for the SCN4A and CACNA1S genes, involved in hypokalemic periodic paralysis.

View all

General information

The SALSA MLPA Probemix P350 CLCN1-KCNJ2 is a research use only (RUO) assay for the detection of deletions or duplications in the CLCN1 and KCNJ2 genes, which are associated with Becker disease, Thomsen disease, and Andersen-Tawil syndrome (ATS).

Myotonia congenita is characterised by muscle stiffness and delayed relaxation after muscle contraction (myotonia). Myotonia congenita is inherited in either an autosomal recessive (Becker disease) or an autosomal dominant manner (Thomsen disease). Thomsen disease is less common and less severe than Becker disease. Defects in the CLCN1 gene on chromosome 7 are the main cause of myotonia congenita. The protein encoded by this gene is a chloride voltage-gated channel, important in controlling the influx of chloride ions into skeletal muscle cells.

ATS is an autosomal dominant multisystem channelopathy characterised by periodic paralysis, ventricular arrhythmias and dysmorphic facial or skeletal features. Defects in the KCNJ2 gene on chromosome 17 are the main cause of ATS. The protein encoded by this gene is inward rectifier potassium channel 2 (Kir2.1), important in controlling the (in)flux of potassium ions into skeletal and cardiac muscle cells.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1355/ and https://www.ncbi.nlm.nih.gov/books/NBK1264/.

Regulatory status

SALSA MLPA Probemix P350 CLCN1-KCNJ2 is for research use only (RUO) in all territories.

Product documentation

Version C1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P350-025R
SALSA MLPA Probemix P350 CLCN1-KCNJ2 – 25 rxn
MLPA
€ 286.00
P350-050R
SALSA MLPA Probemix P350 CLCN1-KCNJ2 – 50 rxn
MLPA
€ 560.00
P350-100R
SALSA MLPA Probemix P350 CLCN1-KCNJ2 – 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

This site uses cookies to help improve your online experience. Learn more
No, thank you accept

Sign in

Don't have an account? Create one

Forgot password?

Select Your Country

Choose your country to see the products for your location