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SALSA MLPA Probemix P114 Long-QT

SALSA® MLPA® Probemix P114 Long-QT detects copy number variations in the KCNQ1, KCNH2, KCNE1, KCNE2 and KCNJ2 genes.

Specifications

Contents: 52 MLPA probes, including 18 probes for KCNQ1, 16 probes for KCNH2, 3 probes for KCNJ2, 4 probes for KCNE1 and 2 probes for KCNE2.

Tissue: genomic DNA isolated from human peripheral whole blood.

Application: congenital Long-QT syndrome (LQTS) types 1, 2, 5, 6 and 7 and Jervell Lange-Nielsen syndrome (JLNS).

CE-marked for in vitro diagnostic (IVD) use.

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Key related products

SALSA MLPA Probemix ME030 BWS/RSS

Contains probes for the KCNQ1 gene located in the 11p15 BWS/RSS locus.

SALSA MLPA Probemix P108 SCN5A

Contains probes for the SCN5A gene.

SALSA MLPA Probemix P350 CLCN1-KCNJ2

Contains five probes for KCNJ2, three of which target the same sequences as the KCNJ2 probes in P114-C1.

View all

Intended purpose

The SALSA MLPA Probemix P114 Long-QT is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for the detection of deletions or duplications in the KCNQ1, KCNH2, KCNE1, KCNE2 and KCNJ2 genes in order to confirm a potential cause for and clinical diagnosis of congenital Long-QT syndrome (LQTS) types, 1, 2, 5, 6 and 7, respectively. In addition, this probemix can be used to confirm a potential cause for and clinical diagnosis of Jervell Lange-Nielsen syndrome (JLNS); a recessive form of LQTS associated with mutations in KCNQ1 or KCNE1. P114 Long-QT can also be used for molecular genetic testing of at-risk family members. This assay is for use with human DNA extracted from peripheral whole blood specimens.

For the full intended purpose, see the product description.

Clinical background

Congenital Long-QT Syndrome (LQTS) is a hereditary disease that predisposes patients to cardiac arrhythmias, which can result in recurrent syncopes, seizure and sudden death. LQTS patients are electrocardiographically characterized by a prolonged QT interval resulting in a predisposition to develop the ventricular tachycardia torsade de pointes. The cumulative mortality is 6-8% before the age of 40, and therefore it is a leading cause of sudden death in young people. LQTS occurs in an estimated 1:2500 live births and is generally caused by mutations in cardiac sodium or potassium channel genes which result in the prolongation of the ventricular action potential. LQTS can be diagnosed based on prolonged QT intervals and/or abnormal T-waves in an ECG. There are presently 15 types of LQTS known, each linked to a distinct gene. The most common causes of LQTS are mutations in the genes KCNQ1, KCNH2, and SCN5A. Generally, LQTS is inherited in an autosomal dominant fashion but some exceptions are discussed below. LQTS is also referred to as Romano-Ward syndrome (RWS).

40-55% of LQTS patients have type 1; an autosomal dominant disease caused by defects in the KCNQ1 gene. Mutations in KCNQ1 are not only associated with long QT syndrome: homozygous or compound heterozygous mutations in KCNQ1 are associated with the recessive disorder Jervell and Lange-Nielsen syndrome (JLNS). Patients with JLNS present a much more severe phenotype. They have more extended long-QT intervals and suffer from sensorineural hearing loss. 50% of patients with this syndrome have cardiac events before the age of three and more than half of untreated children die before the age of 15.

30-45% of LQTS patients have LQTS type 2, which is also autosomal dominant and caused by defects in the KCNH2 gene. <1% of LQTS patients have type 5 which is associated with KCNE1; and ~1% have type 6, which is associated with KCNE2. Both types are autosomal dominant traits. KCNE1 and KCNE2 are located closely together on chromosome 21q22. As of yet, no exon CNVs or whole gene deletions/duplications of KCNE1 and KCNE2 have been found in LQTS patients (Williams et al. 2015). Like KCNQ1, homozygous or compound heterozygous mutations in KCNE1 are associated with JLNS. LQTS type 7, also autosomal dominant, is associated with mutations in KCNJ2. Less than 1% of LQTS patients have this type, but there is evidence that CNVs of KCNJ2 occur in LQTS patients (Marquis-Nicholson et al. 2014). LQTS type 7 is also known as Andersen-Tawil syndrome. Besides a long-QT interval and ventricular arrhythmias, these patients experience periodic paralysis due to flaccid muscle weakness and can have a variety of congenital or developmental abnormalities including low-set ears, widely spaced eyes, small mandible, fifth-digit clinodactyly, syndactyly, short stature, scoliosis and in some cases mental retardation.

Notably, 5-10% of LQTS patients have type 3, which is associated with gain-of-function variants of the SCN5A gene. All known gain-of-function mutations are point mutations, which cannot be detected with MLPA. Because CNVs in SCN5A are not expected to cause LQTS, no probes for this gene are included in this probemix. Loss-of-function variants in SCN5A result in a different disease: Brugada syndrome, for which the SALSA MLPA Probemix P108 is available.

More information on LQTS can be found here: https://www.ncbi.nlm.nih.gov/books/NBK1129/.

Regulatory status

SALSA MLPA Probemix P114 Long-QT is CE-marked for in vitro diagnostic (IVD) use.

This assay is for research use only (RUO) in all other territories.

Product documentation

Version C1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P114-025R
SALSA MLPA Probemix P114 Long-QT – 25 rxn
MLPA
€ 281.00
P114-050R
SALSA MLPA Probemix P114 Long-QT – 50 rxn
MLPA
€ 550.00
P114-100R
SALSA MLPA Probemix P114 Long-QT – 100 rxn
MLPA
€ 1075.00

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
€ 341.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 341.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1571.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1571.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6037.00

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.

The commercially available positive samples below have been tested with the current (C1) version of this product and have been shown to produce useful results.

KCNE1 & KCNE2

  • Coriell NA13031: Heterozygous duplication affecting the probes for KCNE1 and KCNE2.

KCNH2

  • Coriell NA01220: Heterozygous duplication affecting the probes for KCNH2.
  • Coriell NA07412: Heterozygous deletion affecting the probes for KCNH2.
  • Coriell NA08808: Heterozygous deletion affecting the probes for KCNH2.
  • Coriell NA12519: Homozygous duplication or heterozygous triplication affecting the probes for KCNH2.

KCNQ1

Resources

General MLPA resources

MLPA education

Publications

References

  • Marquis-Nicholson R et al. (2014). Array comparative genomic hybridization identifies a heterozygous deletion of the entire KCNJ2 gene as a cause of sudden cardiac death. Circ Cardiovasc Genet. 7:17-22.
  • Williams VS et al. (2015). Multiplex ligation-dependent probe amplification copy number variant analysis in patients with acquired long QT syndrome. Europace. 17:635-41.
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CE

CE-marked products are for In Vitro Diagnostic (IVD) use only in EU (candidate) member states and members of the European Free Trade Association (EFTA), and the UK.