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P197 KCNQ3

SALSA MLPA Probemix P197 KCNQ3 detects copy number variations in the KCNQ3, CHRNA4, EPM2A, NHLRC1 (EPM2B), KCNQ1 and CHRNB2 genes.

Specifications

Contents: 39 MLPA probes, including 15 probes for the KCNQ3 region, 6 probes for the CHRNA4 region, 4 probes for EPM2A, 2 probes for NHLRC1, 2 probes for CHRNB2, and 2 probes for KCNQ1.

Tissue: human genomic DNA.

Application: research on epilepsy.

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

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List Prices Documentation

Key related products

P114 Long-QT

Contains probes for the KCNQ1 gene.

P137 SCN1A

Contains probes for the SCN1A gene, involved in epilepsy.

P166 KCNQ2

Contains probes for the KCNQ2 gene, involved in benign familial neonatal convulsion (BFNC).

View all

General information

The SALSA MLPA Probemix P197 KCNQ3 is a research use only (RUO) assay for the detection of deletions or duplications in the KCNQ3, CHRNA4, EPM2A, NHLRC1 (also known as EPM2B), and CHRNB2 genes, which are associated with Epilepsy.

Defects in the KCNQ3 gene can cause benign familial neonatal convulsions type 2 (BFNC2) or benign neonatal type 2 (EBN2), which is also known as epilepsy. The KCNQ3 gene comprises 15 exons and spans ~360 kb of genomic DNA on chromosome 8q24.22. The CHRNA4 gene comprises 6 exons spanning ~18 kb of genomic DNA on chromosome 20q13.33. Mutations in this gene appear to account for a small proportion of the cases of nocturnal frontal lobe epilepsy. Mutations in the EPM2A gene have been associated with myoclonic epilepsy of Lafora. The EPM2A gene encodes the laforin protein, comprises 4 exons, and spans ~111 kb of genomic DNA on chromosome 6q24.3. The NHLRC1 (EPM2B) gene encoding the malin protein, comprises 1 exon and spans ~1.2 kb of genomic DNA on chromosome 6p22.3. Mutations in NHLRC1 cause progressive myoclonus epilepsy and are also associated with autosomal dominant nocturnal frontal lobe epilepsy. The CHRNB2 gene comprises 6 exons spanning ~12.2 kb of genomic DNA on chromosome 1q21.3. Finally, the KCNQ1 gene comprises 17 exons and spans ~404 kb of genomic DNA on chromosome 11p15.5- 4.

Regulatory status

SALSA MLPA Probemix P197 KCNQ3 is for research use only (RUO) in all territories.

Product documentation

Version A4

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P197-025R
SALSA MLPA Probemix P197 KCNQ3 – 25 rxn
MLPA
€ 286.00
P197-050R
SALSA MLPA Probemix P197 KCNQ3 – 50 rxn
MLPA
€ 560.00
P197-100R
SALSA MLPA Probemix P197 KCNQ3 – 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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