SALSA MLPA Probemix P166 KCNQ2 detects copy number variations in the KCNQ2 gene.
Contents: 32 MLPA probes, including 18 probes for KCNQ2 (covering all exons).
Tissue: human genomic DNA.
Application: research on benign familial neonatal convulsion (BFNC).
For research use only (RUO). Not for use in diagnostics.
The SALSA MLPA Probemix P166 KCNQ2 is a research use only (RUO) assay for the detection of deletions or duplications in the KCNQ2 gene, which is associated with Benign familial neonatal convulsion (BFNC).
Benign familial neonatal convulsion (BFNC) is a rare autosomal dominant disorder caused by defects in the KCNQ2 gene. BFNC is also known as benign neonatal epilepsy-1 (EBN1), and characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age.
SALSA MLPA Probemix P166 KCNQ2 is for research use only (RUO) in all territories.
A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).
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.
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.