SALSA MLPA P166 KCNQ2 probemix - 50 reactions

SALSA MLPA P166 KCNQ2 probemix - 50 reactions

application: Benign familial neonatal convulsion (BFNC)
region: KCNQ2 20q13.33 Detailní informace

Cena s DPH € 573.54
Cena bez DPH € 474.00
 50 react
Dostupnost Skladem
Kód produktu P166-050R

Nejnovější informace o produktu naleznete exklusivně na stránkách výrobce MRC-Holland www.mlpa.com (nové okno)

Detailní popis SALSA MLPA P166 KCNQ2 probemix - 50 reactions

P166-050R SALSA MLPA P166 KCNQ2 probemix – 50 rxn

Benign familial neonatal convulsion (BFNC) is a rare autosomal dominant disorder caused by mutations in the KCNQ2 gene. The disease is also known as benign neonatal epilepsy-1 (EBN1). BFNC is characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age.

The KCNQ2 gene (17 exons), spans more than 70 kb of genomic DNA and is located on chromosome 20q13.33, 62 Mb from the p-telomere. The P166-C1 KCNQ2 probemix contains one probe for each exon of the gene. This probemix furthermore contains three probes in genes just upstream of KCNQ1 gene and one probe downstream of KCNQ2. In addition, 10 reference probes are included in this probemix, detecting several different autosomal chromosomal locations.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences of the aforementioned genes in a DNA sample. Heterozygous deletions of recognition sequences should give a 35-50% reduced relative peak area of the amplification product of that probe. Note that a mutation or polymorphism in the sequence detected by a probe can also cause a reduction in relative peak area, even when not located exactly on the ligation site! In addition, some probe signals are more sensitive to sample purity and small changes in experimental conditions. Therefore, deletions and duplications detected by MLPA should always be confirmed by other methods. Not all deletions and duplications detected by MLPA will be pathogenic; users should always verify the latest scientific literature when interpreting their findings. We have no information on what percentage of defects in these genes is caused by deletions/duplications of complete exons. Finally, note that most defects in this gene are expected to be small (point) mutations which will not be detected by this SALSA® MLPA® test.

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