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SALSA MLPA Probemix P166 KCNQ2

KCNQ2-related benign familial neonatal epilepsy (KCNQ2-BFNE); KCNQ2-related neonatal epileptic encephalopathy (KCNQ2-NEE)

Region: KCNQ2 20q13.33

General Information: 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.

Probemix content: The SALSA MLPA Probemix P166-C2 KCNQ2 contains 32 MLPA probes with amplification products between 130 and 391 nt. This includes 18 probes for the KCNQ2 gene, one probe for each exon of the gene. Furthermore, it also contains three probes upstream of the KCNQ2 gene and one probe downstream of the KCNQ2 gene. In addition, ten reference probes are included and detect ten different autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes is available online (www.mlpa.com).

This Probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity Fragments (Q-fragments), two DNA Denaturation Fragments (D-fragments), one benchmark fragment, and one chromosome X and one chromosome Y-specific fragment (see the Product Description). More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mlpa.com.

Order Items

Probemix

Item no.
Description
Technology
Price
P166-025R
SALSA MLPA Probemix P166 KCNQ2 – 25 rxn
€ 243.00
P166-050R
SALSA MLPA Probemix P166 KCNQ2 – 50 rxn
€ 486.00
P166-100R
SALSA MLPA Probemix P166 KCNQ2 – 100 rxn
€ 972.00

Required Reagents

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA EK1 reagent kit – 100 rxn – FAM
€ 300.00
EK1-Cy5
SALSA MLPA EK1 reagent kit – 100 rxn – Cy5
€ 300.00
EK5-FAM
SALSA MLPA EK5 reagent kit – 500 rxn – FAM
€ 1380.00
EK5-Cy5
SALSA MLPA EK5 reagent kit – 500 rxn – Cy5
€ 1380.00
EK20-FAM
SALSA MLPA EK20 reagent kit – 2000 rxn – FAM
€ 5295.00

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