SALSA MLPA P469 F5 probemix

application: Factor V deficiency
region: F5 1q24.2
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version: A1
sold since: 2017-02-08

item no. description price
P469-025R SALSA MLPA P469 F5 probemix – 25 rxn € 237
P469-050R SALSA MLPA P469 F5 probemix – 50 rxn € 474
P469-100R SALSA MLPA P469 F5 probemix – 100 rxn € 948
EK1-FAM SALSA MLPA EK1 reagent kit – 100 rxn - FAM € 294
EK1-Cy5 SALSA MLPA EK1 reagent kit – 100 rxn - Cy5 € 294
EK5-FAM SALSA MLPA EK5 reagent kit – 500 rxn - FAM € 1355
EK5-Cy5 SALSA MLPA EK5 reagent kit – 500 rxn - Cy5 € 1355

Please note that both a probemix and reagent kit are needed to perform MLPA.

description
Mutations in the F5 gene have been found to cause a rare bleeding disorder called factor V deficiency. These mutations prevent the production of functional coagulation factor V or significantly reduce the amount of the protein in the bloodstream. People with this condition typically have less than 10 percent of normal levels of coagulation factor V in their blood; the most severely affected individuals have less than 1 percent. A reduced amount of functional factor V prevents blood from clotting normally, causing episodes of abnormal bleeding that can be severe. Factor V deficiency results from mutations in both copies of the F5 gene, although some people with a mutation in a single copy of the gene have mild bleeding problems. Heterozygous defects in the F5 gene are also associated with two- to threefold increase in relative risk for pregnancy loss, and possibly other pregnancy complications such as preeclampsia, fetal growth retardation and placental abruption.

The F5 gene (25 exons) spans ~75 kb of genomic DNA is located on 1q24.2, 170 Mb from the p-telomere. The P469-A1 probemix contains one probe for each exon of the gene and three probes for exon 25, with the exception of exon 2.

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned gene(s) in a DNA sample. Heterozygous deletions of recognition sequences should give a 35-50% reduced relative peak height 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 height, 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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product history
version A1: changes not specified
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