SALSA MLPA P296 aHUS probemix - 100 reactions

SALSA MLPA P296 aHUS probemix - 100 reactions

Hemolytic uremic syndrome, atypical (aHUS).

region: CFH 4q25 Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P296-100R

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

Detailní popis SALSA MLPA P296 aHUS probemix - 100 reactions

P296-025R SALSA MLPA P296 aHUS probemix – 100 rxn

description
Atypical hemolytic uremic syndrome (aHUS) is characterised by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells'). The vast majority of the cases (90%) is sporadic, occurring in children under 3 years of age, and is associated with epidemics of diarrhea caused by verotoxin-producing E. coli.

aHUS can be caused by mutations in several genes including complement factor H (CFH), membrane cofactor protein CD46 (MCP), or complement factor I (CFI). The CD46 gene comprises 14 exons, spans about 43 kb of genomic DNA and is located at chromosome 1q32.2, 208 Mb from the p-telomere. The CFI gene comprises 13 exons, spans about 61 kb of genomic DNA and is located at chromosome 4q25, 111 Mb from the p-telomere. The P296-A2 probemix contains one probe of each exon of the CFI gene with the exception of exon 7 and 8 and one probe of each exon of the CD46 gene with the exception of exon 4. In addition, 11 reference probes are included in this probemix, detecting different autosomal chromosomal locations.

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 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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