SALSA MLPA Probemix P296 aHUS detects copy number variations in the CD46 and CFI genes.
Contents: 35 MLPA probes, including 13 probes for CD46 and 12 probes for CFI.
Tissue: human genomic DNA.
Application: research on atypical hemolytic uremic syndrome (aHUS).
For research use only (RUO). Not for use in diagnostics.
The SALSA MLPA Probemix P296 aHUS is a research use only (RUO) assay for the detection of deletions or duplications in the CD46 and CFI genes, which are associated with atypical hemolytic uremic syndrome (aHUS).
aHUS is characterised by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells'). The age of onset can range from the neonatal period to adulthood. Generally, aHUS is associated with poor outcome; about 60% of all genetic aHUS progresses to end-stage renal disease (ESRD). Approximately 60% of all aHUS cases have a genetic cause. Mutations in the CD46 and CFI genes account for ~7% and ~6% of all genetic variants leading to aHUS, respectively. Mutations in these genes are typically inherited in an autosomal dominant manner with incomplete penetrance.
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1367/.
SALSA MLPA Probemix P296 aHUS 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.