The SALSA MLPA Probemix P296 aHUS is a research use only (RUO)
assay for the detection of deletions or duplications in the CD46
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
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/
The SALSA MLPA Probemix P296-A3 aHUS contains 35 MLPA probes with amplification products between 142 and 454 nucleotides (nt). This includes 13 probes for the CD46
gene and 12 probes for the CFI
gene. In addition, 10 reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are 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 table below). 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