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SALSA MLPA Probemix P296 aHUS

Hemolytic uremic syndrome, atypical (aHUS)

Region: CFI 4q25; CD46 1q32.2

General information: 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/

Probemix content: 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.

Order Items

Probemix

Item no.
Description
Technology
Price
P296-025R
SALSA MLPA Probemix P296 aHUS – 25 rxn
€ 243.00
P296-050R
SALSA MLPA Probemix P296 aHUS – 50 rxn
€ 486.00
P296-100R
SALSA MLPA Probemix P296 aHUS – 100 rxn
€ 972.00

Required Reagents (Sold Separately)

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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