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SALSA MLPA KIT P227 SerpinC1
[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM&cmd=Limits]
Antithrombin (III) deficiency is mainly caused by a defect in the SerpinC1 gene on chromosome 1q25.1. Antithrombin deficiency is a rare hereditary disorder that generally comes to light when a patient suffers recurrent venous thrombosis and pulmonary embolism. In renal failure, especially nephrotic syndrome, antithrombin is lost in the urine, leading to a higher activity of Factor II and Factor X and in increased tendency to thrombosis. The SerpinC1 gene comprises 7 exons, spanning about 14.5 kb of genomic DNA. Most individuals with Antithrombin deficiency have point mutations in the SerpinC1 gene, most of which will not be detected by the MLPA technique. This P227 SerpinC1 probemix contains probes for each of the 7 exons. In addition, it contains several control probes.
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Full mix description (pdf)
IMPORTANT NOTICE: MLPA kits are sold by MRC-Holland for research purposes and to demonstrate the possibilities of the MLPA technique. This kit is not CE/FDA certified for use in diagnostic procedures. Salsa MLPA kits are supplied with all necessary buffers and enzymes. Purchase of the Salsa MLPA test kits includes a limited license to use these products for research purposes. The use of this MLPA kit requires a thermocycler with heated lid and sequence type electrophoresis equipment. Different fluorescent PCR primers are available. The MLPA technique has been first described in Nucleic Acid Research 30, e57 (2002)
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Last update probemix description Last change in probemix content Current lot number
: vs. 01; 15-11-2006 : lot 1106 (November 2006) : lot 1106
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