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TM10-S2-2 Marianne Stef.pdf

TM10-S2-2 Marianne Stef.pdf

EVOLUTIONMarch

EVOLUTIONMarch h2010European marketLIPOCHIP VERSIONSV1.0DETECTED MUTATIONS118V2.0154V3.0181V4.0207V5.0234V7.0238 + CNVV8.0251 + CNVDec 2002Dec 2003July 2004 July 2005 March 2007 June 2008 March 2009UK marketJuly 201083,8%80.5%80,5%91,3%76,7%

CONCLUSION Capacity for one tool to detect point mutations and CNC Reproducibility, sensitivity and specificity > 99.5% Results in less than one week with the chip LIPOchip UK expected pick up rate around 80%‣ confirming negatives by sequencing may only be required inspecial cases Can be applied to any kind of illness linked to both point mutationsand CNVs

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