VALIDATION PRODUCTS FOR CYSTIC FIBROSIS MOLECULAR TESTS

描述（由申请人提供）：该第二阶段项目开发了一种新的， 一套全面的控制产品，用于分子基质量保证 囊性纤维化（OF）诊断测试。对照品与患者一起检测 样本，按照联邦法规的要求，以确保医疗质量 试验.分子诊断技术的采用受到缺乏 商业质量控制。基于患者的材料通常用作 控制，这提出了病人的保密性，感染风险和 供应有限。第一阶段的研究证明了创新的可行性 生产稳定、可再生、无感染性对照品的系统。同相 II，构建体将被工程化以包含16个医学上重要的CF基因 携带47种常见CF诊断突变的片段。一个独特 用于组装片段的盒方案将产生易于修改的结构 以适应新的分子测试该结构将通过 专利技术并悬浮在生物基质中以模拟患者 样品我们的对照组将验证CF诊断测定，并将作为 为基因测试设计生产质量保证产品的示范系统 来检测多种突变这些产品的可用性很重要 为医疗诊断做出了重大贡献， 确保基因检测结果的质量。 拟议商业应用：不可用

DESCRIPTION (provided by applicant): This Phase II project develops a novel, comprehensive set of control products for quality assurance of molecular-based cystic fibrosis (OF) diagnostic tests. Controls are tested alongside patient specimens, as required by Federal regulations, to ensure quality in medical testing. Adoption of molecular diagnostics technology is inhibited by lack of commercial quality controls. Patient-based materials are often used as controls, which presents issues of patient confidentiality, infection risk and limited supply. Phase I research demonstrated feasibility of an innovative system for production of stable, renewable, noninfectious controls. In Phase II, constructs will be engineered to contain 16 medically important CF gene segments that carry forty-seven common CF diagnostic mutations. A unique cassette scheme for assembly of segments will yield a construct easily modified to accommodate new molecular tests. The construct will be stabilized by a proprietary technology and suspended in a biological matrix to mimic patient samples. Our control set will validate CF diagnostic assays and will serve as a model system to produce quality assurance products for genetic tests designed to detect multiple mutations. The availability of these products is important to medical diagnostics and makes a significant contribution to patient care by ensuring quality of genetic testing results. PROPOSED COMMERCIAL APPLICATION: NOT AVAILABLE