Implementation of a new, inexpensive and high-throughput Matrix Assisted Laser Desorption / Ionization _ Time Of Flight Mass Spectrometry test for superior detection of Fragile X Syndrome in targeted diagnostics and newborn population screening.

实施新型、廉价且高通量的基质辅助激光解吸/电离_飞行时间质谱测试，以在目标诊断和新生儿群体筛查中更好地检测脆性 X 综合征。

• 批准号: nhmrc : 1017263
• 负责人: A/Pr Howard Slater
• 金额: $ 16.95万
• 依托单位: Murdoch Childrens Research Institute
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Development Grants
• 财政年份: 2011
• 资助国家: 澳大利亚
• 起止时间: 2011-01-01 至 2012-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/implementation-new-inexpensive-population-screening/109843
• 关键词: Implementation; new; inexpensive; throughput; Matrix

Background: The Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability. There are now a number of treatments for FXS. However, often this disorder is not clearly recognized. We have developed a novel FXS test that could resolve this issue. Our objective is to develop a commercial package that describes suitability of our test for diagnostic use. If successful this could potentially leading to improvement in the prognosis for FXS children through early treatment intervention.

背景：脆性X综合征（FXS）是最常见的遗传性智力残疾形式。现在有许多治疗FXS的方法。然而，这种疾病往往没有被清楚地认识到。我们已经开发了一种新的FXS测试，可以解决这个问题。我们的目标是开发一个商业包装，描述我们的测试诊断用途的适用性。如果成功，这可能会通过早期治疗干预改善FXS儿童的预后。