The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model.

Farkas DH; Miltgen NE; Stoerker J; van den Boom D; Highsmith WE; Cagasan L; McCullough R; Mueller R; Tang L; Tynan J; Tate C; Bombard A

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The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model.

机译：基质辅助激光解吸/电离飞行时间质谱在实验室开发的测试中的适用性，以囊性纤维化携带者筛查为模型。

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We designed a laboratory developed test (LDT) by using an open platform for mutation/polymorphism detection. Using a 108-member (mutation plus variant) cystic fibrosis carrier screening panel as a model, we completed the last phase of LDT validation by using matrix-assisted laser desorption/ionization time of flight mass spectrometry. Panel customization was accomplished via specific amplification primer and extension probe design. Amplified genomic DNA was subjected to allele specific, single base extension endpoint analysis by mass spectrometry for inspection of the cystic fibrosis transmembrane regulator gene (NM_000492.3). The panel of mutations and variants was tested against 386 blinded samples supplied by "authority" laboratories highly experienced in cystic fibrosis transmembrane regulator genotyping; >98% concordance was observed. All discrepant and discordant results were resolved satisfactorily. Taken together, these results describe the concluding portion of the LDT validation process and the use of mass spectrometry to detect a large number of complex reactions within a single run as well as its suitability as a platform appropriate for interrogation of scores to hundreds of targets.

机译：我们使用开放平台进行突变/多态性检测，设计了实验室开发的测试（LDT）。使用一个由108个成员（突变加变异体）组成的囊性纤维化携带者筛选面板作为模型，我们通过使用基质辅助激光解吸/电离飞行时间质谱仪完成了LDT验证的最后阶段。通过特定的扩增引物和延伸探针设计完成面板定制。通过质谱对扩增的基因组DNA进行等位基因特异性单碱基延伸终点分析，以检查囊性纤维化跨膜调节基因（NM_000492.3）。针对在囊性纤维化跨膜调节基因型研究方面经验丰富的“权威”实验室提供的386个盲样品，测试了一组突变和变异。观察到＞ 98％的一致性。所有不一致和不一致的结果均得到令人满意的解决。综上所述，这些结果描述了LDT验证过程的最后部分，以及在一次运行中使用质谱检测大量复杂反应的适用性，以及它作为适用于向数百个目标询问分数的平台的适用性。

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《The Journal of molecular diagnostics: JMD》 |2010年第5期|共9页
作者
Farkas DH; Miltgen NE; Stoerker J; van den Boom D; Highsmith WE; Cagasan L; McCullough R; Mueller R; Tang L; Tynan J; Tate C; Bombard A;
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中图分类临床医学;
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1. The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model. [J] . Farkas DH, Miltgen NE, Stoerker J, The Journal of molecular diagnostics: JMD . 2010,第5期

机译：基质辅助激光解吸/电离飞行时间质谱在实验室开发的测试中的适用性，以囊性纤维化携带者筛查为模型。
2. The effect of matrix-assisted laser desorption/ionization time-of-flight mass spectrometry instrumentation parameters on the matrix-assisted laser desorption/ionization simulated size exclusion chromatography number-mass, average-weight and polydispersity values of dextran against corresponding values obtained by size exclusion chromatography [J] . Bashir S., Giannakopulos A. E., Liu J. European journal of mass spectrometry . 2017,第6期

机译：基质辅助激光解吸/电离飞行时间传质仪表参数对基质辅助激光解吸/电离模拟的尺寸排阻色谱数量，葡聚糖的平均重量和多分散性值，以通过尺寸获得的相应值排除色谱
3. Evaluation of combined matrix-assisted laser desorption/ionization time-of-flight and matrix-assisted laser desorption/ionization Fourier transform ion cyclotron resonance mass spectrometry experiments for peptide mass fingerprinting analysis [J] . Da Silva D., Wasselin T., Carré V., Rapid Communications in Mass Spectrometry: RCM . 2011,第13期

机译：基质辅助激光解吸/电离飞行时间与基质辅助激光解吸/电离的组合傅里叶变换离子回旋共振质谱实验的评估，用于肽质量指纹分析
4. Applications of a tertiary matrix for the analysis of various samples using Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) [C] . Jangmi Hong, Sunyoung Lee, Jeongkwon Kim American Society for Mass Spectrometry Conference on Mass Spectrometry and Allied Topics . 2011

机译：第三基质的应用使用基质辅助激光解吸/电离飞行时间质谱法（MALDI-TOF MS）进行分析各种样品
5. Laser desorption/laser ionization time-of-flight mass spectrometry instrument design and investigation of the desorption and ionization mechanisms of matrix-assisted laser desorption/ionization. [D] . King, Richard Charles, III. 1994

机译：激光解吸/激光电离飞行时间质谱仪的设计以及基质辅助激光解吸/电离的解吸和电离机理研究。
6. The Suitability of Matrix Assisted Laser Desorption/Ionization Time of Flight Mass Spectrometry in a Laboratory Developed Test Using Cystic Fibrosis Carrier Screening as a Model [O] . Daniel H. Farkas, Nicholas E. Miltgen, Jay Stoerker, 2010

机译：基质辅助激光解吸/电离飞行时间质谱在实验室开发的以囊性纤维化携带者筛查为模型的试验中的适用性
7. The Suitability of Matrix Assisted Laser Desorption/Ionization Time of Flight Mass Spectrometry in a Laboratory Developed Test Using Cystic Fibrosis Carrier Screening as a Model [O] . Farkas, Daniel H., Miltgen, Nicholas E., Stoerker, Jay, 2010

机译：基质辅助激光解吸/电离飞行时间质谱在实验室开发的以囊性纤维化携带者筛查为模型的试验中的适用性

The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model.

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