Reference Measurement Systems in Genetic Testing: Development of DNA-based Reference Materials Summary of PhD thesis
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منابع مشابه
Development of genomic reference materials for cystic fibrosis genetic testing.
The number of different laboratories that perform genetic testing for cystic fibrosis is increasing. However, there are a limited number of quality control and other reference materials available, none of which cover all of the alleles included in commercially available reagents or platforms. The alleles in many publicly available cell lines that could serve as reference materials have neither ...
متن کاملDevelopment of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing.
Myotonic dystrophy type 1 (DM1) is caused by expansion of a CTG triplet repeat in the 3' untranslated region of the DMPK gene that encodes a serine-threonine kinase. Patients with larger repeats tend to have a more severe phenotype. Clinical laboratories require reference and quality control materials for DM1 diagnostic and carrier genetic testing. Well-characterized reference materials are not...
متن کاملDevelopment and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing.
Well-characterized reference materials (RMs) are integral in maintaining clinical laboratory quality assurance for genetic testing. These RMs can be used for quality control, monitoring of test performance, test validation, and proficiency testing of DNA-based genetic tests. To address the need for such materials, the Centers for Disease Control and Prevention established the Genetic Testing Re...
متن کاملThe need for national diagnostic reference levels: Entrance surface dose measurement in intraoral radiography
Background: Intraoral radiographies are the most frequent X-ray examinations in humans. According to International Commission on Radiation Protection (ICRP) recommendations, the selection of a diagnostic reference level (DRL) should be specific to a country or region. Critica l organs such as thyroid gland are exposed to X-rays in intraoral radiography and these exposures should be kept as low ...
متن کاملRemodeling Of Average Of Patients QC Method To Maximize Lengths Of Analytical Runs In Regional Reference Laboratories
Background and Objective: Improved and modified automation will require the development of smart process control systems that provide on-line decisions to release patients’ test results based on high analytical quality assurance formula. Materials and Methods: We collected patients’ test results from 10840 healthy subjects based on 1.96z as truncation limit for 29 common haematochemical ana...
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تاریخ انتشار 2011