Analytical validation of quality control materials for Huntington’s disease examination

Autor: John P. Jakupciak, Kristy L. Richie
Rok vydání: 2007
Předmět:
Zdroj: Accreditation and Quality Assurance. 12:139-145
ISSN: 1432-0517
0949-1775
DOI: 10.1007/s00769-006-0226-5
Popis: The expansion of molecular diagnostics using nucleic acid technologies in clinical and public health practice has increased the need for appropriate reference materials and verified quality-control materials for quality assurance, test validation, proficiency testing and the development of new examination procedures. Good laboratory practice requires the use of reference materials to establish an examination procedure and assess the variability of the results. Reference materials are also required to assess the assay on a daily basis and to normalize results collected among different laboratories. Despite the growing volume, the rapidly increasing number of tests being offered, and the necessary routine use, certified reference materials are often not available. There is a wide range of human genetic bio-assays for which there are no available traceable certified reference materials. Several initiatives have been organized to provide well-characterized quality control specimens (e.g., cell lines) with known DNA mutations for use in diagnostics. Mutations are confirmed with bi-directional DNA sequence analysis, which is considered the reference examination procedure. In the field of personalized medicine, NIST has created and validated Standard Reference Material® 2399 for fragile X examinations. Herein we describe our characterization of candidate reference materials for Huntington’s disease genetic examination. Bi-directional DNA sequencing confirmed the size of the CAG repeat contained on each allele from patient derived materials. Amplification and capillary electrophoresis of the CAG repeats had an uncertainty ranging from 2.06%CV to 7.83%CV.
Databáze: OpenAIRE
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