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Analyses of QC Materials for Huntington s Disease Genetic Testing



J P. Jakupciak, Kristy L. Richie


The expansion of molecular testing using nucleic acid technologies in clinical and public health practice has increased the need for appropriate reference materials and verified quality control (QC) materials for quality assurance, test validation, proficiency testing and the development of new tests. Good laboratory practice requires the use of reference materials to establish an assay and assess the variability of the results. QC materials are required to assess the assay on a daily basis and to normalize results collected among different laboratories. Despite the growing test volume, the rapidly increasing number of tests being offered, and the necessary routine use, QC materials and certified reference materials are not available. There is a wide range of human genetic tests for which there are no available traceable 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 sequence analysis, which is considered the gold standard. In the field of personalized medicine, NIST has created and validated Standard Reference Material for fragile X testing (SRM 2399). Herein we describe our characterization of candidate reference materials for Huntington s disease genetic testing.
Accreditation and Quality Assurance


CAG triplet repeat, DNA sequencing, electrophoretic sizing, genetic testing, HD


Jakupciak, J. and Richie, K. (2008), Analyses of QC Materials for Huntington s Disease Genetic Testing, Accreditation and Quality Assurance (Accessed July 22, 2024)


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Created October 16, 2008