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Updated: Aug 29, 2025
Visualizing Genetic Variants, Short Targets, and Point Mutations in the Morphological Tissue Context with an RNA In Situ Hybridization Assay
Published on: August 14, 2018
Development and characterization of reference materials for EGFR, KRAS, NRAS, BRAF, PIK3CA, ALK, and MET genetic
Wenxin Zhang1,1, Shoufang Qu1,1, Qiong Chen2,3,1
1Department of In Vitro Diagnostic Reagent, National Institutes for Food and Drug Control (NIFDC), Beijing, China.
Background:
Along with the dramatic development of molecular diagnostic testing for the detection of oncogene variations, reference materials (RMs) have become increasingly important in performance evaluation of genetic testing.
Objective:
In this study, we built a set of RMs for genetic testing based on next-generation sequencing (NGS).
Method:
Solid tumor tissues were selected as the samples of RMs for preparation. NGS was used to determine and validate the variants and the mutation frequency in DNA samples. Digital PCR was used to determine the copy numbers of RNA samples. The performance of the RMs was validated by six laboratories.
Results:
Thirty common genetic alterations were designed based on these RMs. RMs consisted of a positive reference, a limit of detection reference, and a negative reference. The validation results confirmed the performance of the RMs.
Conclusion:
These RMs may be an attractive tool for the development, validation, and quality monitoring of molecular genetic testing.
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