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Updated: May 9, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Genomic testing: the clinical laboratory perspective
1Clinical Diagnostic Strategies, LLC, Durham, North Carolina, USA. farukih@clindiagstrategies.com
Abstract:
The expansion of genetic testing in the clinical laboratory is well under way, with many clinically validated genetic tests already in use. As sequencing technology becomes more efficient and less costly, clinical laboratories will make the transition from single-gene testing to multigene panels. Early, more targeted applications will gradually be replaced by more comprehensive genomic offerings, including exome and whole-genome analysis. Despite significant technological advancements, many obstacles remain for full incorporation of whole-genome testing.
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