Overcoming challenges in expanding NGS based mutation panels to analyze indeterminate thyroid nodule aspirates

Mutational analysis is an important source of diagnostic and predictive information for resolving cytologic indeterminate thyroid nodules accomplished most comprehensively by next generation sequencing (NGS). Technical hurdles can arise requiring novel solutions when expanding the existing scope and number of mutations and fusions to detect, especially when starting material is limited in both quality and quantity. Previously, we validated the combined NGS based ThyGenX test for analyzing the presence of mutations in 5 genes and 6 RNA fusions in thyroid nodule aspirates (1-4).

We recently expanded the mutation and RNA fusion detection capabilities with the addition of 5 DNA markers and 32 RNA fusions for a total of 18 DNA markers and 38 RNA fusions named the  ThyGeNEXT test (Table 1). Using ThyGenX test results as the reference, we present the analytical validation of a highly accurate and sensitive ThyGeNEXT test.

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