Development of a Unified DNA and RNA NGS Panel for Thyroid Cancer
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چکیده
The Informagen Next Generation Sequencing (NGS) Thyroid Test offers a model for the development of a multi-categorical assay for simultaneous interrogation of RNA and DNA markers. The Informagen test enables the in-depth molecular characterization of thyroid cancer fine-needle aspirate (FNA) and formalin-fixed paraffin-embedded (FFPE) specimens through NGS analysis of hotspot regions across a 104-gene targeted DNA/RNA-Seq panel. This multi-panel assay, compatible with downstream Illumina sequencing chemistry, is composed of 68 amplicons covering clinically actionable mutations in BRAF, KRAS, NRAS, HRAS, PIK3CA and 15 additional genes, 52 RNA translocations and aberrant isoforms, and 40 mRNA disease-relevant expression markers.
منابع مشابه
Targeted next-generation sequencing panel (ThyroSeq) for detection of mutations in thyroid cancer.
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