J Mol Diagn. 2018 Aug 20. pii: S1525-1578(18)30102-8. doi: 10.1016/j.jmoldx.2018.06.009. [Epub ahead of print]
OncoKidsSM: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies.
Hiemenz MC1, Ostrow DG2, Busse TM2, Buckley J3, Maglinte DT2, Bootwalla M2, Done J2, Ji J3, Raca G3, Ryutov A2, Xu X4, Zhen CJ5, Conroy JM6, Hazard FK7, Deignan JL8, Rogers B9, Treece AL10, Parham DM3, Gai X3, Judkins AR3, Triche TJ3, Biegel JA3.
Abstract
The OncoKidsSM panel is an amplification-based next-generation sequencing assay designed to detect diagnostic, prognostic, and therapeutic markers across the spectrum of pediatric malignancies, including leukemias, sarcomas, brain tumors, and embryonal tumors. This panel uses low input amounts of DNA (20 nanograms) and RNA (20 nanograms) and is compatible with formalin-fixed, paraffin-embedded as well as frozen tissue, bone marrow, and peripheral blood. The DNA content of this panel covers the full coding regions of 44 cancer predisposition loci, tumor suppressor genes, and oncogenes; hotspots for mutations in 82 genes; and amplification events in 24 genes. The RNA content includes 1,421 targeted gene fusions. We describe the validation of this panel using a large cohort of 192 unique clinical samples that included a wide range of tumor types and alterations. Robust performance was observed for analytical sensitivity, reproducibility, and limit of detection studies. The results from this study support the use of OncoKidsSM for routine clinical testing of a wide variety of pediatric malignancies.
- PMID:
- 30138724
- DOI:
- 10.1016/j.jmoldx.2018.06.009
.png)
No hay comentarios:
Publicar un comentario