PB2000: A comprehensive NGS panel approach for clinical genomic analysis in haematological malignancy | Mason J, et al | HemaSphere | Aug. 2023

Mason J, Skowronska A, Barrows N, Hill D, Page P, Hamblin A, Clokie S, Feber A, Hastings R, Cross N. PB2000: A comprehensive NGS panel approach for clinical genomic analysis in haematological malignancy. HemaSphere. 2023;7(S3):e76738e4.

Nonacus product: Oncology

Abstract

Delivery of comprehensive genomic analysis in hematological malignancies (HM) has until recently relied on multiple techniques for the detection of the range of aberrations of clinical relevance. Increasingly laboratories are replacing multiple workflows with next generation sequencing (NGS) based approaches; targeted panels are favored by many laboratories as the most cost-effective approach for the detection of clinically relevant CNVs and SVs in addition to SNVs and indels.

Our laboratory provides clinical testing services for a population of 6 million. The existing myeloid NGS panel reports on 42 genes, and detects SNVs and other clinically relevant mutations such as FLT3-ITDs and KMT2A-PTDs. All variants are interpreted by expert scientists according to recognized guidelines and captured in a curated database.