Neogenomics, Inc. · NASDAQ:NEO
Neogenomics — Technical Presentation (2020)
8 slides from Neogenomics's technical presentation, 2020
Slide 1: A novel single-tube multimodal NGS assay for hematologic malignancies
Title Title: A novel single-tube multimodal NGS assay using total nucleic acid for comprehensive genomic profiling of hematologic malignancies. Authors: YongXin Yu, Francys Alarcon, Yanglong Mou, Segun C. Jung, Hyunjun Nam, Brad Thomas, Lauryn Keeler, Eve Shinbrot, Christophe Magnan, Tessa Weiss, Ry
Slide 2: Introduction
Introduction A cost effective and comprehensive genomic profiling (CGP) approach for diagnosis, risk stratification and therapy would be useful for the evaluation of oncologic specimens. Available approaches involving additive testing for DNA and RNA abnormalities through traditional methods (e.g. S
Slide 3: Methods
Methods Total nucleic acid (TNA) was extracted from bone marrow and peripheral blood of the patients (CML, CMML, CLL, AML and myeloid disorders). 297 genes that have DNA mutations specific to hematological cancers were targeted, along with 213 genes that were targeted for clinically significant RNA
Slide 4: TNA Quality/Quantity Profiling - Yield and OD ratios
Multimodal NGS workflow TNA Quality/Quantity Profiling - Yield and OD ratios (48 MOL case samples and 48 NTP case samples) TNA quants RNA quants DNA quants 3 2.5 TNA QC 2 Value 1.5 1 0.5 0 A260/280 A260/A230
Slide 5: Results
Results In this study, we developed an efficient and high-quality TNA extraction method that can purify enough total nucleic acid from bone marrow, peripheral blood, cytogenetic pellets, flow suspension, and FFPE samples for the downstream NGS assay. The average OD 260/280 value was 1.9 and the OD 2
Slide 6: Abnormalities of DNA and RNA are detected in one CML patient
Abnormalities of DNA and RNA are detected in one CML patient Mutant Allele Patient ID DNA variants Frequency (%) RNA fusions FISH test JAK2:K558N 49.7 FGFR1 GENE REARRANGEMENT;FGFR1 gene BCR-FGFR1 rearrangement in 87.5% of interphase CML_P1 ASXL1:S846Qfs*5 6.2 nuclei (1R1G1F, normal <5.7%) Abnormali
Slide 7: Conclusion
Extensive Orthogonal Validation of the Fusions Sixty-nine samples with a list of 20 fusions, previously reported by ArcherDX, were tested by NGS resulting 92.5% (64/69) concordance. Conclusion We developed a single tube TNA based workflow with a custom multimodal chemistry that simultaneously detect
Slide 8: Disclosure
Disclosure I have relevant financial Type of the Relationship Author Address Name of Organization Signed on relationship (s) to disclosure (s) NeoGenomics Laboratories, Inc NeoGenomics YongXin Yu, PhD Yes Current Employment 8/7/2020 31 Columbia, CA . Laboratories, Inc. NeoGenomics Laboratories, Inc