PlasmaSEQ

PlasmaSEQ Overview

Transforming Multiple Myeloma Diagnostics
Through Comprehensive Genomic Profiling

Multiple myeloma continues to be one of the most challenging and resistant hematological malignancies in spite of the advent of so many newer therapies in the last decade. This has called into question our basis of classification of myeloma.

PlasmaSEQ lays the foundation for a revolution in myeloma diagnostics with an assay that looks at myeloma more closely than any assay before it.

Comparison with Conventional Diagnostics

While FISH tests have been the standard in myeloma for almost 2 decades now, it is extremely limiting in terms of resolution. FISH can in general only identify abnormalities that involve at least 100k to 200k abnormal DNA molecules. PlasmaSEQ however can do this at a resolution of 1 abnormal DNA molecule, thus bringing a new paradigm to myeloma care.

PlasmaSEQ

  • Del (17p)
  • Del (1p32) - detects ALL biallelic del1p32
  • 1q21 amplification/gain
  • IGH Translocations
  • t(4;14)IGH::FGFR3
  • t(14;16)IGH::MAF
  • t(11;14)IGH::CCND1
  • t(6;14)IGH::CCND3
  • t(14;20)IGH::MAFB
  • TP53 Mutation
  • BRAF V600E
  • All RAS/RAF Mutations
  • DIS3-DEL(13q) Mutation
  • SLAMF7, BCMA & APRIL and GPRC5D
  • Genomic Profiling of ATM
  • Trisomies & Hyperdiploidy across the genome
  • Important for AL Amyloidosis and SMM
Conventional FISH testing

FISH

  • Del (17p)
  • Del (1p32) - detects only ~20% of biallelic del1p32
  • 1q21 amplification/gain
  • IGH Translocations
  • t(4;14)IGH::FGFR3
  • t(14;16)IGH::MAF
  • t(11;14)IGH::CCND1
  • t(6;14)IGH::CCND3
  • t(14;20)IGH::MAFB