Scientists working in a modern laboratory analysing genomic test results

Comprehensive Genetic Insights for
Multiple Myeloma

Next-generation sequencing (NGS) has played a crucial role in advancing our understanding of various diseases, including cancer.

For PatientsFor Clinicians
About PlasmaSEQ

Introduction to PlasmaSEQ & Its Role in Myeloma Diagnostics

Next-generation sequencing (NGS) has revolutionized our understanding of various diseases, including cancer. In the context of Multiple Myeloma (MM), NGS has been instrumental in unraveling the genomic landscape and identifying key genetic mutations critical for patient stratification and treatment planning.

PlasmaSEQ brings this powerful genomic analysis capability from research settings into routine clinical practice, enabling precision diagnostics and personalized therapeutic approaches for myeloma patients worldwide.

PlasmaSEQ vs FISH: A Comparison

Comparison with Conventional Diagnostics

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
Key Benefits

Why PlasmaSEQ

A comprehensive genomic profiling solution purpose-built for multiple myeloma diagnostics.

Why PlasmaSEQ

  • 1st Global NGS based test for Myeloma.
  • Validated for DNA input per sample of as low as 10 ng.
  • 1000 Samples validated in 3 countries with >95% accuracy.
  • Rapid turn around time
  • One stop test for detecting all genomic events including biallelic somatic changes

Feature

  • Eliminates the need of multiple assays like FISH and karyotyping
  • Able to pick up mutations including TP53 and other which are not checked by FISH

Advantage

  • Sample is not a limiting factor unlike in FISH where search for IGH partner can result into depletion of sample

Benefits

  • Cover CNVs across the genome relevant to Myeloma; hence, trisomies in all relevant chromosomes can be detected which is not routinely checked by FISH
KNOW MORE

FAQs

A minimum of 2 mL EDTA-anticoagulated bone marrow aspirate is required for PlasmaSEQ testing. Additional specimen types may also be accepted for testing. Please contact our team for specimen eligibility and submission requirements.

Yes. Sample collection kits are available to facilitate PlasmaSEQ testing. Please contact our team to request kits or discuss your specimen collection requirements.

PlasmaSEQ is validated for DNA inputs as low as 1 ng/µL, supporting reliable genomic profiling from low-input specimens while maintaining comprehensive genomic coverage.

PlasmaSEQ can detect clinically relevant genomic alterations that may not be fully characterized by conventional FISH testing, including bi-allelic deletions involving CDKN2C, multi-exonic TP53 deletions, sequence-level mutations, and additional genomic abnormalities associated with multiple myeloma. PlasmaSEQ also evaluates biomarkers relevant to targeted and emerging immunotherapies, providing a more comprehensive genomic profile for risk stratification and therapeutic decision-making.

Yes. PlasmaSEQ can support a variety of research applications. Please contact our team to discuss your research requirements and potential collaboration opportunities.

Connect with us to get more information about PlasmaSEQ

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