Comprehensive profiling of hematological malignancies

Targeted sequencing solutions for investigating the diverse molecular underpinnings of blood cancers

Hematological Cancer Profiling

Hematologic cancers account for 9.5% of new cancer cases diagnosed in the United States each year.1 The many stages of hematopoietic differentiation provide multiple opportunities for mutations that lead to distinct tumor subtypes.2 For this reason, accurate characterization of malignant cells is critical to understanding disease etiology and how cancer subtypes potentially relate to therapeutic options.

In contrast to traditional single-gene methods, next-generation sequencing (NGS) offers advancements in sensitivity and scale, enabling rapid and accurate profiling of hematologic tumors. The increased sensitivity provides greater visibility into important drivers of hematologic cancer, and NGS assays deliver streamlined workflows that enable different sample types to be assessed with the same assay.

Molecular Profiling of Solid Tumors Collage

Among the broad spectrum of NGS methods, targeted sequencing offers easy and cost-effective entry into researching cancer genomics. Targeted sequencing focuses only on genes related to hematological cancer, generating a smaller, more manageable data set. Many samples can be pooled together and sequenced simultaneously, simplifying lab validation procedures and significantly increasing sample throughput.

Hematologic cancer profiling using NGS follows a simple workflow that can be easily scaled to hundreds of samples. Clinical research labs can go from DNA to report in approximately 40 hours. This workflow uses a single instrument, minimizing laboratory validation steps and integrating seamlessly into the lab setting.

Illumina products empower clinical cancer research labs to use the most current technologies to find accurate answers while seamlessly integrating NGS into the lab. Expert-defined panels containing relevant genes enable rapid analysis of myeloid and lymphoid malignancies.

Illumina sequencers deliver industry-leading accuracy, generating ~ 90% of the world’s sequencing data.* Efficient reporting capabilities enable researchers to annotate, classify, and communicate significant findings in a standard format that facilitates data analyses and trending.

Click on the below to view products for each workflow step.

TruSight Myeloid Sequencing Panel

Expert-defined panel targeting oncogenic exons and tumor suppressor genes for myeloid malignancies.

TruSight Oncology UMI Reagents

The TruSight Oncology UMI Reagents and UMI Error Correction App reduce error rates in samples to ≤0.007%, enabling the detection of low frequency variants.

TruSight RNA Pan-Cancer

Targeting 1385 cancer-associated genes for gene expression, variant and fusion detection in all cancer research sample types including FFPE.

TruSight RNA Fusion

A gene fusion detection panel targeting fusion associated genes in many cancer types with the ability to detect known and novel fusion gene partners.

AmpliSeq for Illumina Myeloid Panel

Targeted panel to investigate 40 DNA genes, 29 RNA fusion driver genes, and 5 gene expression levels associated with myeloid cancers.

AmpliSeq for Illumina Sequencing Solution

A highly multiplexed polymerase chain reaction (PCR)-based workflow for use with targets ranging from a few to hundreds of genes in a single run.

MiniSeq System

Small and affordable benchtop sequencer for reliable low-throughput targeted sequencing of hematological cancers.

MiSeq System

Desktop sequencer featuring a simple NGS workflow, integrated data analysis software, and unmatched accuracy.

MiSeqDx Instrument

FDA-cleared in vitro diagnostic NGS system that also operates in research mode to generate accurate, reliable data.

NextSeq Series

Flexible desktop sequencers that support multiple applications, from targeted profiling to whole-genome sequencing.

MiSeq Reporter

Easy-to-use software for analysis and variant calling on the MiSeq System.

VariantStudio Software

A powerful analysis and reporting tool that provides biological insight into genomic variant data.

BaseSpace Sequence Hub

The Illumina genomics computing environment for NGS data analysis and management.

Local Run Manager

Easy-to-use software for automated on-instrument data analysis.

Targeted Panel Sequencing for Researching Hematologic Disorders

Dr. Torsten Haferlach, Head of Munich Leukemia Laboratory, discusses molecular assessments of hematologic disorders.

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NGS Complements Traditional Cytogenetic Methods
NGS Complements Traditional Cytogenetic Methods

Genomic analysis of tumors provides comprehensive detection of genetic abnormalities.

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New Views of Cancer Pathways in Pediatric Leukemia
New Views of Cancer Pathways in Pediatric Leukemia

Researchers are using the TruSight RNA Pan-Cancer Panel to understand the role of fusion genes in pediatric leukemia.

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Comprehensive Panel for Gene Fusion Detection
Comprehensive Panel for Gene Fusion Detection

Ravindra Kolhe, MD, PhD, discusses using the TruSight RNA Fusion Panel to study gene fusions in cancer.

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Targeted Resequencing Analysis in Myeloid Disorders

Technological advances in DNA sequencing provide an important tool to analyze heterogeneous cancer samples.

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NGS to Detect Blood Cancers
NGS to Detect Blood Cancers

Targeted NGS can identify myeloid-related genes with greater sensitivity than Sanger sequencing or cytogenetic methods.

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  1. Leukemia & Lymphoma Society (
  2. Staudt LM. Molecular diagnosis of the hematologic cancers. N Engl J Med. 2003;348:1777-1785.

* Data calculations on file. Illumina, Inc. 2015.