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Oncology

Oncology Molecular Testing Panels

Modern oncology requires a flexible molecular toolkit. Depending on the clinical question, laboratories may rely on either real-time PCR–based assays for fast, focused mutation detection, or turn to next-generation sequencing (NGS) for comprehensive genomic insights.

Clinically relevant mutations (e.g., EGFR, KRAS, BRAF, BRCA, ESR1)

Gene fusions, CNVs, and exon skipping events

Tumor biomarkers such as MSI, TMB, and HRD

Hereditary cancer associated variants

Circulating tumor DNA (ctDNA) for non-invasive testing

Solid tumors and hematologic malignancies

Real-Time PCR Panels

Real-time PCR assays offer a powerful solution for rapid, sensitive, and cost-effective detection of clinically actionable mutations and fusions. These kits are widely used in routine molecular oncology workflows, especially when tissue or time is limited. Compatible with FFPE or plasma samples, they support fast decision-making in NSCLC, colorectal, breast, and other cancers.

Comprehensive fusion panel designed for NSCLC.
Gene fusions: ALK, ROS1, RET, NTRK1/2/3
Splicing mutation: MET exon 14 skipping
Sample types: FFPE, plasma (cfDNA)
Results in under 3 hours

Colorectal cancer mutation and MSI profiling.
• Detects:
KRAS mutations (34 variants, exons 12–146)
NRAS mutations (24 variants, exons 12–146)
BRAF p.V600E
Microsatellite Instability (MSI)
• Sample type: FFPE

Highly sensitive plasma-based EGFR mutation assay for NSCLC.
• Targets: 19Del, L858R, T790M, S768I, G719X, L861Q, C797S, and others
• Sample type: plasma (cfDNA)
• Super ARMS technology enhances specificity at low VAF
• Ideal for diagnosis, monitoring, and resistance detection

A plasma-based assay for ESR1 mutations in hormone receptor–positive metastatic breast cancer.
• Targets: Y537S, Y537N, Y537C, D538G, E380Q
• Sample type: plasma (cfDNA)
• Enables detection of endocrine therapy resistance mutations

Targeted NGS Panels

Targeted next-generation sequencing (NGS) panels are essential tools for precision in oncology. From hereditary cancers to hematologic malignancies, these panels are designed to focus on clinically relevant genes, enabling rapid, cost-effective, and highly sensitive mutation detection across a wide range of tumor types. Our portfolio brings together Illumina’s Pillar™ OncoReveal™ panels and AmoyDx Handle™ NGS solutions, each optimized for FFPE samples and tailored to support confident, actionable results in routine and translational cancer research.
Pillar OncoReveal™ BRCA Panel

Covers full coding regions of BRCA1 and BRCA2 genes using amplicon-based enrichment for high accuracy in somatic mutation detection.

Pillar OncoReveal™ MPN Panel

 Targets common mutations involved in myeloproliferative neoplasms (MPNs), including JAK2, CALR, and MPL genes.

Pillar OncoReveal™ Multi-Cancer Panel

Covers 67 genes relevant to multiple solid tumors including lung, colon, breast, ovarian, and melanoma; optimized for SNV and indel detection.

Pillar OncoReveal™ Multi-Cancer RNA Fusion Panel

Enables detection of clinically actionable RNA fusions in over 40 gene targets such as ALK, ROS1, RET, NTRK, and more.

Pillar OncoReveal™ Myeloid Panel

Covers genes frequently mutated in AML, MDS, and other hematologic cancers — including FLT3, NPM1, CEBPA, IDH1/2, and others.

AmoyDx Handle™ Classic NGS Panel

A comprehensive NGS panel covering hundreds of variants across 118 cancer-related genes. Detects SNVs, indels, CNVs, and fusions — ideal for broad tumor profiling from FFPE samples.

AmoyDx Handle™ HRR NGS Panel (FFPE)

Designed for homologous recombination repair pathway analysis. Targets BRCA1/2 and 43 additional genes involved in DNA repair — compatible with FFPE samples.

Liquid Biopsy NGS Panels

When tissue isn’t an option, liquid biopsy offers a powerful alternative. By analyzing circulating tumor DNA (ctDNA) from plasma samples, these non-invasive assays enable real-time monitoring of tumor dynamics, early resistance detection, and personalized therapy guidance. Our portfolio includes ultrasensitive qPCR-based kits for detecting key driver mutations as well as broad NGS-based panels for pan-cancer mutation profiling. Whether you need focused or comprehensive insight, the following solutions support precision oncology through plasma-based mutation detection.
TruSight Oncology 500 ctDNA v2

Enables the detection of mutations, fusions, copy number variations, and indels across more than 500 cancer-related genes. It operates with high sensitivity even at low ctDNA levels, reducing the need for repeat biopsies.

• Built-in support for therapy selection, immuno-oncology, and resistance tracking

• Powered by DRAGEN™ secondary analysis and integrated with clinical decision support

• Sample type: Plasma (cfDNA)

MSI

TMB

CNV

SNV/Indel

A broad NGS-based ctDNA panel for pan-cancer mutation profiling.

• Detects SNVs, indels, CNVs, and fusions in plasma samples

• Covers a wide range of oncogenic driver genes

• Suitable for solid tumors where biopsy is not feasible

• Supports longitudinal monitoring and therapy matching

CNV

SNV/Indel

Fusion

cfDNA-based detection of alterations in HRR pathway genes, including BRCA1/2, to guide targeted therapies.

• Enables HRR status assessment from blood

• Ideal for PARP inhibitor eligibility screening when tissue is unavailable

• Sample type: Plasma (cfDNA)

• Integrated into HRD testing strategies

HRR Status

HRD

Ultra-sensitive detection of key EGFR mutations from plasma samples in NSCLC patients.

• Targets: 19Del, L858R, T790M, S768I, G719X, L861Q, C797S

• Sample type: Plasma (cfDNA)

• Sensitivity: down to 0.2% VAF

• Applications: diagnosis, resistance detection, therapy guidance

Enables detection of endocrine resistance mutations in HR-positive metastatic breast cancer.

• Targets: ESR1 Y537S, Y537N, Y537C, D538G, E380Q

• Sample type: Plasma (cfDNA)

• Early resistance detection for personalized treatment planning

Comprehensive NGS Panels

One test, hundreds of answers.

Designed to capture the full complexity of cancer genomics, comprehensive NGS panels provide extensive coverage across hundreds of genes—empowering precision oncology through a single assay.

Illumina TruSight Oncology 500
A tissue-based, pan-cancer assay covering 523 genes relevant to solid tumors.
• Detects: SNVs, indels, CNVs, gene fusions, and splice variants
• Reports key biomarkers: TMB, MSI, and HRD status (in combination with additional tools)
• Applications: therapy guidance, biomarker discovery, immuno-oncology
• Sample type: FFPE tissue
• Supports DRAGEN analysis and decision-support integration

MSI

TMB

HRD

Looking for Biomarker Testing?

Advanced biomarker testing is essential for selecting the right therapy, especially in immuno-oncology and targeted treatments. Both Illumina and AmoyDx offer validated solutions for MSI, TMB, and HRD analysis.

Oncology
Microsatellite Instability (MSI)

A predictive biomarker for response to immune checkpoint inhibitors

Oncology
Tumor Mutational Burden (TMB)

An indicator of mutation intensity associated with immunotherapy response

Oncology
Homologous Recombination Deficiency (HRD)

A genomic signature linked to PARP inhibitor sensitivity