Cancer genetics - tumour profiling
Oncomine Precision Assay
A targeted NGS panel that profiles tumour DNA and RNA across 50 key oncogenes, delivering the variant landscape your treatment decisions depend on.
NGS tumour profiling
78 variants across 50 genes
FFPE or liquid biopsy
Clinician-ordered
Overview
What this test is
Treatment selection in oncology increasingly depends on the molecular profile of the tumour, not just its histological classification. The Oncomine Precision Assay gives you that profile across mutations, copy number variants, and gene fusions in a single validated NGS run.
The OPA is a targeted next generation sequencing panel developed by Thermo Fisher Scientific and validated for clinical oncology use. It analyses 78 variants across 50 key oncogenes including actionable mutations, CNVs, and fusion variants from FFPE tissue or liquid biopsy samples. Results inform treatment selection, targeted therapy eligibility, and clinical trial matching across a broad range of solid tumour types.
78
variants detected across mutations, CNVs and fusions
50
key oncogenes covered in a single run
45
mutation variants including hotspot and broader coverage
19
fusion variants including clinically actionable gene fusions
Variant coverage
What the assay detects
The OPA detects three classes of clinically actionable variant across its 50-gene panel.
45
Mutations (SNVs and indels)
Single nucleotide variants and small insertions and deletions across key driver genes. Includes hotspot mutations with direct therapeutic implications across multiple tumour types.
14
Copy number variants (CNVs)
Gene amplifications and deletions that drive tumour behaviour and influence targeted therapy eligibility including ERBB2 amplification and other clinically significant copy number changes.
19
Fusion variants
Oncogenic gene fusions detectable at RNA level including ALK, RET, ROS1, and NTRK fusions that are directly targetable with approved therapies across multiple cancer types.
Key genes covered by the panel include:
EGFR, ALK, BRAF, KRAS, NTRK, ROS1, RET, PIK3CA, ERBB2, MET, PTEN, CDKN2A, TP53, STK11, SMAD4, FBXW7, APC, FGFR1, FGFR2, FGFR3
Clinical utility
When to order this test
Treatment selection for solid tumour patients where targeted therapy or immunotherapy eligibility depends on tumour molecular profiling
Clinical trial matching where molecular eligibility criteria require confirmed variant status across multiple genes simultaneously
Resistance profiling after first-line treatment failure, where acquired resistance mutations may guide second-line therapy selection
Comprehensive baseline profiling at diagnosis for tumour types where multiple actionable variants are routinely assessed before treatment initiation
Sample requirements
Accepted sample types
FFPE tissue
Formalin-fixed paraffin-embedded tumour tissue collected by a surgeon or pathologist. The standard input for solid tumour profiling where tissue biopsy is available.
Collected by surgeon or pathologist
Liquid biopsy
Circulating tumour DNA extracted from a blood sample. Suitable where tissue biopsy is not feasible, for monitoring treatment response, or for detecting acquired resistance variants.
Blood collected by phlebotomist
Your result
What the report covers
Results are delivered as a comprehensive diagnostic and treatment interpretation report covering the full variant landscape of the tumour sample.
01
Variant identification
A full catalogue of detected mutations, CNVs, and fusions across the 50-gene panel, with variant allele frequencies and clinical significance annotations.
02
Therapeutic implications
Actionable variants are flagged with relevant approved therapies, companion diagnostic indications, and clinical trial eligibility where applicable.
03
DNA and RNA analysis
The assay analyses both DNA and RNA changes within the tumour sample, enabling detection of fusions and expression-level variants alongside mutation and copy number data.
Results are reported directly to the referring clinician.
A Genetix geneticist reviews findings with your team before the report is finalised. Your patient's report is released only once you have authorised it.
Technical information
How the assay works
Next generation sequencing
The OPA uses targeted NGS to simultaneously interrogate 78 variant positions across 50 genes from a single tumour sample input. Sequencing is performed at sufficient depth to detect low-frequency variants in heterogeneous tumour samples.
Dual DNA and RNA analysis
The assay is designed to capture both DNA-level variants (mutations and CNVs) and RNA-level events (gene fusions), providing a more complete picture of tumour biology than DNA-only panels.
Validated for clinical use
The Oncomine Precision Assay is a Thermo Fisher Scientific validated platform. All processing is performed in our South African laboratory, with results reviewed by our genetics team before issue.
References
Thermo Fisher Scientific. Oncomine Precision Assay. Available at: thermofisher.com/za
Tumour profiling that informs treatment decisions.
78 variants. 50 genes. One validated NGS run.
All processed in South Africa, results reviewed by our genetics team before issue.