The Science
The science
behind your results.
Epicheck brings together complementary molecular approaches. We select the method according to the clinical question, the sample and the findings being investigated. Understanding the difference between a measurement and its interpretation helps connect each result to the person and the reason for testing.
Inside the scienceLaboratory technologies
How we obtain measurements.
Analytical methods
How measurements become meaningful findings.
Service areas
The clinical or trait-related question being explored.
01 / Laboratory technologies
Different questions. Complementary methods.
GeneTitan and DNA microarrays
DNA microarrays examine many predefined genetic positions in parallel. GeneTitan automates array hybridisation, washing, staining and imaging. Analysis of the resulting signals identifies the genetic variants present at those positions. This is targeted genotyping, rather than whole-genome sequencing. The variant information provides the starting point for genetic risk and trait analysis; the array’s content and the selected test determine which findings can be interpreted.
Next-generation sequencing: Ion Torrent Genexus
Epicheck uses the Ion Torrent Genexus System for next-generation sequencing (NGS). NGS reads genetic sequence within the test’s covered regions, analysing DNA or RNA-derived material according to the assay. The Genexus Integrated Sequencer combines library preparation, templating, sequencing and data analysis. In oncology, this approach investigates tumour-related sequence changes and, where covered, gene fusions. The report relates the identified findings to the requested panel and clinical question.
PCR and focused molecular testing
Polymerase chain reaction (PCR) amplifies a selected DNA target. Real-time PCR follows fluorescence during amplification; digital PCR separates the sample into many reactions and uses positive and negative signals to estimate target quantity. Our catalogue includes focused EGFR, KRAS, IDH1/IDH2 and BRAF testing. A defined mutation or resistance question can therefore be investigated directly.
Tissue biomarkers and immunohistochemistry
Immunohistochemistry (IHC) uses antibodies to reveal selected proteins in tissue. The portfolio includes mismatch-repair (MMR) proteins and PD-L1. Staining shows protein expression within the tissue’s cellular context. It complements molecular testing by examining proteins, rather than reading DNA sequence or genotyping an array.
02 / Analytical methods & applications
Genetic risk & traits
Disease risk, nutrition, fitness and allergy susceptibility are applications of genetic information, not four different technologies. A shared laboratory pathway can support polygenic scoring, individual-variant interpretation or both, according to the test.
- DNA microarrays / GeneTitan
- Identification of genetic variants
- Polygenic scoring or individual-variant interpretation
- Contextualised report
- Polygenic score (PGS)
- Combines contributions from multiple genetic variants to assess inherited predisposition to a trait.
- Polygenic risk score (PRS)
- A polygenic score addressing susceptibility to a disease. It is one type of PGS.
- Individual-variant interpretation
- Evaluates particular genetic findings relevant to a defined trait using the evidence for that association.
Disease risk
Inherited susceptibility to selected conditions, considered alongside personal and family history.
Nutrigenomics
Selected genetic traits related to nutrition and metabolism.
Fitness genomics
Selected inherited traits associated with physical characteristics and exercise response.
Allergy genetics
Inherited susceptibility to selected allergic conditions, distinct from identifying the substances causing current allergic reactions.
03 / Across the portfolio
The method serves the clinical question.
Tumour profiling combines relevant molecular findings with the clinical picture to inform classification or treatment discussions. Our sequencing catalogue spans tumour-specific NGS, broader 161- and 517-gene profiling and a 79-gene blood-cancer panel. Focused PCR and MMR/PD-L1 tissue testing answer complementary questions. Inherited variants and changes found in tumour material have different implications.
Testing investigates variants relevant to a suspected inherited disorder or familial predisposition. The catalogue’s germline BRCA1/BRCA2 test uses NGS on blood-derived DNA, addressing inherited cancer susceptibility separately from tumour BRCA analysis. The clinical question and family history guide the scope.
Carrier screening investigates inherited variants relevant to reproductive planning. Individual or paired findings help clarify the contribution of each genetic parent, including donor pathways. The selected panel’s variant coverage and laboratory method define what is assessed; carrier status is a different question from embryo testing.
Selected genetic differences can influence drug metabolism, exposure or response. Interpretation connects a specific gene–drug relationship with applicable evidence and prescribing guidance, where available. The findings contribute to medication discussions alongside the indication, current treatment and clinical history.
04 / The process
From sample to report.
Sample identification and preparation
The sample’s identity, type and suitability are established for the requested analysis.
Laboratory measurement
The selected method generates array signals, sequence reads, PCR signals or tissue-staining findings.
Data processing and quality assessment
Measurements become analysable findings, assessed against the quality criteria relevant to that method.
Interpretation
Findings are evaluated using the test’s scientific framework, reference information and applicable clinical evidence.
Reporting
A structured report presents the findings and their meaning in relation to the original question.
05 / Quality assessment
Quality has a specific meaning at every stage.
Quality assessment follows the method. Array analysis examines signal separation and how consistently genotypes can be assigned. Sequencing assesses read quality and coverage of the requested regions. These checks establish whether the measurement supports interpretation. Reference-based analysis then connects genetic findings to the relevant model or evidence, keeping the measured result distinct from its clinical meaning.
Start with your patient’s question.
A useful test connects a defined question, an appropriate sample and a suitable method. Explore the portfolio or contact Epicheck to discuss the relevant analysis and the information it can contribute to your patient’s care.