Why the test is performed
To look for pathogenic variants associated with inherited or tumour-related cancer risk.
Laboratory Testing Online / Molecular Pathology
Test and specimen
Pre-test counselling and informed consent are essential; consider implications for relatives, privacy and insurance law in the relevant country.
Laboratory results should be interpreted by a qualified professional using the correct reference interval, method, symptoms, history and other findings. A normal or abnormal value rarely confirms or excludes a condition by itself.
To look for pathogenic variants associated with inherited or tumour-related cancer risk.
Risk assessment, family counselling and selected treatment decisions when clinical criteria are met.
DNA is extracted and analysed by sequencing with deletion/duplication methods as appropriate; variants are classified under recognised frameworks.
Used in hereditary breast, ovarian, prostate and pancreatic cancer pathways. A variant result requires expert interpretation.
Genetic counselling, confirmatory/family testing, broader hereditary-cancer panels or tumour biomarkers.
Primary public reference
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