Read the result in its clinical context
Understand ACMG/AMP categories with practical examples, evidence checks and questions to ask about a genetic report.
Why tumour and germline reports can differ, when genetics input helps, and what information makes a useful referral. Includes practical examples.
Learn why a negative genetic test may leave questions open, with practical examples of test scope, mosaicism, repeat expansions and reanalysis.
Disease guides for learning and clinical conversations
A practical guide to HFE hemochromatosis: ferritin, transferrin saturation, genetic results, reduced penetrance and questions for your clinician.
Understand alpha-galactosidase A deficiency, GLA testing, Fabry disease in women and why normal enzyme activity may not exclude the diagnosis.
Distinguish hereditary and wild-type ATTR amyloidosis, understand TTR testing and learn which questions a specialist assessment needs to answer.
Understand the method before interpreting the finding
Learn what RNA sequencing can reveal about splicing and expression, with practical examples, tissue limitations and evidence from long-read RNA studies.
Understand when long-read sequencing may help after an inconclusive test, with examples of phase, repeat expansions and diagnostic-yield claims.
Understand personalised base editing, the published CPS1 case, safety questions and how to judge evidence from one patient without overinterpreting it.
The language of DNA, genes, chromosomes and inheritance.
Understand genetic tests, their possibilities and their limits.
Explore methods, emerging technologies and the evidence behind discovery.
Pregnancy, childhood, inherited conditions and the diagnostic journey.
Inherited predisposition, tumour testing and the questions that connect them.
Phenotypes, variants and genomic analysis for health professionals.
A small selection of source links to explore alongside our guides. Listings are not our reporting or an endorsement of a study.