Read the indication first
Interpretation begins with why the test was ordered and what specimen was tested.
Interpreting reports by test type
Germline reports
Pathogenic and likely pathogenic variants may support diagnosis or inherited risk when consistent with the gene-disease relationship and phenotype. VUS findings should not independently drive irreversible clinical management.
Tumour genomic reports
Prioritize alterations with established predictive, diagnostic or prognostic relevance for the patient's tumour type. Actionability depends on evidence level, cancer context, regulatory status and patient factors.
NIPT
High-risk cell-free DNA results are screening results, not diagnoses. Confirmatory diagnostic testing should be considered before irreversible pregnancy decisions.
PGT
Euploid/aneuploid/mosaic classifications describe the tested biopsy within assay limits; they do not guarantee embryo or pregnancy outcome.
Paternity/kinship
Interpret PI/CPI or relationship likelihood ratios as statistical evidence under stated hypotheses. Complex pedigrees and related alternative fathers require appropriate statistical modelling.
Clinical use note: This resource supports professional decision making but does not replace current specialty guidelines, multidisciplinary review, the validated scope of the exact laboratory assay, or patient-specific clinical judgement.
Need help interpreting a report?
Our clinical genomics team can review complex or unexpected findings with you.