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.
Case studies
Case 1: High-risk NIPT
Clinical question: High-risk trisomy screening.
Learning focus: Screening versus diagnosis, counselling, ultrasound and diagnostic confirmation.
Case 2: IVF with sickle-cell risk
Clinical question: Couple at risk of an affected child.
Learning focus: Molecular confirmation, PGT-M work-up, embryo biopsy and prenatal confirmation.
Case 3: Hereditary breast/ovarian cancer
Clinical question: Early-onset or familial cancer.
Learning focus: Germline testing, pathogenic variants, VUS, cascade testing and surveillance implications.
Case 4: Tumour profiling
Clinical question: Advanced malignancy with potential biomarker-linked therapy.
Learning focus: Specimen adequacy, somatic actionability, germline clues and tumour-board integration.
Case 5: Digital pathology consultation
Clinical question: Remote expert review of histopathology.
Learning focus: Slide quality, scanning validation, diagnostic concordance and escalation to glass-slide review.
Case 6: Complex kinship
Clinical question: Relationship testing where a close relative is an alternative hypothesis.
Learning focus: Pedigree accuracy, likelihood ratios and the need for additional informative relatives.
Need to discuss a complex case?
Our clinical genomics team supports test selection, result interpretation and multidisciplinary case review.