SELECTED SCENARIO · 01
Preventive inherited-risk assessment
Actionable predisposition or medication-response assessment in an unaffected individual.
- ✓Clinical scenario
- 2Diagnostic objective
- 3Available material
- 4Recommendation
What must the test help answer?
Select the primary diagnostic objective. Alternatives will be shown after the material check.
Cancer in the family
Breast, ovarian, prostate, digestive, endocrine, or other hereditary tumors.
Heart, rhythm, aorta, or sudden death
Inherited cardiomyopathy, arrhythmia, or aortic/vascular risk.
Clotting or unusual bleeding
Thrombosis, coagulation factors, platelets, or von Willebrand disease.
Very high LDL cholesterol
Familial hypercholesterolemia and early cardiovascular risk.
Anesthesia reaction in me or my family
Susceptibility to malignant hyperthermia.
Polycystic kidney disease in the family
Focused PKD1/PKD2 preventive analysis.
Iron or copper storage concern
Hemochromatosis, Wilson disease, or related inherited storage disorders.
Inherited retina or glaucoma risk
A focused, actionable preventive eye module.
How my genes may affect medicines
Dose, response, or adverse-reaction information for covered drugs.
Broad actionable health screen
Cross-specialty ACMG secondary-findings gene set.
For complex phenotypes, conflicting previous results, or unclear tumor questions, begin with a case review instead of forcing a selection.
Prepare a case enquiry →