← Change clinical scenario
SELECTED SCENARIO · 06
Known gene or documented familial variant
Focused confirmation instead of broad discovery testing.
Clinical test selectorStep 2 of 4
- ✓Clinical scenario
- 2Diagnostic objective
- 3Available material
- 4Recommendation
STEP 2
What must the test help answer?
Select the primary diagnostic objective. Alternatives will be shown after the material check.
One gene is strongly suspected, but no variant is known
Sequence the gene and confirm dosage coverage.
The exact familial variant is documented
Test only the known finding in a relative.
The old report is unclear or incomplete
Review nomenclature, classification, and inheritance first.
Cannot define one primary objective?
For complex phenotypes, conflicting previous results, or unclear tumor questions, begin with a case review instead of forcing a selection.
Prepare a case enquiry →