← Change clinical scenario
SELECTED SCENARIO · 03
Unexplained phenotype or suspected rare disease
Panel, exome, copy-number, or single-gene diagnosis.
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.
Symptoms are broad or do not fit one syndrome
Exome-wide analysis is usually more useful than a narrow panel.
Patient and both parents can be tested
Adds inheritance, de novo, UPD, and parental-mosaic information.
The phenotype points to a disease group
A specialist panel can reduce irrelevant findings.
We want a high-impact first exome step
Curated high-impact filtering with an upgrade path.
Deletion or duplication is the main concern
Genome-wide copy-number testing.
One gene is strongly suspected
Focused gene-specific sequencing or dosage analysis.
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 →