← Change diagnostic objective
Unexplained phenotype or suspected rare disease
Symptoms are broad or do not fit one syndrome
Exome-wide analysis is usually more useful than a narrow panel.
Clinical test selectorStep 3 of 4
- ✓Clinical scenario
- ✓Diagnostic objective
- 3Available material
- 4Recommendation
STEP 3
What material or documentation is available?
This changes both the preferred test and the practical warning shown in the result.
Patient + both parents
Enables direct inheritance analysis.
Patient sample only
Single-sample exome, panel, array, or gene testing remains possible.
Records only / sample not yet collected
Review first to avoid the wrong collection.
Do not collect based on this page alone.
The accepted tube, quantity, quality, pathology information, consent, storage, and shipping conditions must be confirmed for the selected workflow.