Clinical Exome Sequencing
- Price and CPT codes vary by the number of family members participating.
- Turnaround Time: 8-12 weeks
- Platform: Exome + del/dup analysis
Test Requisition | Technical Details
| Test | Price | CPT Code |
| Exome Proband-Only | $5600.00 | 81415 |
| Exome Duo | $6350.00 | 81415, 81416 |
| Exome Trio | $7100.00 | 81415, 81416 (2) |
| Exome Quad | $7850.00 | 81415, 81416 (3) |
Additional Information
The DNA Diagnostic Laboratory largely follows the ACMG version 3.2 guidelines for reporting secondary findings. The list of genes included in secondary findings is included in the Technical Details.
Resources
- Questions about obtaining consent for exome testing? Reference our handout or reach out to our team.
- An informative table showing these genes with associated categories and syndromes: NCBI ClinVar - ACMG Recommendations Table
- The manuscript describing the current recommendations is available through PubMed: ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)