ExomeDx™ Duo
Use
ExomeDx™ Duo is a standard clinical whole exome sequencing test conducted on a proband and one additional family member (“duo”), enabling improved variant interpretation by incorporating familial inheritance data. It is indicated for patients with suspected genetic conditions, including developmental delay, congenital anomalies, epilepsy, or multisystem involvement, where exome analysis may provide diagnostic insights beyond targeted panels.
Special Instructions
This test is available for proband, duo, or trio configurations. Ordering requires submission of a completed test order signed by the qualified healthcare provider and patient/guardian; for duo testing, relative consent and a family member specimen are also required. Clinical documentation including prior test results, consult notes, and pedigree/family history is encouraged; clinic notes within two weeks of sample receipt are required to proceed with testing.
Limitations
Turnaround times are estimates beginning when samples begin processing after billing and clinical review; actual timing may vary. The test relies on exonic and flanking regions; certain variant types or regions outside the exome (e.g., deep intronic, structural variants) may not be fully assessed. Interpretation depends on quality of submitted specimens and completeness of clinical information.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
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