GenomeDx™ Trio (Test Code 931)
Use
GenomeDx Trio testing analyzes the exome or genome of an affected child (proband) along with both biological parents to improve diagnostic accuracy and interpretation of variants of uncertain significance. Trio sequencing increases diagnostic yield and aids in assessing recurrence risk for genetic diseases, providing more definitive family-based analyses compared to proband-only testing.
Special Instructions
This panel requires submission of proband and both parental samples simultaneously, with associated clinical information, to initiate processing. Order forms must designate sample relationships. This test is best suited when a rapid or high-confidence molecular diagnosis is needed.
Limitations
Interpretation may still face challenges if parental samples are missing, degraded, or mislabeled, potentially increasing variants of uncertain significance. Turnaround time estimates begin when samples reach the lab. Approval may be required prior to sample submission.
New York Approved
Methodology
NGS
Biomarkers
Result Turnaround Time
5-14 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Container
Lavender Top Tube (EDTA)
Collection Instructions
Submit 2–5 mL blood in a lavender top tube