XomeDx® - Trio
Use
Trio exome sequencing (patient plus both biological parents) improves diagnostic sensitivity by enabling inheritance and segregation analysis, enhancing variant interpretation and diagnostic yield compared to proband-only sequencing.
Special Instructions
Ordering requires specimens from proband and both parents to be submitted, ideally together and within three weeks, with family member information and consents as applicable. A completed order form signed by provider, patient/guardian, and for relatives, their consents, is required.
Limitations
Parental specimens are used solely to aid analysis of the patient’s results; no independent relative report is issued. Sequencing requires sufficient DNA quality and quantity, and failure to include family members may reduce sensitivity and increase variants of uncertain significance.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
2‑5 mL
Minimum Volume
Not provided
Container
Lavender top tube (EDTA)
Other tests from different labs that may be relevant