ExomeDx by WGS Duo
Use
ExomeDx by WGS Duo is a clinical diagnostic test intended to identify genetic variants across the coding regions of the genome for individuals with suspected genetic disorders. As a duo-based exome sequencing test, it analyzes both the affected individual and a relative to improve variant interpretation and inheritance pattern elucidation.
Special Instructions
Test is available only as duo (patient plus one relative). A completed test order and, if required, relative consents must be submitted. Clinical notes and family history documentation are recommended to support interpretation.
Limitations
Limitations include those inherent to exome sequencing: inability to detect deep intronic or regulatory region variants, structural variants beyond exon-level CNVs, mitochondrial variants unless additional testing is done, and limitations in repetitive or GC-rich regions. Duo testing improves interpretation, but residual uncertainty remains.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14 days
Related Documents
For more information, please review the documents below
Specimen
Extracted DNA
Volume
≥5 µg (5,000 ng) of DNA, ≥50 ng/µl & ≥100 µl
Minimum Volume
Not provided
Container
1.5 ml–2.0 ml microtube
Collection Instructions
DNA extracted in CLIA-certified lab; dissolved in low‑EDTA TE buffer; label with patient name + second identifier
Storage Instructions
Ship at ambient temperature (cool pack if hot) or frozen on dry ice