ExomeDx™ Prenatal (Duo)
Use
Clinical exome sequencing to identify the molecular basis of fetal anomalies when chromosomal microarray (CMA) and karyotype are non‑diagnostic, enhancing diagnostic yield in prenatal settings with a comprehensive analysis of protein-coding regions across ~20,000 genes. Duo testing includes the proband (fetal specimen) and one parental specimen to allow for maternal cell contamination assessment and improved variant interpretation.
Special Instructions
Available for proband, duo, or trio configurations. A maternal blood or buccal sample is required for maternal cell contamination studies. Reflex to exome testing is automatic when CMA or panel testing does not provide a diagnosis, using the same sample without new ordering steps or delays.
Limitations
Turnaround time estimates are ~2 weeks; there may be delays if billing, clinical review, or sample quality issues arise. The test analyzes only exonic regions (~2% of the genome); non‑coding, structural, or repeat variants beyond designed regions may not be detected. Maternal cell contamination may interfere if proper parental samples are not provided.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14 days
Related Documents
For more information, please review the documents below
Specimen
Amniotic Fluid
Volume
Not provided
Minimum Volume
Not provided