Prenatal Duo (ExomeDx™ Prenatal Duo)
Use
ExomeDx™ Prenatal Duo enables prenatal diagnostic exome sequencing for a fetus and one parent (duo) when fetal anomalies are detected via ultrasound and chromosomal microarray (CMA) and karyotype results are non‑diagnostic, thereby improving diagnostic yield over stepwise testing and facilitating faster insights critical for clinical decision‑making.
Special Instructions
Available for duo testing (proband plus one parent). GeneDx Infinity™ powers interpretation with the largest rare‑disease prenatal exome dataset. Reflex to exome is automatic when CMA or targeted panel testing is non‑diagnostic, using the same sample and without requiring a new order.
Limitations
Limitations include that it may not detect non‑exonic variants outside of captured regions, repeat expansions not covered by exome, structural abnormalities beyond sequence scope, and may be affected by maternal cell contamination requiring maternal sample. New York State restrictions may apply depending on regulatory policies.
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
Other tests from different labs that may be relevant