ExomeDx Prenatal, targeted
Use
ExomeDx Prenatal, targeted is used when fetal anomalies are detected by ultrasound and chromosomal microarray (CMA) and karyotype are non‑diagnostic, offering a targeted exome sequencing option that can provide a higher diagnostic yield in prenatal settings.
Special Instructions
Requires submission of amniotic fluid, cultured amniocytes, CVS, products of conception, or extracted DNA. A maternal blood or buccal sample is required for maternal cell contamination studies, and parental samples should be submitted for duo or trio analysis. Can reflex to exome when CMA or panel testing are non‑diagnostic, using the same sample with no additional ordering steps.
Limitations
Turnaround time estimates are subject to variation based on billing and clinical review; delays may occur if technical performance issues arise. The test codes and genes included are subject to change. Maternal cell contamination must be accounted for via maternal sample.
Methodology
NGS
Biomarkers
Result Turnaround Time
null-14 days
Related Documents
For more information, please review the documents below
Specimen
Amniotic Fluid
Volume
Not provided
Minimum Volume
Not provided