GenomeDx™ Prenatal (Proband)
Use
GenomeDx™ Prenatal (Proband) is intended for comprehensive genomic analysis of fetal anomalies when chromosomal microarray (CMA) and karyotype are non‑diagnostic, enabling detection of SNVs, CNVs, indels, intronic/regulatory variants, uniparental disomy (UPD), repeat expansions (STR), aneuploidy, polyploidy, triploidy, and maternal cell contamination (MCC) detection to help clarify genetic etiology in a prenatal context.
Special Instructions
Available for the proband only (single individual). Reflex to exome is available when CMA or targeted panels are non‑diagnostic, using the same sample without additional ordering steps or sample requirements.
Limitations
Not available in New York State (specifically for GenomeDx™ Prenatal). Turnaround time estimates are based on processing timelines and may be extended in circumstances outside the laboratory’s control.
Methodology
NGS
Biomarkers
Result Turnaround Time
14 days
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Accepts amniotic fluid, cultured amniocytes, cultured chorionic villi (CVS), products of conception (POC), and extracted DNA. A maternal blood or buccal sample is required to conduct maternal cell contamination (MCC) studies.