XomeDx® Prenatal Comprehensive
Use
XomeDx® Prenatal Comprehensive offers expedited clinical exome sequencing for pregnancies with fetal anomalies, aimed at rapidly identifying molecular diagnoses when standard cytogenetic testing (such as CMA and karyotype) is non-diagnostic. It evaluates pathogenic, likely pathogenic, and select novel candidate gene variants to inform prenatal decision-making.
Special Instructions
Expedited turnaround time for current pregnancy with fetal anomalies. Uses phenotype-driven interpretation including HPO and HGMD, comparing fetal exome to population databases and family member sequences for variant evaluation. A separate report is issued only for the proband, even when parental samples are submitted.
Limitations
Not all variants may be detectable; VUS may be reported when evidence is compelling. Analytical scope limited to coding regions (~20,000 genes). Family member specimens must arrive within three weeks of the proband’s sample. Interpretation may require comprehensive phenotype and family history for accuracy.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Tissue
Volume
Not provided
Minimum Volume
Not provided