Fetal material: native or cultured amniotic fluid, chorionic villi, extracted fetal DNA, or pregnancy-loss material. Parents: 1–2 ml EDTA blood or 1–2 µg DNA each; at least a maternal sample is required for contamination control if a full trio is impossible.
EXOME DIAGNOSTICS
Prenatal ExomeXtra
A broad prenatal exome pathway for fetal findings or selected severe early-onset disorders, including inheritance, CNV, mosaic, mtDNA, and infection review.
Fetal–parent ExomeXtra including coding regions, >46,000 disease-associated non-coding regions, non-coding RNA, mtDNA, splice regions, mosaicism, genome-wide CNVs, UPD, inheritance, and selected infection screening.
Prenatal interpretation appropriate to the indication; pathogenic and likely pathogenic findings, prioritized uncertain findings where relevant, inheritance, and next-step recommendations.
Typically about 2 weeks after accepted samples are received.
CLINICAL VALUE
Where this test is strongest
✓About 2-week prenatal pathway
✓Fetus plus parents
✓Broad sequence, mtDNA, mosaic, CNV, and UPD scope
✓Screening for selected congenital infections
LIMITATIONS
What must remain visible
!Pre-test review and informed consent are essential because results may be time-sensitive and affect relatives.
!Maternal-cell contamination controls and sample suitability must be confirmed before shipment.
GENE & ANALYTICAL SCOPE
Exome-wide scope
No fixed universal gene list. With no ultrasound finding, the referenced workflow uses a >2,000-gene severe early-onset filter while also reviewing relevant pathogenic findings outside that filter.
With ultrasound findingsCase-specific analytical scope+
Phenotype-driven fetal–parent ExomeXtra across coding and disease-associated non-coding regions, mtDNA, mosaicism, CNVs, UPD, and inheritance.
No fixed gene-by-gene list applies to this scope.
Without ultrasound findingsCase-specific analytical scope+
More than 2,000 genes associated with severe early-onset disease are prioritized; the public source does not publish a fixed gene-by-gene list.
No fixed gene-by-gene list applies to this scope.
Congenital infection screenCase-specific analytical scope+
Toxoplasmosis, Varicella, CMV, Fifth disease, Syphilis, and HSV-1/2 are included in the referenced workflow.
No fixed gene-by-gene list applies to this scope.
BEFORE ORDERING
Confirm the current laboratory specification.
The official case review and quotation confirm eligibility, accepted material, validated coverage and variant classes, consent, turnaround, price, and report pathway.