Patient and both parents: 1–2 ml EDTA blood or 1–2 µg genomic DNA per person; DBS, buccal swab, or saliva can be reviewed.
EXOME DIAGNOSTICS
Trio ExomeXtra
Analyzes the patient with both biological parents to identify de novo, inherited, compound-heterozygous, X-linked, UPD, and parental-mosaic patterns.
Single ExomeXtra scope plus family-based inheritance analysis, UPD, de novo and compound-heterozygous assessment, and parental mosaic review.
Phenotype- and inheritance-based interpretation of sequence, mitochondrial, mosaic, CNV, aneuploidy, and UPD findings.
Typically 3–4 weeks after all accepted samples are received.
CLINICAL VALUE
Where this test is strongest
✓5–15 percentage-point higher diagnostic yield than single analysis in the referenced portfolio
✓Direct de novo and inheritance assessment
✓Genome-wide CNV and UPD analysis
✓Reduces candidate uncertainty
LIMITATIONS
What must remain visible
!Correct biological relationships and suitable samples from all three people are required.
!A negative result cannot exclude every genetic cause.
GENE & ANALYTICAL SCOPE
Exome-wide scope
No fixed gene list: the exome-wide scope is interpreted across a patient–parent trio.
Trio ExomeXtra scopeCase-specific analytical scope+
Single ExomeXtra content plus inheritance, de novo, compound-heterozygous, X-linked, UPD, and parental-mosaic analysis.
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.