1–2 ml EDTA blood or 1–2 µg genomic DNA; DBS, buccal swab, and saliva can be reviewed.
EXOME DIAGNOSTICS
ExomeFocus
Prioritizes a curated high-impact variant list across the exome while retaining coverage for clinically important coding, selected non-coding, mosaic, and copy-number findings.
Exome-based analysis with a curated high-impact variant list, mosaic-variant review, genome-wide CNV analysis, and infection screening.
Relevant SNVs, indels, CNVs, aneuploidies including mosaic findings, ACMG class 3–5 prioritization, recommendations, and family-planning relevance.
Typically 3–4 weeks after accepted sample receipt.
CLINICAL VALUE
Where this test is strongest
✓High-impact first-line filter
✓Provider reports 20% more disease-causing variants than standard WES
✓Genome-wide CNV at array-CGH-like resolution
✓Can be upgraded to Trio ExomeXtra
LIMITATIONS
What must remain visible
!This is not a fixed small gene panel; reporting follows a curated high-impact variant list.
!A negative result may warrant broader trio analysis or reanalysis.
GENE & ANALYTICAL SCOPE
Exome-wide scope
No fixed public gene list: the scope is exome-wide with a curated high-impact variant filter and phenotype review.
High-impact exome scopeCase-specific analytical scope+
Coding regions, selected disease-associated non-coding findings, mosaic variants, and genome-wide CNVs; reporting is variant- and phenotype-driven.
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.