Patient: 1–2 ml EDTA blood or 1–2 µg genomic DNA; DBS, buccal swab, or saliva can be reviewed.
EXOME DIAGNOSTICS
Single ExomeXtra
Combines the coding exome with more than 46,000 disease-associated non-coding regions, non-coding RNA, mtDNA, mosaic variants, and genome-wide CNV analysis.
All coding regions, >46,000 disease-associated non-coding regions, non-coding RNA, mtDNA, upstream splice regions, mosaic variants, genome-wide CNVs, and infection screening.
Phenotype-based interpretation of relevant SNVs, indels, CNVs, aneuploidies, and mosaic findings, with recommendations and optional ACMG/HLA/pharmacogenetic add-ons.
Typically 3–4 weeks after accepted sample receipt.
CLINICAL VALUE
Where this test is strongest
✓One patient sample
✓>46,000 non-coding disease regions
✓mtDNA, mosaicism, and genome-wide CNVs
✓Provider reports 20% more disease-causing variants than standard WES
LIMITATIONS
What must remain visible
!Without parents, inheritance and de novo status may remain uncertain.
!A later segregation or trio upgrade may be recommended.
GENE & ANALYTICAL SCOPE
Exome-wide scope
No fixed gene list: analysis is exome-wide and includes additional disease-associated non-coding regions and mtDNA.
Single-sample ExomeXtra scopeCase-specific analytical scope+
All coding regions, >46,000 disease-associated non-coding regions, non-coding RNA, mtDNA, upstream splice regions, mosaic variants, and genome-wide CNVs.
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.