1–2 ml EDTA blood or 1–2 µg genomic DNA. Alternative material must be confirmed before collection or shipment.
RARE DISEASE
Rare Disease Panels
Disease-area panels across major rare-disease specialties, with a custom route when an existing panel does not fit.
Comprehensive panel sequencing and phenotype-guided clinical interpretation.
Clinically classified findings within the confirmed panel scope.
Confirmed for the selected panel.
CLINICAL VALUE
Where this test is strongest
✓Focused on the suspected phenotype
✓Broad specialty catalogue
✓Custom panel can be discussed
✓May reduce incidental findings
LIMITATIONS
What must remain visible
!A narrow panel can miss genes outside its scope.
!Broad or nonspecific phenotypes may be better served by exome diagnostics.
GENE & ANALYTICAL SCOPE
Scope confirmed per case
There is no single universal gene list; the selected disease panel defines the tested genes.
Phenotype-specific panelsCase-specific analytical scope+
Blood, cardiac, cilia, connective tissue, neurodevelopment, eye, hearing, immune, kidney, liver, metabolic, neurodegenerative, neuromuscular, skeletal, skin, and other specialist areas.
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.