1–2 ml EDTA blood or 1–2 µg genomic DNA. Alternative material must be confirmed before collection or shipment.
DIAGNOSTIC METHODS
Single Gene Analysis
Sequence analysis of a selected gene, with deletion/duplication methods available for many genes.
Sanger sequencing or another established gene-specific method; MLPA, qPCR, or fragment analysis where appropriate.
Clinically interpreted result for the requested gene and confirmed variant types.
Usually under 4 weeks; prenatal cases are typically about 2 weeks after accepted sample receipt.
CLINICAL VALUE
Where this test is strongest
✓More than 700 established single-gene analyses in the referenced portfolio
✓Deletion/duplication analysis for more than 350 genes
✓Focused and efficient when the hypothesis is strong
✓Prenatal route available
LIMITATIONS
What must remain visible
!The requested gene must fit the phenotype.
!A broader panel or exome can be better for genetically heterogeneous disease.
GENE & ANALYTICAL SCOPE
Scope confirmed per case
The gene and included variant types are confirmed per request.
Requested geneCase-specific analytical scope+
Enter the gene in the enquiry; sequencing and deletion/duplication coverage are confirmed before testing.
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.