1–2 ml EDTA blood or 1–2 µg genomic DNA. Alternative material must be confirmed before collection or shipment.
DIAGNOSTIC METHODS
Array CGH
Detects chromosomal gains and losses at higher resolution than conventional karyotyping.
Genome-wide comparative genomic hybridization, with an indicative resolution around 50–100 kb.
Clinically interpreted copy-number findings and recommended follow-up.
Typically 3–4 weeks after accepted sample receipt.
CLINICAL VALUE
Where this test is strongest
✓Genome-wide CNV screen
✓Useful first-line method for selected syndromic presentations
✓Higher resolution than conventional karyotyping
✓Parental follow-up can be planned
LIMITATIONS
What must remain visible
!Does not detect most single-nucleotide variants.
!Balanced rearrangements and low-level mosaicism may need another method.
GENE & ANALYTICAL SCOPE
Scope confirmed per case
No gene list: this is a genome-wide copy-number method.
Genome-wide CNV scopeCase-specific analytical scope+
Chromosomal deletions and duplications at the confirmed platform resolution.
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.