EDTA blood or DNA; prenatal material must be reviewed in advance.
DIAGNOSTIC METHODS
Segregation Analysis
Targeted testing of a previously identified variant for carrier, predictive, familial, or prenatal clarification.
Variant-specific Sanger sequencing, MLPA, qPCR, or another appropriate confirmation method.
Focused interpretation of whether the documented familial variant is present.
Usually under 4 weeks; prenatal cases are typically about 2 weeks.
CLINICAL VALUE
Where this test is strongest
✓Tests the exact familial finding
✓Method matched to variant type
✓Supports inheritance clarification
✓Prenatal route available
LIMITATIONS
What must remain visible
!A copy of the original report is normally required.
!This does not screen the full gene or genome unless explicitly ordered.
GENE & ANALYTICAL SCOPE
Scope confirmed per case
No standard gene list: the scope is the exact documented familial variant.
Known familial variantCase-specific analytical scope+
The original gene, transcript, variant nomenclature, and method are reviewed before confirmation.
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.