1–2 ml EDTA blood or 1–2 µg genomic DNA. Alternative material must be confirmed before collection or shipment.
PREVENTION · PRV05
Familial Hypercholesterolemia Prevention
Evaluates genetic causes of familial hypercholesterolemia that can lead to markedly elevated LDL cholesterol and premature cardiovascular disease.
Targeted next-generation sequencing of the complete coding sequence and relevant splice regions of the selected genes; this is not a hotspot-only screen.
Clinically classified findings, an explanation of the inherited risk, and recommendations for medical follow-up or preventive discussion.
Confirmed after case and sample review.
CLINICAL VALUE
Where this test is strongest
✓Focused 4-gene scope
✓Covers dominant and recessive familial hypercholesterolemia
✓May support cascade testing
✓Can inform earlier LDL surveillance and treatment discussion
LIMITATIONS
What must remain visible
!A predisposition is not a diagnosis and does not predict if or when disease will occur.
!A negative result does not remove all inherited or non-genetic risk; selection and interpretation require medical context.
GENE & ANALYTICAL SCOPE
4 published genes
Focused analysis of the four core familial-hypercholesterolemia genes.
HypercholesterolemiaPRV05 · 4 published genes+
Complete panel scope (4 genes).
APOBLDLRLDLRAP1PCSK9
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.