1–2 ml EDTA blood or 1–2 µg genomic DNA. Alternative material must be confirmed before collection or shipment.
PREVENTION · PRV13
Inherited Kidney Disease Prevention
Targets PKD1 and PKD2, the central genes for autosomal-dominant polycystic kidney disease; it is not a broad kidney-disease panel.
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
✓Clear 2-gene indication
✓Full sequence analysis
✓Can support earlier renal surveillance discussion
✓Useful for familial risk clarification
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.
!This module is focused on PKD1/PKD2 and does not cover the full spectrum of inherited kidney disease.
GENE & ANALYTICAL SCOPE
2 published genes
Focused analysis of PKD1 and PKD2.
Kidney diseasePRV13 · 2 published genes+
Polycystic-kidney focused scope (2 genes).
PKD1PKD2
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.