1–2 ml EDTA blood or 1–2 µg genomic DNA. Alternative material must be confirmed before collection or shipment.
PREVENTION · PRV14
ACMG Actionable Findings Prevention
Evaluates the current ACMG secondary-findings set for pathogenic or likely pathogenic variants where established preventive or early-treatment actions may be available.
Targeted NGS and interpretation according to the ACMG Secondary Findings v3.3 gene set and gene-specific reporting rules.
Pathogenic and likely pathogenic findings according to applicable gene and inheritance criteria, with recommendations for medical follow-up.
Confirmed after case and sample review.
CLINICAL VALUE
Where this test is strongest
✓84 genes in ACMG SF v3.3
✓Cross-specialty actionable scope
✓Gene-specific inheritance criteria
✓May support prevention and cascade testing
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
84 published genes
Current catalogue scope follows ACMG Secondary Findings v3.3 (84 genes).
ACMG SF v3.3PRV14 · 84 published genes+
Complete current scope (84 genes).
ABCD1ACTA2ACTC1ACVRL1APCAPOBATP7BBAG3BMPR1ABRCA1BRCA2BTDCACNA1SCALM1CALM2CALM3CASQ2COL3A1CYP27A1DESDSC2DSG2DSPENGFBN1FLNCGAAGLAHFEHNF1AKCNH2KCNQ1LDLRLMNAMAXMEN1MLH1MSH2MSH6MUTYHMYBPC3MYH11MYH7MYL2MYL3NF2OTCPALB2PCSK9PKP2PLNPMS2PRKAG2PTENRB1RBM20RETRPE65RYR1RYR2SCN5ASDHAF2SDHBSDHCSDHDSMAD3SMAD4STK11TGFBR1TGFBR2TMEM127TMEM43TNNC1TNNI3TNNT2TP53TPM1TRDNTSC1TSC2TTNTTRVHLWT1
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.