Testing PKP2, DSP, DSG2, DSC2, JUP and TMEM43 genes
Methodology DNA sequencing by capillary electrophoresis
Indications for Molecular Testing Mutation-specific genetic testing is recommended for family members and appropriate relatives following the identification of the ARVC- causative mutation in an index case
Comprehensive or targeted (DSC2, DSG2, DSP, JUP, PKP2 and TMEM43) ARVC genetic testing can be useful for patients satisfying task force diagnostic criteria for ARVC.
Genetic testing may be considered for patients with possible ARVC (1 major or 2 minor criteria)
Genetic testing is not recommended for patients with only a single minor criterion
Clinical Utility Confirm diagnosis
Identify disease-causing mutation in affected individual
Early diagnosis
Phenotype prediction
Arrhythmia risk stratification
Timely therapeutic interventions with β-blockers and/or ICD to prevent sudden death
Clinical Sensitivity 30% – 40%
Analytic Sensitivity Substitutions: 100%
Small InDels: ~95%
Turnaround Time 6-8 weeks
CPT Codes PKP2 – 81406
DSG2 – 81406
DSP – 81406
DSC2 – 81406
JUP – 81406
TMEM43 – 81406
Specimen Whole blood drawn in lavender top (EDTA) tube in a volume of 3-5cc (Adults/Children) and 3 cc (infant <2 yrs).
Shipping Refrigerate sample until time of shipping. Ship sample at room temperature in an insulated container by overnight delivery.
Causes for Rejection Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container.
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