Tier 1a Testing CASQ2 sequencing is warranted when an autosomal recessive inheritance is compatible with the clinical presentation.
Tier 1b Testing Targeted sequencing of RYR2 exons most likely to harbor disease-causing mutations.
Tier 2 If the RYR2 targeted exon screening is negative and clinical suspicion remains high, screening of the remaining RYR2 exons will be performed.
Methodology DNA sequencing by capillary electrophoresis
Indications for Molecular Testing Comprehensive or targeted CPVT genetic testing is recommended for any patient in whom a cardiologist has established a clinical index of suspicion for CPVT, based on examination of the patient’s clinical history, family history, and expressed electrocardiographic phenotype during provocative stress testing with cycle, treadmill, or catecholamine infusion.
Mutation-specific genetic testing is recommended for family members and appropriate relatives following the identification of the CPVT- causative mutation in an index case.
Clinical Utility Confirm diagnosis
Identify disease-causing mutation in affected individual
Differential diagnosis
Predictive testing
Risk assessment in relatives
Timely therapeutic interventions with β-blockers
Clinical Sensitivity 55%
Analytic Sensitivity Substitutions: 100%
Small InDels: ~95%
Turnaround Time Tier 1: 6-8 weeks
Tier 2: 4 weeks
CPT Codes RYR2: 81408
CASQ2: 81405
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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