| > Lab Requisition.pdf |
| > Informed Consent for Genetic Testing.pdf |
| > Advance Beneficiary Notice of Noncoverage.pdf |
| > Private Insurance Noncoverage Acknowledgement.pdf |
| Testing | CASQ2 and targeted sequencing of RYR2 exons most likely to harbor disease-causing mutations. |
| 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 | 4-6 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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