| > Lab Requisition.pdf |
| > Informed Consent for Genetic Testing.pdf |
| > Advance Beneficiary Notice of Noncoverage.pdf |
| > Private Insurance Noncoverage Acknowledgement.pdf |
| Gene | SCN5A |
| Methodology | DNA sequencing by capillary electrophoresis |
| Indications for Molecular Testing | Genetic testing should be conducted only in patients displaying Type 1 ECG pattern. This may include a cardiac arrest survivor, patients with syncope or asymptomatic individuals.Mutation-specific genetic testing is recommended for first-degree relatives following the identification of the BrS causative mutation in an index case. Genetic testing is not recommended for those with apparent Type2 or Type 3 ECG pattern. |
| Clinical Utility | Confirm diagnosis Identify disease-causing mutation in affected individual Genotype-Phenotype correlation Risk stratification |
| Clinical Sensitivity | 25% |
| Analytic Sensitivity | Substitutions: 100% Small InDels: ~95% |
| Turnaround Time | 2-4 weeks |
| CPT Codes | 81407 |
| 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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