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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