|> Lab Requisition.pdf|
|> Informed Consent for Genetic Testing.pdf|
|> Advance Beneficiary Notice of Noncoverage.pdf|
|> Private Insurance Noncoverage Acknowledgement.pdf|
|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
|Analytic Sensitivity||Substitutions: 100%
Small InDels: ~95%
|Turnaround Time||2-4 weeks|
|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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