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GENESEQ: FAMILIAL ARRHYTHMIA
Message"For all tests, specimens must be accompanied by a completed consent form. In the case of family tests (ie, known mutations), family tests will only be accepted from family members of index case tested at LabCorp. Family tests will not be accepted if the index case was tested at a lab other than LabCorp.
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Test Code
451412
CPT Codes
81280; 81479
Includes
"This test covers all coding nucleotides of 29 genes: ANK2, ATP1B1, CACNA1C, CACNB2, CASQ2, CAV3, DSC2, DSG2, DSP, GINS3, GPD1L, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, LIG3, NOS1AP, NPPA, PKP2, PLN, RYR2, SCN1B, SCN4B, SCN5A, SNTA1, TGFB3, and TMEM43; ex
Preferred Specimen
"Whole blood
10 mL whole blood or 30 mL if ordering multiple tests
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10 mL whole blood or 30 mL if ordering multiple tests
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Transport Container
"Yellow-top (ACD) tube or lavender-top (EDTA) tube
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Transport Temperature
Room temp
Specimen Stability
"Maintain specimen at room temperature
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Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
"Frozen specimen; container broken or leaking; container not labeled or label not legible. For family test, if the index case was tested at a lab other than LabCorp
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Clinical Significance
"Confirm a clinical diagnosis of coronary artery disease and identify presymptomatic family members, guiding prophylatic measures.
Cardiac arrhythmias are generally characterized by abnormal electrical activity in the heart that puts patients at high risk for embolic stroke and/or sudden cardiac death (SCD). Commonly recognized arrhythmic disorders include atrial fibrillation (AF), long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), and Brugada syndrome (BrS).
Genetic testing for mutations in genes known to be associated with LQTS, CPVT, ARVD/C, AF and Brs can be used in conjunction with standard cardiac testing to help:
• Confirm a diagnosis
• Differentiate between arrhythmic disorders
• Clarify the prognosis, alerting patients and physicians to the most common arrhythmia triggers, which may be specific to the underlying genetic cause
• Guide therapeutic strategies
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Cardiac arrhythmias are generally characterized by abnormal electrical activity in the heart that puts patients at high risk for embolic stroke and/or sudden cardiac death (SCD). Commonly recognized arrhythmic disorders include atrial fibrillation (AF), long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), and Brugada syndrome (BrS).
Genetic testing for mutations in genes known to be associated with LQTS, CPVT, ARVD/C, AF and Brs can be used in conjunction with standard cardiac testing to help:
• Confirm a diagnosis
• Differentiate between arrhythmic disorders
• Clarify the prognosis, alerting patients and physicians to the most common arrhythmia triggers, which may be specific to the underlying genetic cause
• Guide therapeutic strategies
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