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CPVT Genes
MessageThis test is currently only available in BHS CPRS. If you are a Bedford provider and wish to see this test offered in Bedford CPRS- please contact the Bedford Laboratory.
Test Code
CPVT GENES(GDX#386)
Alias/See Also
Catecholaminergic Polymorphic Ventricular Tachycardia
Familial Polymorphic Ventricular Tachycardia
Familial Polymorphic Ventricular Tachycardia
Preferred Specimen
Whole blood lavender EDTA
Minimum Volume
2 mL
Transport Temperature
Room temperature
Specimen Stability
Refrigerated: 7 days
Methodology
Next-gen Sequencing
Report Available
8 weeks
Reference Range
Provided with the patient report in CPRS.
Clinical Significance
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a potentially fatal cardiac arrhythmia in individuals with a structurally normal heart. The disorder is characterized by syncope, typically beginning in the first decade of life, which may be triggered by physical activity or intense emotion. In patients with CPVT, stressinduced release of catecholamines causes a dysfunction of calcium-ion channel in myocytes. The ion channel dysfunction induces ventricular arrhythmias, which can lead to syncope or sudden cardiac death. Spontaneous recovery from the arrhythmia is possible, but the ventricular tachycardia can progress to ventricular fibrillation and sudden death. The incidence of CPVT within the population is not precisely known, but is estimated to be 1:10,000. Symptoms include syncope, dizziness, arrhythmia, and sudden cardiac death. Diagnosis may prove difficult, due to normal echocardiogram and electrocardiogram at a resting state. Testing must be performed under stress-inducing conditions in order to accurately evaluate a possible diagnosis.
Performing Laboratory
Test performed at GeneDX.
Additional Information
Link to test information on GeneDX website
Link to GeneDx Cardiology Test Requisition Form
Last Updated: November 3, 2015
