Catecholaminergic Polymorphic Ventricular Tachycardia Panel [10 genes]

Polimórfica Catecolaminérgica

Catecholaminergic polymorphic ventricular tachycardia is a rare genetic condition characterized by the development of typical ventricular arrhythmias triggered by physical or emotional stress. The development of ventricular arrhythmias can lead to syncope, cardiac arrest or sudden death, occurring especially in children or young adults with no background of cardiac abnormalities. The inheritance pattern is autosomal dominant, although a significant proportion of cases present de novo mutations (mutations absent in both parents).

  • Patients diagnosed with or under diagnostic suspicion of catecholaminergic polymorphic ventricular tachycardia: probands or relatives who, having a structurally normal heart and normal ECG, develop bidirectional ventricular tachycardia or polymorphic extrasystoles induced by catecholamines or exercise.
  • It might be considered for subjects with personal or familial history of sudden death or syncope of unknown origin.
  • Subjects with ventricular fibrillation of unknown origin.
  • Relatives of patients with genetic diagnosis of catecholaminergic polymorphic ventricular tachycardia.

The test yield is high in patients with a clearly established clinical diagnosis is around 70%-80%. Clinical specificity is 95%. The predictive value of the test (probability of carriers developing the disease throughout their life) is 80%. Within this group, it is estimated that 30% of subjects may present sudden death in the absence of treatment

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Three sample types: saliva, peripheral blood or genomic DNA

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Catecholaminergic Polymorphic Ventricular Tachycardia Panel

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Turnaround time (TAT): 4 weeks

Ref. S-201906405

Catecholaminergic Polymorphic Ventricular Tachycardia Panel: View panel

  • This panel includes the two genes associated with the development of catecholaminergic polymorphic ventricular tachycardia and another group of genes associated with phenotypes that, since they present bidirectional or polymorphic ventricular arrhythmia, constitute differential diagnoses of this entity.

  • CASQ2
  • KCNJ2
  • RYR2 ANK2
  • CALM1
  • CALM2
  • CALM3
  • TECRL
  • TRDN
  • SCN5A*

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

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References

  • RS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013. Priori SG et al. Heart Rhythm. 2013 Dec;10(12):1932-63.
  • HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Ackerman MJ, Priori SG, et al. Europace. 2011 Aug;13(8):1077-109.