Long QT Syndrome – Extended Panel [32 genes]

Long QT syndrome is a genetic disease associated with abnormal cardiac ion channel function, which manifests itself through the lengthening of the QT interval on the electrocardiogram. This abnormality predisposes to the development of ventricular arrhythmias that can lead to syncope, cardiac arrest and sudden death; these can be the first manifestations of the disease at any age. The transmission pattern is generally autosomal dominant, with the recessive form of the disease being much rarer (Jervell and Lange-Nielsen syndrome, where it is associated with neurosensorial loss of hearing).

  • Patients with diagnosed long QT syndrome (Schwartz score >3 or QTc >500 ms).
  • Patients under clinical suspicion of long QT syndrome: Asymptomatic subjects with serial ECGs showing QTc values >460 ms (prepubescent) or >480 ms (adults). Subjects with a personal or family history of sudden death. Subjects with a history of syncope of unknown origin. Subjects with ventricular fibrillation of unknown origin.
  • Relatives of patients with genetic diagnosis of long QT syndrome.

The yield of genetic testing in correctly characterized subjects is approximately 75%-80%. The clinical specificity of the test is close to 95%. The positive clinical predictive value (possibility of carriers developing the disease throughout their life) depends on the identified variant, with an average of 60%. Around 5% of cases can be carriers of more than one variant in the same or different genes

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Long QT Syndrome - Extended Panel

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Turnaround time (TAT): 5 weeks

Ref. S-201906403

Long QT Syndrome – Extended Panel: View panel

  • This panel includes priority genes that are most frequently associated with the development of long QT syndrome. It also includes secondary genes associated with this entity, although with a lower level of evidence, as well as candidate genes of which only functional evidence of association exists.
  • It is indicated in those cases where an unequivocal clinical diagnosis of long QT syndrome exists and no mutations were identified by the 8-gene panel. This allows identifying variants potentially associated with the phenotype in those genes where the responsible mutations are less prevalent.
  • It should be considered as a first approach when an exhaustive genetic study of this pathology is intended, since this is the most complete panel on the market. The extended study can also be useful in families under suspicion of complex genotypes, with an important variability in phenotypic expression among its members

  • CACNA1C
  • CALM1
  • CALM2
  • CALM3
  • KCNE1
  • KCNE2
  • KCNH2
  • KCNJ2
  • KCNQ1
  • SCN5A
  • AKAP9
  • ANK2
  • CAV3
  • KCNJ5
  • RYR2
  • SCN4B
  • SLC22A5
  • SNTA1
  • TECRL
  • TRDN
  • CAVIN1*
  • FHL2*
  • HCN4*
  • KCNA5*
  • KCND2*
  • KCND3*
  • KCNE3*
  • KCNE5*
  • NOS1AP*
  • SCN1B*
  • SCN3B*
  • TRPM4*

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.

Related panels
Arrhythmias and Sudden Death without Structural Cardiopathy General Panel [90 genes]

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Cardiomyopathies, Arrhythmias, and Sudden Death General Panel [251 genes]

Panel that include long QT syndrome genes

Cardiovascular Diseases General Panel [405 genes]

Panel that include long QT syndrome genes

References

  • HRS/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.
  • Recommendations for the use of genetic testing in the clinical evaluation of inherited cardiac arrhythmias associated with sudden cardiac death: Canadian Cardiovascular Society/Canadian Heart Rhythm Society joint position paper. Gollob MH et al, Can J Cardiol. 2011 Mar-Apr;27(2):232-45. • Clinical utility gene card for: long-QT syndrome (types 1-13). Beckmann BM1, Wilde AA, Kääb S.et al. Eur J Hum Genet. 2013 Oct;21(10).
  • Genetic testing for long QT syndrome and the category of cardiac ion channelopathies. Modell SM, Bradley DJ, Lehmann MH. PLoS Curr. 2012 May 3.