Arrhythmias and sudden death without structural cardiopathy general panel [100 genes]

This panel includes those genes that can cause ventricular arrhythmias and sudden death as the first clinical manifestation. Therefore, channelopathies and some genes associated with cardiomyopathies are included, which could produce ventricular arrhythmias in a very early phase of the disease in which structural alterations may be minimal or absent, and the diagnosis of cardiomyopathy may be complicated.

It includes diseases that can cause ventricular arrhythmias and sudden death as their first clinical manifestation. Therefore channelopathies and some genes associated with cardiomyopathies but capable of producing ventricular arrhythmias without any apparent cardiac involvement are included.

This panel is mainly oriented to the diagnosis of not clearly defined phenotypes whose main manifestation is ventricular arrhythmias, such as cases of idiopathic ventricular fibrillation, cardiorespiratory arrest without structural alterations, or sudden death with a white autopsy.

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1. Download & fill out

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2. Sample collection

Three sample types: saliva, peripheral blood or genomic DNA

3. Pack the sample

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4. Send the sample & the request

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5. Result: the report

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Arrhythmias and sudden death without structural cardiopathy general panel

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Techniques: Exome, NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-201906397

Arrhythmias and sudden death without structural cardiopathy general panel: View panel

This panel includes priority genes that have a clear association with these diseases, secondary genes where there is a lesser degree of evidence, and candidate genes gathered from a systematic literature review.

  • CACNA1C
  • CALM1
  • CALM2
  • CALM3
  • CASQ2
  • DES
  • DSC2
  • DSG2
  • DSP
  • EMD
  • FLNC
  • JUP
  • KCNE1
  • KCNE2
  • KCNH2
  • KCNJ2
  • KCNQ1
  • LMNA
  • MYH7
  • NKX2-5
  • PKP2
  • PLN
  • PRKAG2
  • RYR2
  • SCN5A
  • TNNI3
  • TNNT2
  • TTN
  • ACTC1
  • AKAP9
  • ALPK3
  • ANK2
  • CACNA1D
  • CACNA2D1
  • CACNB2
  • CAV3
  • FHL2
  • GAA
  • GATA4
  • GJA5
  • GLA
  • GNB2
  • GPD1L
  • HCN4
  • HFE
  • IRX3
  • JPH2
  • KCNA5
  • KCND3
  • KCNE3
  • KCNE5
  • KCNJ5
  • KCNJ8
  • LAMP2
  • MYH6
  • MYL4
  • NAA10
  • SCN4A
  • PITX2
  • SCN1B
  • SCN2B
  • SCN4B
  • SLC22A5
  • TBX5
  • TECRL
  • TNNI3K
  • TRDN
  • TRPM4
  • TTR
  • ABCC9*
  • ATP1A3*
  • BVES*
  • CALR3*
  • CAVIN1*
  • FGF12*
  • GATA5*
  • GATA6*
  • GJA1*
  • GREM2*
  • KCND2*
  • KCNJ3*
  • KCNK17*
  • LDB3*
  • MYBPHL*
  • NKX2-6*
  • NOS1AP*
  • NPPA*
  • NUP155*
  • POPDC2*
  • RANGRF*
  • RNF207*
  • RRAD*
  • SCN10A*
  • SCN3B*
  • SEMA3A*
  • SHOX2*
  • SLMAP*
  • SNTA1*
  • TPM1*
  • ZFHX3*

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.