Arrhythmia NGS panel

Genes
(full
coding region):		 ABCC9, AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CASQ2, CAV3, DES, DSC2, DSG2, DSP, FLNC, GJA5, GPD1L, HCN4, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ8, KCNQ1, LMNA, NEBL, NKX2-5, NPPA, PITX2, PKP2, PLN, PRDM16, PRKAG2, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SNTA1, TGFB3, TMEM43

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

  1. Confirmation of clinical diagnosis
  2. Testing of individuals with an unexplained arrhythmia/sudden cardiac arrest
  3. Identification of potentially at-risk family members
  4. Genetic counseling

Cardiac arrhythmia is a group of conditions where the heartbeat is irregular, too slow, or too fast. The main types of arrhythmia are bradycardias, extra beats, supraventricular arrhythmias, and ventricular arrhythmias. Supraventricular arrhythmias include atrial fibrillation, atrial flutter, and paroxysmal supraventricular tachycardia. Ventricular arrhythmias are ventricular fibrillation and ventricular tachycardia. Extra beats include premature atrial contractions, premature ventricular contractions and premature junctional contractions.

Arrhythmias are caused by the problems with the electrical conduction system of the heart. Some types of arrhythmia are not serious, some can lead to life-threatening complications such as stroke, heart failure, or sudden cardiac arrest.

References:

Giudicessi JR, Ackerman MJ 2013 “Genetic testing in heritable cardiac arrhythmia syndromes: differentiating pathogenic mutations from background genetic noise”. Curr Opin Cardiol. 2013 Jan; 28(1): 63–71. doi: 10.1097/HCO.0b013e32835b0a41
Martin C. et al 2012. “Sudden cardiac death and Inherited channelopathy: the basic electrophysiology of the myocyte and myocardium in ion channel disease”. Heart. 98 (7): 536–543. doi:10.1136/heartjnl-2011-300953.
Mehra R 2007. “Global public health problem of sudden cardiac death”. Journal of Electrocardiology. 40 (6 Suppl): S118–22.
“What Is Arrhythmia?”. National Heart, Lung, and Blood Institute. July 1, 2011.