Cardiac channelopathy NGS panel

Cardiac channelopathies encompasses disorders that affect cardiac conduction. They include Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, long QT syndrome, and short QT syndrome. They are characterized by malignant arrhythmias and a high risk of sudden cardiac death in individuals without under laying structural heart disease.

The cardiac channelopathy NGS panel consists of forty-one genes:  ABCC9, AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, FGF12, GPD1L, HCN4, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, PKP2, NOS1AP, RANGRF, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCN10A, SEMA3A, SLMAP, SNTA1, TECRL, TRDN and TRPM4.

Copy number variation (CNV) analysis of the cardiac channelopathty genes is also offered as a panel. Additionally, CTGT offers a comprehensive test (both NGS and CNV panels) for these genes. Panel genes are also offered as individual sequencing and deletion/duplication tests unless otherwise indicated.

Gene Disorder MIM Inheritance
ABCC9 Atrial fibrillation, familial, 12 (ATFB12)
Cardiomyopathy, dilated, 10 (CMD10)
Cantu syndrome		 614050
608569
239850		 AD
AD
AD
AKAP9 Long QT syndrome 11 (LQT11) 611820 AD
ANK2 Brugada syndrome, ANK2 related
Cardiac arrhythmia, ankyrin-B-related / Long QT syndrome 4 (LQT4)		 -
600919		 AD
AD
CACNA1C Brugada syndrome 3 (BRGDA3)
Timothy syndrome (TS)		 611875
601005		 AD
AD
CACNA2D1 Brugada syndrome, CACNA2D1 related
Short QT syndrome, CACNA2D1 related		 -
-		 AD
AD
CACNB2 Brugada syndrome 4 (BRGDA4) 600003 AD
CALM1 Ventricular tachycardia, catecholaminergic polymorphic, 4 (CPVT4)
Long QT syndrome 14 (LQT14)		 614916
616247		 AD
AD
CALM2 Ventricular tachycardia, catecholaminergic polymorphic, CALM2 related
Long QT syndrome 15 (LQT15)		 -
616249		 AD
AD
CALM3 Long QT syndrome, CALM3 related
Ventricular tachycardia, catecholaminergic polymorphic, CALM3 related		 -
-		 AD
AD
CASQ2 Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2) 611938 AR
CAV3 Sudden infant death syndrome, CAV3 related
Cardiomyopathy, familial hypertrophic, 1 (CMH1)
Long QT syndrome 9 (LQT9)		 -
192600
611818		 AD
AD
AD
FGF12 Brugada syndrome, FGF12 related - AD
GPD1L Brugada syndrome 2 (BRGDA2) 611777 AD
HCN4 Brugada syndrome 8 (BRGDA8)
Sick sinus syndrome 2 (SSS2)		 613123
163800		 AD
AD
KCND2 Brugada syndrome, KCND2 related - AD
KCND3 Brugada syndrome 9 (BRGDA9) 616399 AD
KCNE1 Long QT syndrome 5 (LQT5)
Jervell and Lange-Nielsen syndrome 2 (JLNS2)		 613695
612347		 AD
AR
KCNE2 Long QT syndrome 6 (LQT6)
Atrial fibrillation, familial, 4 (ATFB9)		 613693
611493		 AD
AD
KCNE3 Brugada syndrome 6 (BRGDA6) 613119 AD
KCNE5 Brugada syndrome, KCNE5 related - XL
KCNH2 Brugada syndrome, KCNH2 related
Long QT syndrome 2 (LQT2)
Short QT syndrome 1 (SQT1)		 -
613688
609620		 AD
AD
AD
KCNJ2 Atrial fibrillation, familial, 4 (ATFB9)
Long QT syndrome 7 (LQT7), Andersen syndrome
Short QT syndrome 3 (SQT3)
Ventricular tachycardia, KCNJ2 related		 613980
170390
609622
-		 AD
AD
AD
AD
KCNJ5 Long QT syndrome 13 (LQT13) 613485 AD
KCNJ8 Sudden infant death syndrome, KCNJ8 related
Ventricular fibrillation, KCNJ8 related
Cantu syndrome, KCNJ8 related		 -
-
-		 AD
AD
AD
KCNQ1 Atrial fibrillation, familial, 3 (ATFB3)
Jervell and Lange-Nielsen syndrome 1 (JLNS1)
Long QT syndrome 1 (LQT1)
Short QT syndrome 2 (SQT2)		 607554
220400
192500
609621		 AD
AR
AD
AD
PKP2 Brugada syndrome, PKP2 related
Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9)		 -
609040		 AD
AD
NOS1AP Long QT syndrome, NOS1AP related - AD
RANGRF Brugada syndrome, RANGRF related - AD
RYR2 Arrhythmogenic right ventricular dysplasia 2 (ARVD2)
Ventricular tachycardia, catecholaminergic polymorphic, 1 (CPVT1)
Long QT syndrome, RYR2 related		 600996
604772
-		 AD
AD
AD
SCN1B Brugada syndrome 5 (BRGDA5)
Atrial fibrillation, familial, 13 (ATFB13)		 612838
615377		 AD
AD
SCN2B Brugada syndrome, SCN2B related
Atrial fibrillation, familial, 14 (AFTB14)		 -
615378		 AD
AD
SCN3B Brugada syndrome 7 (BRGDA7)
Atrial fibrillation, familial, 16 (AFTB16)		 613120
608214		 AD
AD
SCN4B Long QT syndrome 10 (LQT10)
Atrial fibrillation, familial, 17 (ATFB17)		 611819
611819		 AD
AD
SCN5A Atrial fibrillation, familial, 10 (AFTB10)
Brugada syndrome 1 (BRGDA1)
Cardiomyopathy, dilated, 1E (CMD1E)
Heart block, progressive, type IA (PFHB1A)
Long QT syndrome 3 (LQT3)
Sick sinus syndrome 1 (SSS1)
Ventricular fibrillation, familial, 1 (VF1)		 614022
601144
601154
113900
603830
608567
603829		 AD
AD
AD
AD
AD
AR
AD
SCN10A Brugada syndrome, SCN10A related - AD
SEMA3A Brugada syndrome, SEMA3A related - AD
SLMAP Brugada syndrome, SLMAP related - AD
SNTA1 Long QT syndrome 12 (LQT12) 612955 AD
TECRL Ventricular tachycardia, catecholaminergic polymorphic, 3 (CPVT3) 614021 AR
TRDN Long QT syndrome, TRDN related
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness (CPVT5)		 -
615441		 AR
AR
TRPM4 Brugada syndrome, TRPM4 related
Progressive familial heart block, type IB (PFHB1B)		 -
604559		 AD
AD

Genes(s)

CACNB2 RANGRF PKP2 SNTA1 SCN3B GPD1L AKAP9 SCN10A CALM1 NOS1AP SCN5A ABCC9 TECRL CASQ2 KCNJ5 CALM3 TRPM4 SCN2B CAV3 KCNE1 RYR2 KCNH2 SLMAP TRDN SEMA3A CALM2 KCND2 KCNE2 KCNE5 CACNA2D1 ANK2 KCND3 FGF12 HCN4 KCNJ8 KCNE3 KCNJ2 SCN1B SCN4B KCNQ1 CACNA1C

Disease Group(s)

Cardiovascular disorders

Billing

81413 x 1,81414 x 1

Ordering

Test Code
5320
Additional Test Codes
5318 —Next Generation Sequencing Only, 5319 — Deletion / Duplication Only
Turnaround Time
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Prenatal Specimens
Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples Genomic DNA: minimum of 3 µg (at a concentration of at least 30 ng/µl)
Non-Prenatal Specimens
Whole blood: purple-top (EDTA) tube, minimum of 3 ml Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl) Fibroblasts: 2 confluent T-25 flasks Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Shipping
Ship all specimen types at room temperature by overnight courier. Do not freeze. For more details and to download the required forms, please visit our shipping page.

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