Test Directory

Test Code
C5320
Test Name
Cardiac Channelopathy NGS Panel
CPT Codes
81413
Expected Turnaround Time
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Clinical Utility
Genetic analysis to provide a molecular diagnosis of a cardiac channelopathy disorder. 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. Recommended for individuals with a personal and/or family history of cardiac channelopathy to ensure appropriate treatment and establish recurrence risk for family members.
Specimen and Container Info

Non-Prenatal Specimens


Preferred/Alternate

Specimen Type

Containers

Volume

Preferred Specimen Type

Whole Blood

Lavender Top (EDTA)

3 mL

Alternate Specimen Type

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

Alternate Specimen Type

Fibroblasts

T-25 Flasks

2 confluent T-25 flasks, filled to capacity

Alternate Specimen Type

Saliva (Whole blood is recommended for CNV)

DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children

Follow kit instructions (www.dnagenotek.com)


Prenatal Specimens

Either specimen type below is acceptable.


Specimen Type

Containers

Volume

Cultured cells

T-25 Flasks

2 confluent T-25 flasks derived from amnio or CVS samples.

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.


NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico.

Transport Instructions
  • Transport at room temperature within 24 hours.
  • If the specimen cannot be transported to the lab within 24 hours, refrigerate for up to 72 hours.
  • Do not freeze or expose to extreme temperatures, refrigerate for up to 72 hours if cannot be transported to lab within 24 hours. 
Stability Requirements

Room Temperature

24 hours

Refrigerated

72 hours

Causes for Rejection
  • Improperly labeled specimen (minimum of two patient identifiers)
  • Inappropriate specimen type
  • Incomplete or incorrect test request form
  • Insufficient volume
  • Specimen has leaked in transit
  • Specimen without a test order
Methodology
Next Generation Sequencing and Copy Number Variation Analysis
Performing Location
Genomics - Snowdrift
Description

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.


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

Testing Schedule
Monday-Friday
Genes
SCN1B, SNTA1, SCN10A, CACNB2, SCN3B, KCNQ1, KCND3, NOS1AP, ABCC9, SCN5A, KCNE5, KCNJ2, CALM3, CAV3, CALM2, KCNE1, KCND2, RYR2, KCNH2, CASQ2, KCNE3, SLMAP, HCN4, KCNJ8, FGF12, CALM1, SCN4B, SEMA3A, CACNA2D1, CACNA1C, TECRL, RANGRF, GPD1L, TRPM4, SCN2B, AKAP9, KCNE2, KCNJ5, ANK2, TRDN, PKP2
Disease Group
Cardiovascular Disorders