Page 3 - 40163_Cardiology Overview Brochure modi 181217 copy

Arrhythmia Testing

forms of arrhythmia are caused by pathogenic variants in genes that code for the ion channels and associated regulatory
factors that help regulate the heart’s normal rhythm.

Personal and Family History Red Flags

Arrhythmias or “Irregular heartbeat” Unexplained syncope and/or syncope with emotional distress or
exercise
ICD/Pacemaker placement at <50 years of age
Unexplained seizures or seizures with a normal neurological
Unexplained cardiac arrest(s) or sudden death evaluation
Sudden infant death syndrome (SIDS) Unexplained accidents such as drowning of an experienced
swimmer or single car accidents

Arrhythmia Panels at GeneDx

Arrhythmia
CACNA2D1 NKX2.5
HCN4 RANGRF
KCNE1L ^

ABCC9 Brugada Syndrome
CACNB2 GPD1L
KCND3 KCNE3 (BrS)
KCNJ8
Short QT Syndrome SCN10A
(SQTS) CACNA1C
SCN1B ^
SCN2B
SCN3B
KCNH2 TRPM4
KCNQ1
PKP2
Long QT Syndrome SCN5A
(LQTS)
AKAP9 KCNE2
KCNJ2 ANK2 KCNJ5 PLN
CAV3 SCN4B TGFB3
KCNE1 SNTA1 TMEM43
TTN
CALM1*
CALM2 DSP Arrhythmogenic
CALM3 JUP Right Ventricular
TRDN LMNA Cardiomyopathy
DES (ARVC)
DSC2
Catecholaminergic DSG2
Polymorphic
Ventricular CASQ2 RYR2
Tachycardia
(CPVT)

*Del/Dup analysis not offered
^Gene level resolution; may not detect exon level events

3