Page 6 - 40163_Cardiology Overview Brochure modi 181217 copy

Cardiomyopathy Testing

(hypertrophied) or rigid. Many inherited forms of cardiomyopathy are caused by pathogenic variants in genes that code for
proteins in the sarcomeres themselves, or for proteins that play important roles in the contraction of cardiac tissue through an
association with sarcomeres.

Personal and Family History Red Flags

Cardiomyopathy or enlarged heart Unexplained cardiac arrest(s) or sudden death
ICD/Pacemaker placement at <50 years of age Unexplained syncope and/or syncope with emotional distress
or exercise
Heart failure and/or transplant
Unexplained accidents such as drowning of an experienced
Exercise intolerence
swimmer or single car accidents
Cardiomyopathy Panels at GeneDx

Cardiomyopathy
ALPK3 MURC NKX2.5
FKRP MYLK2 PDLIM3
HCN4 MYOZ2

Hypertrophic Arrhythmogenic Right
Cardiomyopathy Ventricular Cardiomyopathy
(HCM) (ARVC)
CAV3 MTTG* JUP TGFB3
FHL1 MYL2 PKP2 TMEM43
GLA MYL3 RYR2
JPH2 PRKAG2

ACTC1 MYH7 PLN DES
ACTN2 TCAP DSC2
CSRP3 TNNC1 DSG2
LAMP2 TNNI3 DSP
MTTI* TNNT2 LMNA
MTTK* TPM1 SCN5A
MTTQ* TTR TTN
MYBPC3 VCL

ABCC9 DOLK MIB1 MTTM* PRDM16
ALMS1 DTNA MTND1* MTTS1* RBM20
ANKRD1 EMD ^ MTND5* MTTS2* SGCD
BAG3 FKTN MTND6* MYH6 TAZ ^ Dilated
CHRM2 GATAD1 MTTD* MYPN TMPO Cardiomyopathy
CRYAB ILK MTTH* NEBL TXNRD2
DMD LAMA4 MTTL1* NEXN (DCM)
LDB3 MTTL2*

RAF1
BRAF MAP2K2
HRAS* NRAS
KRAS PTPN11
MAP2K1 RIT1
SOS1 Noonan Syndrome
A2ML1* KAT6B* & RASopathies
ACTB* LZTR1*
ACTG1* SHOC2*
CBL* SOS2*
*Del/Dup analysis not offered SPRED1*
^Gene level resolution; may not detect exon level events

6