List of diseases covered by
Hypertrophic Cardiomyopathy NGS panel

Gene Condition
ACTC1 Atrial septal defect 5; Cardiomyopathy, dilated, 1R;
Cardiomyopathy, hypertrophic, 11
ACTN2 Cardiomyopathy, dilated, 1AA, with or without LVNC
AGK Sengers syndrome; Cataract 38, autosomal recessive
CALR3 Cardiomyopathy, hypertrophic, 19
CAV3 Familial hypertrophic cardiomyopathy 1; Long QT syndrome 9
CRYAB Cardiomyopathy, dilated, 1II; Cataract 16, multiple types;
Myopathy, myofibrillar, 2;
Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related
CSRP3 Cardiomyopathy, dilated, 1M; Cardiomyopathy, hypertrophic, 12
FLNC Cardiomyopathy, familial restrictive 5; Myopathy, distal, 4;
Myopathy, myofibrillar, 5
GLA Fabry disease, cardiac variant
JPH2 Cardiomyopathy, hypertrophic, 17
LAMP2 Danon disease
LDB3 Cardiomyopathy, dilated, 1C, with or without LVNC;
Myopathy, myofibrillar, 4
MYBPC3 Cardiomyopathy, dilated, 1MM; Cardiomyopathy, hypertrophic, 4
MYH6 Atrial septal defect 3; Cardiomyopathy, dilated, 1EE;
Cardiomyopathy, hypertrophic, 14
MYH7 Cardiomyopathy, dilated, 1S; Cardiomyopathy, hypertrophic, 1;
Laing distal myopathy; Myopathy, myosin storage, autosomal dominant;
Myopathy, myosin storage, autosomal recessive;
Scapuloperoneal syndrome, myopathic type
MYL2 Cardiomyopathy, hypertrophic, 10
MYL3 Cardiomyopathy, hypertrophic, 8
MYLK2 Cardiomyopathy, hypertrophic, 1, digenic
MYOZ2 Cardiomyopathy, hypertrophic, 16
MYPN Cardiomyopathy, dilated, 1KK;
Nemaline myopathy 11, autosomal recessive
NEXN Cardiomyopathy, dilated, 1CC; Cardiomyopathy, hypertrophic, 20
PLN Dilated cardiomyopathy 1P; Familial hypertrophic cardiomyopathy 18
PRKAG2 Cardiomyopathy, hypertrophic 6;
Glycogen storage disease of heart, lethal congenital;
Wolff-Parkinson-White syndrome
RAF1 Cardiomyopathy, dilated, 1NN; LEOPARD syndrome 2; Noonan syndrome 5
SLC25A4 Mitochondrial DNA depletion syndrome 12A
(cardiomyopathic type) AD;
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR;
Progressive external ophthalmoplegia with mitochondrial DNA deletions,
autosomal dominant 2
SOS1 Noonan syndrome 4;
TCAP Cardiomyopathy, hypertrophic, 25;
Muscular dystrophy, limb-girdle, type 2G
TNNC1 Cardiomyopathy, dilated, 1Z; Cardiomyopathy, hypertrophic, 13
TNNI3 Cardiomyopathy, dilated, 2A; Cardiomyopathy, dilated, 1FF;
Cardiomyopathy, familial restrictive, 1; Cardiomyopathy, hypertrophic, 7
TNNT2 Cardiomyopathy, dilated, 1D; Cardiomyopathy, familial restrictive, 3;
Cardiomyopathy, hypertrophic, 2
TPM1 Cardiomyopathy, dilated, 1Y; Cardiomyopathy, hypertrophic, 3
TTN Cardiomyopathy, dilated, 1G; Cardiomyopathy, familial hypertrophic, 9;
Muscular dystrophy, limb-girdle, type 2J;
Myopathy, proximal, with early respiratory muscle involvement;
Salih myopathy; Tibial muscular dystrophy, tardive
TTR Amyloidosis, hereditary, transthyretin-related;
Carpal tunnel syndrome, familial
VCL Cardiomyopathy, dilated, 1W; Cardiomyopathy, hypertrophic, 15