List of diseases covered by
Limb-Girdle Muscular Dystrophy NGS panel

Gene Condition
ANO5 Muscular dystrophy, limb-girdle, type 2L;
Miyoshi muscular dystrophy 3; Gnathodiaphyseal dysplasia
CAPN3 Muscular dystrophy, limb-girdle, type 2A
CAV3 Muscular dystrophy, limb-girdle, type IC;
Cardiomyopathy, familial hypertrophic;
Creatine phosphokinase, elevated serum;
Long QT syndrome 9; Myopathy, distal, Tateyama type;
Rippling muscle disease
DAG1 Muscular dystrophy-dystroglycanopathy, type A, 9;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9
DES Muscular dystrophy, limb-girdle, type 2R;
Cardiomyopathy, dilated, 1I; Myopathy, myofibrillar, 1;
Scapuloperoneal syndrome, neurogenic, Kaeser type
DNAJB6 Muscular dystrophy, limb-girdle, type 1E
DYSF Muscular dystrophy, limb-girdle, type 2B;
Miyoshi muscular dystrophy 1; Myopathy, distal, with anterior tibial onset
FKTN Muscular dystrophy-dystroglycanopathy, type A, 4;
Muscular dystrophy-dystroglycanopathy, type B, 4;
Muscular dystrophy-dystroglycanopathy
(limb-girdle), type C, 4; Cardiomyopathy, dilated, 1X
GMPPB Muscular dystrophy-dystroglycanopathy, type A, 14;
Muscular dystrophy-dystroglycanopathy, type B, 14;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14
HNRNPDL Muscular dystrophy, limb-girdle, type 1G
ISPD Muscular dystrophy-dystroglycanopathy, type A, 7;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
LMNA Muscular dystrophy, limb-girdle, type 1B;
Charcot-Marie-Tooth disease, type 2B1;
Cardiomyopathy, dilated, 1A;
Emery-Dreifuss muscular dystrophy 2, AD;
Emery-Dreifuss muscular dystrophy 3, AR;
Muscular dystrophy, congenital
MYOT Muscular dystrophy, limb-girdle, type 1A; Myopathy, myofibrillar, 3;
Myopathy, spheroid body
PLEC Muscular dystrophy, limb-girdle, type 2Q;
Epidermolysis bullosa simplex with nail dystrophy;
Epidermolysis bullosa simplex with muscular dystrophy;
Epidermolysis bullosa simplex with pyloric atresia;
Epidermolysis bullosa simplex, Ogna type
POMGNT1 Muscular dystrophy-dystroglycanopathy, type A, 3;
Muscular dystrophy-dystroglycanopathy, type B, 3;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3
POMK Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12;
Muscular dystrophy-dystroglycanopathy, type A, 12
POMT1 Muscular dystrophy-dystroglycanopathy, type A, 1;
Muscular dystrophy-dystroglycanopathy, type B, 1;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
POMT2 Muscular dystrophy-dystroglycanopathy, type A, 2;
Muscular dystrophy-dystroglycanopathy, type B, 2;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2
SGCA Muscular dystrophy, limb-girdle, type 2D
SGCB Muscular dystrophy, limb-girdle, type 2E
SGCD Muscular dystrophy, limb-girdle, type 2F; Cardiomyopathy, dilated, 1L
SGCG Muscular dystrophy, limb-girdle, type 2C
TCAP Muscular dystrophy, limb-girdle, type 2G; Cardiomyopathy, hypertrophic, 25
TNPO3 Muscular dystrophy, limb-girdle, type 1F
TRAPPC11 Muscular dystrophy, limb-girdle, type 2S
TRIM32 Muscular dystrophy, limb-girdle, type 2H; Bardet-Biedl syndrome 11
TTN Muscular dystrophy, limb-girdle, type 2J;
Myopathy, proximal, with early respiratory muscle involvement;
Salih myopathy; Tibial muscular dystrophy, tardive;
Cardiomyopathy, dilated, 1G; Cardiomyopathy, familial hypertrophic, 9