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 |
| BVES | Muscular dystrophy, limb-girdle, autosomal recessive 25 |
| 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 |
| CRPPA | Muscular dystrophy-dystroglycanopathy, type A, 7; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 |
| 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 |
| DMD | Becker muscular dystrophy; Cardiomyopathy, dilated, 3B; Duchenne muscular dystrophy |
| DNAJB6 | Muscular dystrophy, limb-girdle, type 1E |
| DOK7 | Fetal akinesia deformation sequence 3; Myasthenic syndrome, congenital, 10 |
| DYSF | Muscular dystrophy, limb-girdle, type 2B; Miyoshi muscular dystrophy 1; Myopathy, distal, with anterior tibial onset |
| FKRP | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 |
| FKTN | Muscular dystrophy-dystroglycanopathy, type A, 4; Muscular dystrophy-dystroglycanopathy, type B, 4; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4; Cardiomyopathy, dilated, 1X |
| GAA | Glycogen storage disease II |
| 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 |
| LAMA2 | Muscular dystrophy, congenital, merosin deficient or partially deficient; Muscular dystrophy, limb-girdle, autosomal recessive 23 |
| LIMS2 | Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue |
| 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 |
| PNPLA2 | Neutral lipid storage disease with myopathy |
| POMGNT1 | Muscular dystrophy-dystroglycanopathy, type A, 3; Muscular dystrophy-dystroglycanopathy, type B, 3; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 |
| POMGNT2 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 |
| 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 |
| SELENON | Muscular dystrophy, rigid spine, 1; Myopathy, congenital, with fiber-type disproportion |
| 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 |
| SMCHD1 | Fascioscapulohumeral muscular dystrophy 2, digenic; Bosma arhinia microphthalmia syndrome |
| SYNE1 | Arthrogryposis multiplex congenita 3, myogenic type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant; Spinocerebellar ataxia, autosomal recessive 8 |
| TCAP | Muscular dystrophy, limb-girdle, type 2G; Cardiomyopathy, hypertrophic, 25 |
| TNPO3 | Muscular dystrophy, limb-girdle, type 1F |
| TOR1AIP1 | Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures |
| 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 |