List of diseases covered by
Congenital Muscular Dystrophy NGS panel
| Gene | Condition |
| B3GALNT2 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 |
| B4GAT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 |
| CHKB | Muscular dystrophy, congenital, megaconial type |
| COL12A1 | Bethlem myopathy 2; Ullrich congenital muscular dystrophy 2 |
| COL6A1 | Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 |
| COL6A2 | Bethlem myopathy 1; Myosclerosis, congenital; Ullrich congenital muscular dystrophy 1 |
| COL6A3 | Bethlem myopathy 1; Dystonia 27; Ullrich congenital muscular dystrophy 1 |
| CRPPA | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |
| DAG1 | Muscular dystrophy-dystroglycanopathy, type A, 9; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 |
| DMD | Becker muscular dystrophy; Cardiomyopathy, dilated, 3B; Duchenne muscular dystrophy |
| DPM1 | Congenital disorder of glycosylation, type Ie |
| DPM2 | Congenital disorder of glycosylation, type Iu |
| DPM3 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 |
| EMD | mery-Dreifuss muscular dystrophy 1, X-linked |
| 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 |
| GMPPB | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 |
| ITGA7 | Muscular dystrophy, congenital, due to ITGA7 deficiency |
| LAMA2 | Muscular dystrophy, congenital, merosin deficient or partially deficient; Muscular dystrophy, limb-girdle, autosomal recessive 23 |
| LARGE1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 |
| 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 |
| 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 |
| RXYLT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 |
| SELENON | Muscular dystrophy, rigid spine, 1; Myopathy, congenital, with fiber-type disproportion |
| TCAP | Muscular dystrophy, limb-girdle, type 2G; Cardiomyopathy, hypertrophic, 25 |