List of diseases covered by
Congenital Myopathy and Distal Myopathy NGS panel
| Gene | Condition |
| ACTA1 | Congenital myopathy with fiber type disproportion; Myopathy, scapulohumeroperoneal; Nemaline myopathy 3 |
| ANO5 | Limb-girdle muscular dystrophy, type 2L; Miyoshi muscular dystrophy 3; Gnathodiaphyseal dysplasia |
| BAG3 | Dilated cardiomyopathy 1HH; Myofibrillar myopathy, BAG3-related |
| BIN1 | Autosomal recessive centronuclear myopathy |
| CAV3 | Distal myopathy, Tateyama type; Limb-girdle muscular dystrophy, type 1C; Rippling muscle disease; Familial hypertrophic cardiomyopathy 1 |
| CCDC78 | Myopathy, centronuclear, 4 |
| CFL2 | Nemaline myopathy 7 |
| CNTN1 | Myopathy, congenital, compton-north |
| COL6A1 | Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 |
| COL6A3 | Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1; Dystonia 27 |
| COL12A1 | Bethlem myopathy 2; Ullrich congenital muscular dystrophy 2 |
| CRYAB | Alpha-B crystallinopathy; Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related; Dilated cardiomyopathy 1II |
| DES | Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2r; Dilated cardiomyopathy 1I; Scapuloperoneal syndrome, neurogenic, Kaeser type |
| DNAJB6 | Limb-girdle muscular dystrophy, type 1E |
| DNM2 | Myopathy, centronuclear, 1; DNM2-related intermediate Charcot-Marie-Tooth neuropathy; Lethal congenital contracture syndrome 5 |
| DYSF | Myopathy, distal, with anterior tibial onset; Miyoshi muscular dystrophy 1; Limb-girdle muscular dystrophy, type 2B |
| FHL1 | Myopathy, reducing body, X-linked, early-onset, severe; Myopathy, reducing body, X-linked, childhood-onset; Scapuloperoneal myopathy, X-linked dominant; Myopathy with postural muscle atrophy, X-linked |
| FLNC | Myopathy, distal, 4; Myofibrillar myopathy, filamin C-related; Cardiomyopathy, familial hypertrophic, 26 |
| GNE | Nonaka myopathy |
| KLHL40 | Nemaline myopathy 8 |
| KLHL41 | Nemaline myopathy 9 |
| LDB3 | Myofibrillar myopathy, ZASP-related; Primary dilated cardiomyopathy |
| LMOD3 | Nemaline myopathy 10 |
| MATR3 | Amyotrophic lateral sclerosis 21 |
| MEGF10 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset |
| MICU1 | Myopathy with extrapyramidal signs |
| MTM1 | Severe X-linked myotubular myopathy |
| MTMR14 | Myopathy, centronuclear, 1 |
| MYF6 | Myopathy, centronuclear, 3 |
| MYH7 | Myosin storage myopathy; Myopathy, myosin storage, autosomal recessive; Scapuloperoneal myopathy, MYH7-related; Myopathy, distal, 1; Dilated cardiomyopathy 1S; Familial hypertrophic cardiomyopathy 1 |
| MYOT | Spheroid body myopathy; Myotilinopathy; Limb-girdle muscular dystrophy, type 1A |
| NEB | Nemaline myopathy 2 |
| RYR1 | Minicore myopathy with external ophthalmoplegia; Central core disease; Malignant hyperthermia, susceptibility to, 1 |
| SELENON | Congenital myopathy with fiber type disproportion; Eichsfeld type congenital muscular dystrophy |
| STAC3 | Native American myopathy |
| SQSTM1 | Distal myopathy with rimmed vacuoles; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset |
| TIA1 | Welander distal myopathy |
| TNNT1 | Nemaline myopathy 5 |
| TPM2 | Nemaline myopathy 4; Arthrogryposis multiplex congenita distal type 1; Distal arthrogryposis type 2B |
| TPM3 | Nemaline myopathy 1; Congenital myopathy with fiber type disproportion |
| TTN | Hereditary myopathy with early respiratory failure; Myopathy, early-onset, with fatal cardiomyopathy; Distal myopathy Markesbery-Griggs type; Limb-girdle muscular dystrophy, type 2J; Familial hypertrophic cardiomyopathy 9; Dilated cardiomyopathy 1G |
| VCP | Inclusion body myopathy with early-onset paget disease and frontotemporal dementia; Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia; Charcot-Marie-Tooth disease, axonal, type 2y |