List of diseases covered by Myotonia Congenita NGS panel
| Gene | Condition |
| CLCN1 | Myotonia congenita, dominant; Myotonia congenita, recessive; Myotonia levior |
| SCN4A | Congenital myopathy 22A, classic;Congenital myopathy 22B, severe fetal; Hyperkalemic periodic paralysis; Hypokalemic periodic paralysis, type 2; Myasthenic syndrome, congenital, 16; Myotonia congenita, atypical, acetazolamide-responsive; Paramyotonia congenita |
| HINT1 | Neuromyotonia and axonal neuropathy, autosomal recessive |