List of diseases covered by
Metabolic Myopathy and Rhabdomyolysis NGS panel
| Gene | Condition |
| ABHD5 | Chanarin-Dorfman syndrome |
| ACAD9 | Mitochondrial complex I deficiency due to ACAD9 deficiency |
| ACADM | Acyl-CoA dehydrogenase, medium chain, deficiency of |
| ACADVL | VLCAD deficiency |
| AGL | Glycogen storage disease IIIa |
| ALDOA | Glycogen storage disease XII |
| AMPD1 | Myopathy due to myoadenylate deaminase deficiency |
| ANO5 | Gnathodiaphyseal dysplasia; Miyoshi muscular dystrophy 3; Muscular dystrophy, limb-girdle, autosomal recessive 12 |
| 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 |
| CPT2 | CPT II deficiency, infantile; CPT II deficiency, lethal neonatal; CPT II deficiency, myopathic, stress-induced |
| DGUOK | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type); Portal hypertension, noncirrhotic, 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 |
| DMD | Becker muscular dystrophy; Cardiomyopathy, dilated, 3B; Duchenne muscular dystrophy |
| DYSF | Miyoshi muscular dystrophy 1; Muscular dystrophy, limb-girdle, autosomal recessive 2; Myopathy, distal, with anterior tibial onset |
| EPM2A | Myoclonic epilepsy of Lafora 1 |
| ENO3 | Glycogen storage disease XIII |
| ETFA | Glutaric acidemia IIA |
| ETFB | Glutaric acidemia IIB |
| ETFDH | Glutaric acidemia IIC |
| FDX1L (FDX2) | Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy |
| FLAD1 | Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency |
| FKRP | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5; Muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 |
| GAA | Glycogen storage disease II |
| GBA1 | {Lewy body dementia, susceptibility to} {Parkinson disease, late-onset, susceptibility to} Gaucher disease, perinatal lethal; Gaucher disease, type I; Gaucher disease, type II; Gaucher disease, type III; Gaucher disease, type IIIC |
| GBE1 | Glycogen storage disease IV; Polyglucosan body disease, adult form |
| GYG1 | Glycogen storage disease XV; Polyglucosan body myopathy 2 |
| GYS1 | Glycogen storage disease 0, muscle |
| HADHA | LCHAD deficiency; Trifunctional protein deficiency |
| HADHB | Trifunctional protein deficiency |
| ISCU | Myopathy with lactic acidosis, hereditary |
| LDHA | Glycogen storage disease XI |
| LPIN1 | Myoglobinuria, acute recurrent, autosomal recessive |
| NHLRC1 | Myoclonic epilepsy of Lafora 2 |
| OPA1 | Mitochondrial DNA depletion syndrome 14; Behr syndrome; Optic atrophy 1; Optic atrophy plus syndrome |
| OPA3 | 3-methylglutaconic aciduria, type III; Optic atrophy 3 with cataract |
| PHKB | Phosphorylase kinase deficiency of liver and muscle, autosomal recessive |
| PFKM | Glycogen storage disease VII |
| PGAM2 | Glycogen storage disease X |
| PGK1 | Phosphoglycerate kinase 1 deficiency |
| PGM1 | Congenital disorder of glycosylation, type It |
| PHKA1 | Muscle glycogenosis |
| PNPLA2 | Neutral lipid storage disease with myopathy |
| PRKAG2 | Cardiomyopathy, hypertrophic 6; Glycogen storage disease of heart, lethal congenital; Wolff-Parkinson-White syndrome |
| RBCK1 | Polyglucosan body myopathy 1 with or without immunodeficiency |
| POLG | Mitochondrial DNA depletion syndrome 4A; Mitochondrial DNA depletion syndrome 4B; Mitochondrial recessive ataxia syndrome; Progressive external ophthalmoplegia, autosomal dominant 1; Progressive external ophthalmoplegia, autosomal recessive 1 |
| POLG2 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 |
| PYGM | McArdle disease |
| RRM2B | Mitochondrial DNA depletion syndrome 8A; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 |
| RYR1 | Minicore myopathy with external ophthalmoplegia; Central core disease; Malignant hyperthermia, susceptibility to, 1 |
| SCN4A | Hyperkalemic periodic paralysis, type 2; Hypokalemic periodic paralysis, type 2; Myasthenic syndrome, congenital, 16; Myotonia congenita, atypical, acetazolamide-responsive; Paramyotonia congenita |
| SIL1 | Marinesco-Sjogren syndrome |
| SLC22A5 | Carnitine deficiency, systemic primary |
| SLC25A20 | Carnitine-acylcarnitine translocase deficiency |
| SUCLA2 | Mitochondrial DNA depletion syndrome 5 |
| SLC52A1 | Riboflavin deficiency |
| SLC52A2 | Brown-Vialetto-Van Laere syndrome 2 |
| SLC52A3 | Brown-Vialetto-Van Laere syndrome 1 |
| TANGO2 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration |
| TAZ | Barth syndrome |
| TSEN54 | Pontocerebellar hypoplasia type 5; Pontocerebellar hypoplasia type 2A; Pontocerebellar hypoplasia type 4 |
| TK2 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3; |
| TWNK | Perrault syndrome 5; Mitochondrial DNA depletion syndrome 7; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 |
| TYMP | Mitochondrial DNA depletion syndrome 1 (MNGIE type) |