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)