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 |
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 |
ENO3 | Glycogen storage disease XIII |
ETFA | Glutaric acidemia IIA |
ETFB | Glutaric acidemia IIB |
ETFDH | Glutaric acidemia IIC |
FLAD1 | Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency |
GAA | Glycogen storage disease II |
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 |
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 |
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 |
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 |
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 |
TAZ | Barth syndrome |
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) |