List of diseases covered by
Glycogen Storage Disease NGS panel
| Gene | Condition |
| AGL | Glycogen storage disease IIIa |
| ALDOA | Glycogen storage disease XII |
| ENO3 | Glycogen storage disease XIII |
| FBP1 | Fructose-1,6-bisphosphatase deficiency |
| G6PC | Glycogen storage disease Ia |
| GAA | Glycogen storage disease II |
| GBE1 | Glycogen storage disease IV; Polyglucosan body disease, adult form |
| GYG1 | Polyglucosan body myopathy 2; Glycogen storage disease XV |
| GYS1 | Glycogen storage disease 0, muscle |
| GYS2 | Glycogen storage disease 0, liver |
| LAMP2 | Danon disease |
| LDHA | Glycogen storage disease XI |
| 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 |
| PHKA2 | Glycogen storage disease, type IXa1 |
| PHKB | Phosphorylase kinase deficiency of liver and muscle, autosomal recessive |
| PHKG2 | Glycogen storage disease IXc |
| PRKAG2 | Glycogen storage disease of heart, lethal congenital; Cardiomyopathy, hypertrophic 6; Wolff-Parkinson-White syndrome |
| PYGL | Glycogen storage disease VI |
| PYGM | McArdle disease |
| SLC2A2 | Fanconi-Bickel syndrome; Diabetes mellitus, noninsulin-dependent |
| SLC37A4 | Glycogen storage disease Ib; Glycogen storage disease Ic |