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