Genetic TestsGlycogen Storage Diseases Gene Panel

• Test Name: Glycogen Storage Diseases Gene Panel
• Test Code: 4693

• “Glycogen storage disease type III, Glycogen storage disease XII, Glycogen storage disease XIII, Lafora progressive myoclonus epilepsy, Glycogen storage disease type Ia, mitochondrial, Pompe disease-glycogen storage disease type II, Glycogen storage disease type IV-adult polyglucosan body disease, Glycogen storage disease type XV, Glycogen storage disease type 0-muscle, Glycogen synthase 2 (glycogen storage disease 0, liver), Glycogen storage disease type IIb-Danon disease, Glycogen storage disease type XI- lactate dehydrogenase deficiency, Lafora progressive myoclonus epilepsy, Glycogen storage disease type VII, Glycogen storage disease type X-phosphoglycerate mutase deficiency, Phosphoglycerate kinase deficiency, Phosphoglucomutase 1 (glycogen storage disease XIV), Phosphorylase kinase, alpha 1 (muscle) (Glycogen storage disease, type IXD), Glycogen storage disease type IXA, Glycogen storage disease, IXb, Glycogen storage disease type IXC, Glycogen storage disease of the heart -Wolff-Parkinson-White syndrome, Glycogen storage disease type VI, Glycogen storage disease type V, McArdle disease, Glycogen storage disease type 11, GLUT-2 deficiency, Fanconi Bickel syndrome, Glycogen storage disease type Ib and Ic” (OMIM #: 261740 240600 611556 232200 232220 232240 232300 300257 232400 232500 232600 232700 232800 306000 261750 613027 300559 261670 227810 612933 611881 612932 614921 613507 263570 300653 254780 254780 194200) || Gene: “GYS2, GYS1, G6PC, SLC37A4, GAA, LAMP2, AGL ,GBE1, PYGM, PYGL, PFKM, PHKA2, PHKB, PHKG2, PHKA1, PGAM2, SLC2A2, LDHA, ALDOA, ENO3, PGM1, GYG1, PGK1, EPM2A, NHLRC1, PRKAG2”

• Methodology: Next Generation DNA Sequencing
• Performed: Everyday
• Reported: 6 weeks

• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 3 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia

• Inborn Errors of Metabolism