Painel Glicogenose (15 genes) - NGS
Gene: PHKB, SLC37A4, GAA, AGL, GBE1, PYGM, PHKA1, PHKG2, PHKA2, PGAM2, G6PC, PFKM, LDHA, ENO3, PGM1 Jejum não necessário examesPainel Glicogenose tipo 3 (AGL) - screening Gene: AGL Mutações: SCREENING (p.Gln6Term (c. 16 C>T), c.17delAG (p.Gln6fsX25), p.Arg864Term (c.2590 C>T), p.Arg1228Term (c.3682 C>T), c.3965delT (p.Val1322fsX1348), IVS32-12 A>G)
