CDG-Syndrome (Panel-Diagnostik)

Angeborene Glykosylierungsstörungen – CDG-Syndrome
Gen-Panel (107 Gene)
ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6AP1, ATP6V0A2, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALT1, B4GALT7, C1GALT1C1, CAD, CCDC115, CHST14, CHST3, CHST6, CHSY1, COG1, COG2, COG4, COG5, COG6, COG7, COG8, DDOST, DHDDS, DOLK, DPAGT1, DPM1, DPM2, DPM3, EXT1, EXT2, FKRP, FKTN, FUT8, GALNT12, GALNT3, GFPT1, GLS, GMPPA, GMPPB, GNE, GORAB, ISPD, LARGE, LFNG, MAGT1, MAN1B1, MGAT2, MOGS, MPDU1, MPI, NGLY1, NUS1, PGAP2, PGAP3, PGM1, PGM3, PIGA, PIGL, PIGM, PIGN, PIGO, PIGT, PIGV, PIGW, PMM2, POMGNT1, POMGNT2, POMT1, POMT2, RFT1, SEC23B, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC39A8, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STT3A, STT3B, TMEM165, TMEM199, TMEM5, TRAPPC11, TUSC3, XYLT1, XYLT2