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| Indikation |
|
| Material | |
| Klinische Fragestellung | Glykosylierungsstörung, congenital |
| Gene | A4GALT ALG1 ALG11 ALG12 ALG13 ALG14 ALG2 ALG3 ALG6 ALG8 ALG9 ARCN1 ATP6AP1 ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1E1 B3GALNT2 B3GALT6 B3GAT3 B3GLCT B4GALNT1 B4GALT1 B4GALT7 B4GAT1 C1GALT1C1 CAD CANT1 CCDC115 CHST14 CHST3 CHST6 CHSY1 COG1 COG2 COG4 COG5 COG6 COG7 COG8 COPA COPB2 CRPPA CSGALNACT1 DDOST DHDDS DOLK DPAGT1 DPM1 DPM2 DPM3 DSE EOGT EXT1 EXT2 EXTL3 FCSK FKRP FKTN FUT8 G6PC3 GALNT3 GANAB GFPT1 GMPPA GMPPB GNE GNPTAB GORAB GOSR2 GPAA1 JAGN1 LARGE1 LFNG MAGT1 MAN1B1 MGAT2 MOGS MPDU1 MPI NANS NGLY1 NUS1 OGT PAPSS2 PGAP1 PGAP2 PGAP3 PGM1 PGM3 PIGA PIGB PIGC PIGG PIGL PIGM PIGN PIGO PIGP PIGQ PIGT PIGU PIGV PIGW PIGY PMM2 POFUT1 POGLUT1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRKCSH RFT1 RPN2 RXYLT1 SAR1B SEC23A SEC23B SEC24D SEC63 SLC10A7 SLC26A2 SLC35A1 SLC35A2 SLC35A3 SLC35C1 SLC35D1 SLC37A4 SLC39A8 SLC9A7 SRD5A3 SSR3 SSR4 ST3GAL3 ST3GAL5 STT3A STT3B TGDS TMEM165 TMEM199 TRAK1 TRAPPC11 TRAPPC12 TRAPPC2 TRAPPC6B TRAPPC9 TRIP11 TUSC3 VMA21 VPS13B XYLT1 XYLT2 |
| Methode | Next Generation Sequencing, NGS |