| Panel naam | NGS Neuropathy/Charcot Marie Tooth |
|---|---|
| Panel methode | Targeted NGS |
| Panel versie ** | NEUROv9 |
| Panel kwaliteit *** | A/C |
| Core-NL | Geen core-NL genen inbegrepen |
| CNV analyse | Nee |
| Notitie | If desired, select Del/Dup PMP22 separately |
| Locatie | Locatie AMC |
| Genen (120) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
|---|---|---|---|---|---|
| AARS1 | C | 100.00 | 100.00 | ||
| ABHD12 | C | 99.98 | 100.00 | ||
| AIFM1 | C | 100.00 | 100.00 | ||
| ARHGEF10 | C | 100.00 | 100.00 | ||
| ARSA | C | 100.00 | 100.00 | ||
| ATL1 | C | 100.00 | 100.00 | ||
| ATL3 | C | 99.87 | 99.95 | ||
| ATM | C | 100.00 | 100.00 | ||
| ATP1A1 | C | 100.00 | 100.00 | ||
| ATP7A | C | 100.00 | 100.00 | ||
| BAG3 | C | ||||
| BICD2 | C | 100.00 | 100.00 | ||
| BSCL2 | C | 100.00 | 100.00 | ||
| CCT5 | C | 100.00 | 100.00 | ||
| COX6A1 | C | 100.00 | 100.00 | ||
| CTDP1 | A | 100.00 | 100.00 | ||
| DCAF8 | C | 100.00 | 100.00 | ||
| DCTN1 | C | 100.00 | 100.00 | ||
| DGAT2 | C | 100.00 | 100.00 | ||
| DHTKD1 | C | 100.00 | 100.00 | ||
| DNAJB2 | C | 100.00 | 100.00 | ||
| DNAJC3 | C | 100.00 | 100.00 | ||
| DNM2 | C | 100.00 | 100.00 | ||
| DNMT1 | C | 100.00 | 100.00 | ||
| DST | C | 100.00 | 100.00 | ||
| DYNC1H1 | C | 100.00 | 100.00 | ||
| EGR2 | A | 100.00 | 100.00 | ||
| ELP1 | C | 100.00 | 100.00 | ||
| FBLN5 | C | 100.00 | 100.00 | ||
| FBXO38 | C | 100.00 | 100.00 | ||
| FGD4 | A | 100.00 | 100.00 | ||
| FIG4 | C | 100.00 | 100.00 | ||
| FLVCR1 | C | 100.00 | 100.00 | ||
| GALC | C | 100.00 | 100.00 | ||
| GAN | A | 100.00 | 100.00 | ||
| GARS1 | C | 100.00 | 100.00 | ||
| GDAP1 | A | 100.00 | 100.00 | ||
| GJB1 | A | 100.00 | 100.00 | ||
| GJB3 | A | 100.00 | 100.00 | ||
| GNB4 | C | 100.00 | 100.00 | ||
| HARS1 | C | 100.00 | 100.00 | ||
| HINT1 | A | 100.00 | 100.00 | ||
| HK1 | C | 99.82 | 99.99 | ||
| HOXD10 | C | 100.00 | 100.00 | ||
| HSPB1 | A | 100.00 | 100.00 | ||
| HSPB3 | C | 100.00 | 100.00 | ||
| HSPB8 | A | 100.00 | 100.00 | ||
| IGHMBP2 | A | 100.00 | 100.00 | ||
| INF2 | C | 100.00 | 100.00 | ||
| KARS1 | C | 100.00 | 100.00 | ||
| KIF1A | C | 100.00 | 100.00 | ||
| KIF1B | C | 100.00 | 100.00 | ||
| KIF5A | C | 100.00 | 100.00 | ||
| LAS1L | C | 100.00 | 100.00 | ||
| LITAF | A | 100.00 | 100.00 | ||
| LMNA | A | 100.00 | 100.00 | ||
| LRSAM1 | A | 100.00 | 100.00 | ||
| MARS1 | C | 100.00 | 100.00 | ||
| MCM3AP | C | 100.00 | 100.00 | ||
| MED25 | C | 100.00 | 100.00 | ||
| MFN2 | A | 100.00 | 100.00 | ||
| MME | C | 100.00 | 100.00 | ||
| MORC2 | C | 100.00 | 100.00 | ||
| MPV17 | C | ||||
| MPZ | A | 100.00 | 100.00 | ||
| MTMR2 | A | 100.00 | 100.00 | ||
| MYH14 | C | 100.00 | 100.00 | ||
| NAGLU | C | 99.27 | 99.46 | ||
| NDRG1 | C | 100.00 | 100.00 | ||
| NEFH | C | 100.00 | 100.00 | ||
| NEFL | A | 100.00 | 100.00 | ||
| NGF | A | 100.00 | 100.00 | ||
| NTRK1 | C | 100.00 | 100.00 | ||
| PDK3 | A | 100.00 | 100.00 | ||
| PEX1 | C | 100.00 | 100.00 | ||
| PEX16 | C | 100.00 | 100.00 | ||
| PEX7 | C | 100.00 | 100.00 | ||
| PHYH | C | 100.00 | 100.00 | ||
| PLA2G6 | C | 100.00 | 100.00 | ||
| PLEKHG5 | C | 100.00 | 100.00 | ||
| PMP2 | C | 100.00 | 100.00 | ||
| PMP22 | A | 100.00 | 100.00 | ||
| PRDM12 | C | 100.00 | 100.00 | ||
| PRPS1 | C | 100.00 | 100.00 | ||
| PRX | C | 100.00 | 100.00 | ||
| RAB7A | A | 100.00 | 100.00 | ||
| REEP1 | C | 100.00 | 100.00 | ||
| RETREG1 | C | 100.00 | 100.00 | ||
| SBF1 | C | 99.99 | 99.99 | ||
| SBF2 | C | 100.00 | 100.00 | ||
| SCN10A | C | 100.00 | 100.00 | ||
| SCN11A | C | 100.00 | 100.00 | ||
| SCN9A | C | 99.98 | 99.99 | ||
| SEPTIN9 | C | 100.00 | 100.00 | ||
| SETX | C | 100.00 | 100.00 | ||
| SH3TC2 | A | 100.00 | 100.00 | ||
| SIGMAR1 | C | 100.00 | 100.00 | ||
| SLC12A6 | C | 100.00 | 100.00 | ||
| SLC25A46 | C | 100.00 | 100.00 | ||
| SLC52A2 | C | 100.00 | 100.00 | ||
| SLC52A3 | C | 99.84 | 99.85 | ||
| SLC5A7 | C | 100.00 | 100.00 | ||
| SOX10 | C | 100.00 | 100.00 | ||
| SPG11 | C | 100.00 | 100.00 | ||
| SPTLC1 | A | 100.00 | 100.00 | ||
| SPTLC2 | C | 100.00 | 100.00 | ||
| SURF1 | C | 100.00 | 100.00 | ||
| TBCE | C | 100.00 | 100.00 | ||
| TDP1 | C | 100.00 | 100.00 | ||
| TFG | C | 100.00 | 100.00 | ||
| TRIM2 | C | 100.00 | 100.00 | ||
| TRPV4 | A | 100.00 | 100.00 | ||
| TTR | C | 100.00 | 100.00 | ||
| TUBB3 | C | 100.00 | 100.00 | ||
| VCP | C | ||||
| VRK1 | C | 100.00 | 100.00 | ||
| VWA1 | C | 100.00 | 100.00 | ||
| WARS1 | C | 100.00 | 100.00 | ||
| WNK1 | A | 100.00 | 100.00 | ||
| YARS1 | C | 100.00 | 100.00 |
| Indicatie(s) |
|---|
| Charcot-Marie-Tooth, ziekte van CMT/HMSN |
| Charcot-Marie-Tooth, ziekte van type 1 |
| Charcot-Marie-Tooth, ziekte van type 2 |
| Charcot-Marie-Tooth, ziekte van type 4 |
| Charcot-Marie-Tooth, ziekte van type X |
| Distale hereditaire motorische neuropathie DHMN/DSMA |
| Hereditaire sensorische en autonome neuropathie HSAN |
** Voor informatie over eerdere versies van dit panel neem contact op met het laboratorium Genoomdiagnostiek
*** NGS panel genen kunnen met verschillende kwaliteit worden geanalyseerd. Meer informatie over testkwaliteit type A, C or A/C