Hereditäre Neuropathien, umfassende Diagnostik : 245 Gene (598,611 kb)

AAAS, AARS1, ABCA1, ABCD1, ABHD12, ACOX1, ADA2, ADCY6, ADGRG6, ADPRS, AGTPBP1, AGXT, AIFM1, AMACR, AP1S1, AP5Z1, APOA1, APTX, AR, ARHGEF10, ARL6IP1, ARSA, ASAH1, ASCC1, ATAD3A, ATL1, ATL3, ATM, ATP1A1, ATP7A, ATP13A2, ATXN1, ATXN2, ATXN3, ATXN7, ATXN10, B4GALNT1, BAG3, BCKDHB, BICD2, BSCL2, CADM3, CAPN1, CD59, CFAP276, CHCHD10, CLP1, CNTNAP1, COA7, COQ7, COX6A1, COX20, CPOX, CTDP1, CYP2U1, CYP27A1, DARS2, DCTN1, DHH, DHTKD1, DHX9, DMXL2, DNAJB2, DNAJC3, DNM2, DNMT1, DRP2, DST, DYNC1H1, EGR2, ELP1, EMILIN1, ERCC6, ERCC8, ETFDH, EXOSC3, FA2H, FAH, FBLN5, FBXO38, FDXR, FGD4, FICD, FIG4, FLVCR1, FMR1, FXN, GALC, GAN, GARS1, GBA2, GBF1, GDAP1, GJB1, GLA, GNB4, GSN, HADHA, HADHB, HARS1, HEXA, HEXB, HINT1, HK1, HMBS, HPDL, HSPB1, HSPB3, HSPB8, HYCC1, IARS2, IGHMBP2, INF2, ITPR3, JAG1, JPH1, KARS1, KIF1A, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, LYST, MAG, MARS1, MCM3AP, MED25, MFN2, MMACHC, MME, MORC2, MPV17, MPZ, MT-ATP6, MTMR2, MTRFR, MTTP, MYH14, NAGA, NAGLU, NARS1, NDC1, NDRG1, NDUFS6, NEFH, NEFL, NEMF, NFASC, NGF, NTRK1, NUDT2, OPA1, OPA3, PDHA1, PDK3, PDXK, PDYN, PEX7, PEX10, PHYH, PIEZO2, PIGB, PLA2G6, PLAAT3, PLEKHG5, PLP1, PMM2, PMP2, PMP22, PNKP, PNPLA6, PNPT1, POLG, POLR3A, POLR3B, PPOX, PRDM12, PRNP, PRPS1, PRX, PTRH2, RAB7A, REEP1, RETREG1, RTN2, SACS, SAMD9L, SARS1, SBF1, SBF2, SCARB2, SCN9A, SCN10A, SCN11A, SCO2, SEPTIN9, SETX, SH3TC2, SIGMAR1, SLC5A6, SLC5A7, SLC12A6, SLC25A19, SLC25A46, SLC52A2, SLC52A3, SMN1, SMN2, SORD, SOX10, SPAST, SPG7, SPG11, SPTAN1, SPTBN4, SPTLC1, SPTLC2, SURF1, SYT2, TBCE, TECPR2, TFG, TRIM2, TRIP4, TRMT5, TRPV4, TTPA, TTR, TUBB3, TWNK, TYMP, UBA1, UCHL1, VAPB, VCP, VPS13D, VRK1, VWA1, WARS1, WNK1, XK, XPA, YARS1, ZFYVE26