Multigen-Diagnostik

Panel-Nummer: ID312.02

Gene (87)

Diagnostik

Gen-Panel ID312.02

Charcot-Marie-Tooth-Neuropathie (CMT, HMSN), umfassende Diagnostik: 87 Gene (217,3 kb)

AARS1, AIFM1, ARHGEF10, ATP1A1, ATP7A*^,**, BSCL2*, CADM3, CNTNAP1, COQ7, COX6A1, DCTN1, DHTKD1, DNAJB2, DNM2*, DYNC1H1, EGR2*, EMILIN1, FBLN5, FBXO38, FGD4, FIG4, GAN, GARS1*, GBF1, GDAP1*, GJB1*^,**, GNB4, HARS1, HINT1, HK1, HSPB1, HSPB3, HSPB8, IGHMBP2*^,**, INF2*, ITPR3, JAG1*^,**, JPH1, KARS1, KIF1B, LITAF*, LMNA*^,**, LRSAM1, MARS1, MED25, MFN2*^,**, MME, MORC2, MPV17, MPZ*^,**, MTMR2, NAGLU, NDRG1, NEFH, NEFL*, PDK3, PDXK, PLEKHG5, PMP2, PMP22*^,**, PNKP*, POLR3B, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SETX, SH3TC2*, SIGMAR1, SLC12A6, SLC25A46, SLC5A7, SORD, SPG11, SPTAN1*, SPTLC1, SURF1*, SYT2, TRIM2, TRPV4*, VCP, VRK1, VWA1, WARS1, YARS1*

Charcot-Marie-Tooth-Neuropathie, demyelinisierend (CMT1, CMT4, HMSN1): 20 Gene (50,3 kb)

EGR2*, FGD4, FBLN5, FIG4, GDAP1*, HK1, ITPR3, LITAF*, MPZ*^,**, MTMR2, NDRG1, NEFL*, PMP2, PMP22*^,**, POLR3B, PRX, SBF1, SBF2, SH3TC2*, SURF1*

Charcot-Marie-Tooth-Neuropathie, axonal (CMT2, HMSN2): 35 Gene (97,3 kb)

AARS1, ATP1A1, CADM3, DHTKD1, DNM2*, DYNC1H1, GARS1, GBF1, GDAP1*, HARS1, HSPB1, HSPB8, IGHMBP2*^,**, JAG1*^,**, JPH1, KIF1B, LMNA^*,**, LRSAM1, MARS1, MED25, MFN2*^,**, MME, MORC2, MPV17, MPZ*^,**, NAGLU, NEFH, NEFL*, PNKP*, RAB7A, SLC12A6, SPG11, TRIM2, TRPV4*, VCP    

Charcot-Marie-Tooth-Neuropathie, intermediär (CMTDI, CMTRI): 11 Gene (18,5 kb)

COX6A1, DNM2*, GDAP1*, GJB1*^,**, GNB4, INF2*, KARS1, MPZ*^,**, NEFL*, PLEKHG5, YARS1*  

Charcot-Marie-Tooth-Neuropathie, X-chromosomal (CMTX, HMSN): 4 Gene (4,9 kb)

AIFM1, GJB1*^,**, PDK3, PRPS1

Hypertrophe Déjerine-Sottas-Neuropathie (CMT3, DSS): 4 Gene (7,1 kb)

EGR2*, MPZ*^,**, PMP22*^,**, PRX

Periphere Neuropathie mit Optikusatrophie (HMSN6): 3 Gene (4,5 kb)

MFN2*^,**, PDXK, SLC25A46

Kongenitale hypomyelinisierende Neuropathie (CHN): 3 Gene (6,3 kb)

EGR2*, MPZ*^,**, CNTNAP1

Distale motorische Neuropathie (HMND, HMNR): 24 Gene (54,7 kb)

ATP7A*^,**, BSCL2*, COQ7, DCTN1, DNAJB2, EMILIN1, FBXO38, GARS1*, HSPB1, HSPB3, HSPB8, IGHMBP2*^,**, PLEKHG5, REEP1, SETX, SIGMAR1, SLC5A7, SORD, SPTAN1*, SYT2, TRPV4*, VRK1, VWA1, WARS1

^{* auch als Einzelgen-Diagnostik mittels Sanger-Sequenzierung verfügbar
** auch als Einzelgen-Diagnostik mittels MLPA-Analyse verfügbar}

Material

3 - 5 ml EDTA-Blut

Dauer

4 - 6  Wochen