Multigen-Diagnostik

Panel-Nummer: ID374.02

Gene (245)

Methodik

Mittels Next-Generation-Sequencing (NGS) werden die o. g. Gene parallel analysiert (DNA-Sequenz, ggf. Kopienzahlvariation (CNV)).

Als Bestätigungsanalyse kann ggf. eine Sanger-Sequenzanalyse bzw. eine MLPA-Analyse (Multiplex-Ligation-dependent-Product-Amplification) durchgeführt werden.

Diagnostik

Gen-Panel ID374.02

Hereditäre Neuropathien (HMSN, HSAN, SMA), umfassende Diagnostik: 245 Gene (598,6 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*^,**, ATP13A2, ATP1A1, ATP7A*^,**, ATXN10, ATXN1, ATXN2, ATXN3, ATXN7, B4GALNT1, BAG3, BCKDHB, BICD2, BSCL2*, CADM3, CAPN1, CD59, CFAP276, CHCHD10, CLP1, CNTNAP1, COA7, COQ7, COX20, COX6A1, CPOX, CTDP1, CYP27A1, CYP2U1, 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, PEX10, PEX7, 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, SCN10A, SCN11A, SCN9A*, SCO2, SEPTIN9, SETX, SH3TC2*, SIGMAR1, SLC12A6, SLC25A19, SLC25A46, SLC52A2, SLC52A3, SLC5A6, SLC5A7, SMN1*^,**, SMN2*^,**, SORD, SOX10*^,**, SPAST, SPG11, SPG7, 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*

Hereditäre motorisch-sensible Neuropathie (HMSN): 64 Gene (165,6 kb)

AARS1, AIFM1, ARHGEF10, ATP1A1, CADM3, CNTNAP1, COX6A1, DHTKD1, DNM2*, DYNC1H1, EGR2*, FBLN5, FGD4, FIG4, GAN, GBF1, GDAP1*, GJB1*^,**, GNB4, HARS1, HINT1, HK1, 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, SBF1, SBF2, SH3TC2*, SLC12A6, SLC25A46, SPG11, SPTLC1, SURF1*, TRIM2, VCP,  YARS1*

Hereditäre sensorische und autonome Neuropathie (HSAN, HSN): 16 Gene (57,5 kb)

ATL1, ATL3, DNMT1, DST, ELP1*, KIF1A, NGF, NTRK1, PRDM12, RETREG1, SCN9A*, SCN11A, SPTLC1*, SPTLC2, TECPR2, WNK1

Spinale Muskelatrophie (SMA, HMN): 39 Gene (89,5 kb)

AR*^,**, ASAH1, ASCC1, ATP7A*^,**, BAG3, BICD2, BSCL2*, CHCHD10, COQ7, DCTN1, DNAJB2, DYNC1H1, EMILIN1, EXOSC3, FBXO38, GARS1*, HSPB1, HSPB3, HSPB8, IGHMBP2*^,**, PLEKHG5, REEP1, RTN2, SETX, SIGMAR1, SLC5A7, SLC25A46, SMN1*^,**, SMN2*^,**, SORD, SPTAN1*, SYT2, TRIP4, TRPV4*, UBA1, VAPB, 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