-
Diagnostik
-
Material
2.7 ml EDTA, bitte separates Röhrchen -
Methode
Next Generation Sequencing (NGS) -
Dauer
8 - 12 Wochen -
Genanzahl
100
-
Gene
- AARS1 ,
- ABCA1 ,
- AIFM1 ,
- ALS2 ,
- ANG ,
- ARHGEF10 ,
- ATL1 ,
- ATP7A ,
- BAG3 ,
- BSCL2 ,
- C12orf65 ,
- COX10 ,
- CTDP1 ,
- CYP27A1 ,
- DCTN1 ,
- DNAJB2 ,
- DNM2 ,
- DYNC1H1 ,
- EGR2 ,
- FAM126A ,
- FBLN5 ,
- FGD4 ,
- FIG4 ,
- FUS ,
- FXN ,
- GALC ,
- GAN ,
- GARS1 ,
- GDAP1 ,
- GJB1 ,
- GLA ,
- GSN ,
- HADHA ,
- HADHB ,
- HARS ,
- HARS1 ,
- HK1 ,
- HSPB1 ,
- HSPB3 ,
- HSPB8 ,
- IFRD1 ,
- IGHMBP2 ,
- IKBKAP ,
- INF2 ,
- KARS ,
- KIF1B ,
- KIF5A ,
- LITAF ,
- LMNA ,
- LRSAM1 ,
- MED25 ,
- MFN2 ,
- MPV17 ,
- MPZ ,
- MTMR2 ,
- MYH14 ,
- NAGLU ,
- NDRG1 ,
- NDUFAF5 ,
- NEFL ,
- NIPA1 ,
- OPTN ,
- PDHA1 ,
- PEX12 ,
- PLEKHG5 ,
- PLP1 ,
- PMP22 ,
- POLG ,
- PRPS1 ,
- PRX ,
- RAB7A ,
- REEP1 ,
- SACS ,
- SBF2 ,
- SCN9A ,
- SEPT9 ,
- SETX ,
- SH3TC2 ,
- SIGMAR1 ,
- SIL1 ,
- SLC12A6 ,
- SLC52A3 ,
- SLC5A7 ,
- SMAD3 ,
- SPAST ,
- SPG11 ,
- SPTLC1 ,
- SPTLC2 ,
- SURF1 ,
- SYT2 ,
- TARDBP ,
- TDP1 ,
- TNNT2 ,
- TRPV4 ,
- TTR ,
- TUBB3 ,
- TYMP ,
- VAPB ,
- VCP ,
- YARS
-
-
Hinweise / Bemerkungen
-
Akkreditierung
nicht akkreditiertes Verfahren -
Stand
30. Januar 2024
