Ataxie
- Parameter
- Methode
- Material
- Einheit/Referenz
- Ataxie
-
Gen-Panel/NGS
-
EDTA-Blut
2
ml
-
siehe Befundbericht
Großes Panel
SLC17A5 (604322), RNF170 (614649), VLDLR (192977), PHYH (602026), ABCB7 (300135), SYT14 (610949), TTBK2 (611695), TSEN54 (608755), PMM2 (601785), SACS (604490), ATXN10 (611150), CYP27A1 (606530), PLEKHG4 (609526), PPP2R2B (604325), WWOX (605131), PRKCG (176980), BTD (609019), ATXN2 (601517), APTX (606350), BEAN1 (612051), NPC2 (601015), SYNE1 (608441), CAMTA1 (611501), MRE11A (600814), SETX (608465), ANO10 (613726), ATM (607585), TTPA (600415), GCLC (606857), PLA2G6 (603604), CHMP1A (164010), ATN1 (607462), ATXN1 (601556), DARS2 (610956), ALG6 (604566), ATP7B (606882), NOP56 (614154), ATXN7 (607640), RARS2 (611524), DNMT1 (126375), NPC1 (607623), FXN (606829), MTPAP (613669), SPTBN2 (604985), GRM1 (604473), POLG (174763), TMEM216 (613277), SLC1A3 (600111), FLVCR1 (609144), KCNJ10 (602208), DLAT (608770), PDHX (608769), TSEN2 (608753), CA8 (114815), SIL1 (608005), CP (117700), ATXN3 (607047), OPHN1 (300127), ABHD12 (613599), TMEM67 (609884), DNAJC19 (608977), KCNC3 (176264), PDYN (131340), FGF14 (601515), KCNA1 (176260), ITPR1 (147265), NEU1 (608272), TSEN34 (608754), SPR (182125), ADCK3 (606980), AFG3L2 (604581), TDP1 (607198), VRK1 (602168), GALC (606890), TGM6 (613900), TBP (600075), ATCAY (608179), EXOSC3 (606489), CACNA1A (601011), WFS1 (606201)