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Diagnostik
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Material
2.7 ml EDTA, bitte separates Röhrchen -
Methode
Next Generation Sequencing (NGS) -
Dauer
2 - 4 Wochen -
Genanzahl
90
-
Gene
- ABCA1 ,
- ABCB7 ,
- ADCK3 ,
- AFG3L2 ,
- AMACR ,
- ANO10 ,
- APTX ,
- ARG1 ,
- ASL ,
- ASS1 ,
- ATM ,
- ATP7B ,
- BCKDHA ,
- BCKDHB ,
- C10orf2 ,
- C12orf65 ,
- CACNA1A ,
- CACNA1C ,
- CACNA1G ,
- CACNB4 ,
- CLCN2 ,
- COQ2 ,
- COQ4 ,
- COQ6 ,
- COQ8A ,
- COQ9 ,
- CPS1 ,
- CSF1R ,
- CYP27A1 ,
- DARS2 ,
- DBT ,
- DNMT1 ,
- ELOVL4 ,
- ETFA ,
- ETFB ,
- ETFDH ,
- FGF14 ,
- FXN ,
- GFAP ,
- GOSR2 ,
- HEXA ,
- HEXB ,
- HSD17B4 ,
- ITPR1 ,
- IVD ,
- KCNA1 ,
- KCNC3 ,
- KCND3 ,
- KCNJ10 ,
- MRE11A ,
- NPC1 ,
- NPC2 ,
- OTC ,
- PDHA1 ,
- PDSS1 ,
- PDSS2 ,
- PDYN ,
- PEX6 ,
- PEX7 ,
- PHYH ,
- PIK3R5 ,
- PMPCA ,
- PNKP ,
- PNPLA6 ,
- POLG ,
- PPP2R2B ,
- PRKCG ,
- PRNP ,
- PRRT2 ,
- REEP1 ,
- SACS ,
- SCN2A ,
- SETX ,
- SIL1 ,
- SLC1A3 ,
- SLC25A15 ,
- SLC2A1 ,
- SLC52A3 ,
- SLC6A19 ,
- SLC9A1 ,
- SPG7 ,
- SPTBN2 ,
- SYNE1 ,
- TACO1 ,
- TGM6 ,
- TSEN54 ,
- TTBK2 ,
- TTC19 ,
- TTPA ,
- VPS13D
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Hinweise / Bemerkungen
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Akkreditierung
nicht akkreditiertes Verfahren -
Stand
4. Februar 2025
