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Diagnostik
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Material
2.7 ml EDTA, bitte separates Röhrchen -
Methode
Next Generation Sequencing (NGS) -
Dauer
8 - 12 Wochen -
Genanzahl
58
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Gene
- AARS1 ,
- AARS2 ,
- ABCD1 ,
- ACOX1 ,
- ADAR ,
- AIMP1 ,
- ALDH3A2 ,
- ARSA ,
- ASPA ,
- CLCN2 ,
- CSF1R ,
- CYP27A1 ,
- DARS2 ,
- EARS2 ,
- FAM126A ,
- FUCA1 ,
- GALC ,
- GBE1 ,
- GFAP ,
- GJA1 ,
- GJC2 ,
- HEPACAM ,
- HSD17B4 ,
- HSPD1 ,
- HTRA1 ,
- IFIH1 ,
- L2HGDH ,
- LMNB1 ,
- MLC1 ,
- NOTCH3 ,
- PEX1 ,
- PEX10 ,
- PEX11B ,
- PEX12 ,
- PEX13 ,
- PEX14 ,
- PEX16 ,
- PEX19 ,
- PEX2 ,
- PEX26 ,
- PEX3 ,
- PEX5 ,
- PEX6 ,
- PEX7 ,
- PLP1 ,
- POLR1C ,
- POLR3A ,
- POLR3B ,
- RNASEH2A ,
- RNASEH2B ,
- RNASEH2C ,
- RNASET2 ,
- SAMHD1 ,
- SCP2 ,
- SLC17A5 ,
- SOX10 ,
- SUMF1 ,
- TREX1
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Hinweise / Bemerkungen
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Akkreditierung
nicht akkreditiertes Verfahren -
Stand
4. Februar 2025
