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Diagnostik
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Material
2.7 ml EDTA, bitte separates Röhrchen -
Methode
Next Generation Sequencing (NGS) -
Dauer
2 Wochen -
Genanzahl
127
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Gene
- ACTG1 ,
- ADCY1 ,
- AIFM1 ,
- ATP2B2 ,
- BDP1 ,
- BSND ,
- CABP2 ,
- CATSPER2 ,
- CCDC50 ,
- CD164 ,
- CDC14A ,
- CDH23 ,
- CEACAM16 ,
- CIB2 ,
- CKMT1A ,
- CKMT1B ,
- CLDN14 ,
- CLDN9 ,
- CLIC5 ,
- CLRN2 ,
- COCH ,
- COL11A1 ,
- COL11A2 ,
- COL4A6 ,
- CRYM ,
- DCDC2 ,
- DFNA5 ,
- DIABLO ,
- DIAPH1 ,
- DMXL2 ,
- DSPP ,
- ELMOD3 ,
- EPS8 ,
- EPS8L2 ,
- ESPN ,
- ESRP1 ,
- ESRRB ,
- EYA4 ,
- GAB1 ,
- GAS2 ,
- GIPC3 ,
- GJB2 ,
- GJB3 ,
- GJB6 ,
- GPSM2 ,
- GRAP ,
- GRHL2 ,
- GRXCR1 ,
- GRXCR2 ,
- GSDME ,
- HGF ,
- HOMER2 ,
- IFNLR1 ,
- ILDR1 ,
- KARS1 ,
- KCNQ4 ,
- KITLG ,
- LHFPL5 ,
- LMX1A ,
- LOXHD1 ,
- LRTOMT ,
- MAP1B ,
- MARVELD2 ,
- MCM2 ,
- MET ,
- MIR96 ,
- MPZL2 ,
- MSRB3 ,
- MYH14 ,
- MYH9 ,
- MYO15A ,
- MYO1A ,
- MYO3A ,
- MYO6 ,
- MYO7A ,
- NARS2 ,
- NLRP3 ,
- OSBPL2 ,
- OTOA ,
- OTOF ,
- OTOG ,
- OTOGL ,
- P2RX2 ,
- PCDH15 ,
- PDE1C ,
- PDZD7 ,
- PJVK ,
- PLS1 ,
- PNPT1 ,
- POU3F4 ,
- POU4F3 ,
- PPIP5K2 ,
- PRPS1 ,
- PTPRQ ,
- RDX ,
- REST ,
- RIPOR2 ,
- ROR1 ,
- S1PR2 ,
- SCD5 ,
- SERPINB6 ,
- SIX1 ,
- SLC12A2 ,
- SLC17A8 ,
- SLC22A4 ,
- SLC26A4 ,
- SLC26A5 ,
- SMPX ,
- SPNS2 ,
- STRC ,
- SYNE4 ,
- TBC1D24 ,
- TECTA ,
- TJP2 ,
- TMC1 ,
- TMEM132E ,
- TMIE ,
- TMPRSS3 ,
- TNC ,
- TPRN ,
- TRIOBP ,
- TRRAP ,
- TSPEAR ,
- USH1C ,
- WBP2 ,
- WFS1 ,
- WHRN
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Hinweise / Bemerkungen
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Akkreditierung
nicht akkreditiertes Verfahren -
Stand
4. Februar 2025