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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
61
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Gene
- ABHD5 ,
- ACAD9 ,
- ACADL ,
- ACADM ,
- ACADS ,
- ACADVL ,
- AGK ,
- AGL ,
- AHCY ,
- ALDOA ,
- AMPD1 ,
- CAV3 ,
- CPT2 ,
- DGUOK ,
- ECHS1 ,
- ENO3 ,
- ETFA ,
- ETFB ,
- ETFDH ,
- FLAD1 ,
- GAA ,
- GBE1 ,
- GYG1 ,
- GYS1 ,
- GYS2 ,
- HADHA ,
- HADHB ,
- HSPB8 ,
- LAMA2 ,
- LAMP2 ,
- LDHA ,
- LPIN1 ,
- MLIP ,
- MPV17 ,
- MRM2 ,
- NDUFB8 ,
- PFKM ,
- PFKP ,
- PGAM2 ,
- PGK1 ,
- PGM1 ,
- PHKA1 ,
- PHKB ,
- PNPLA2 ,
- PNPLA8 ,
- POLG ,
- PRKAG2 ,
- PYGM ,
- RBCK1 ,
- RRM2B ,
- RYR1 ,
- SCN4A ,
- SLC16A1 ,
- SLC22A5 ,
- SLC25A1 ,
- SLC25A20 ,
- SLC25A4 ,
- SUCLA2 ,
- SUCLG1 ,
- TK2 ,
- VMA21
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-
Hinweise / Bemerkungen
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Akkreditierung
nicht akkreditiertes Verfahren -
Stand
7. November 2025
