Molekulargenetik

Erkrankungen Gene

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Anforderungsbeleg

AFB_Molekulargenetik

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Juvenile Myoklonusepilepsie / Myoklonusepilepsie, Basisdiagnostik

CACNB4, CLCN2, EFHC1, EPM2A, GABRA1, GABRD, KCNC1, KCNMA1, NHLRC1, PRICKLE1, PRICKLE2, SLC6A1, TBC1D24

Juvenile Myoklonusepilepsie / Myoklonusepilepsie, erweiterte Diagnostik

ASAH1, CASR, CLN3, CLN5, CLN6, CSTB, FOLR1, GLDC, GOSR2, HEXA, HEXB, KCTD7, MYBPC1, NEU1, NOL3, NPC1, NPC2, POLG, PPT1, SCARB2, SGCE, TPP1