Molekulargenetik
Stoffwechselerkrankungen
Anforderungsbeleg
AFB Molekulargenetik
Maturity onset diabetes of the young (MODY)
ABCC8, APPL1, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1
Mikrodeletionssyndrom 17q12
MLPA 17q12
Morbus Fabry
GLA
Morbus Gaucher
GBA
Morbus Meulengracht
UGT1A1
Morbus Pompe
GAA
Morbus Wilson
ATP7B