Porphyria: Porphobilinogen deaminase (Hydroxymethylbilane synthase/UROI synthase)
OMIM
176000
Gensymbole
HMBS
Material
EDTA-Blut: 1-2 ml
Methode
PCR, Sequenzierung und MLPA der 15 Exons
Indication
V.a. akute, intermittierende Porphyrie
Accredited
yes