Porphyria: Porphobilinogen deaminase (Hydroxymethylbilane synthase/UROI synthase)
Porphyrie: Porphobilinogen-Desaminase (syn. Hydroxymethylbilan-Synthase, syn. 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
Contact person analyzes program
Dr. rer. nat. Thomas Haverkamp
Biologist Molecular Haemato-oncology, hereditary cancer syndromes- +49 231 9572-6617
- 0231 9572-86618