Porphyria: Uroporphyrinogen decarboxylase
Porphyrie: Uroporphyrinogen-DecarboxylaseOMIM
176100
Gensymbole
UROD
Material
EDTA-Blut: 1-2 ml
Methode
PCR, Sequenzierung und MLPA der 10 Exons
Indication
V.a. Porphyria cutanea tarda,
V.a. hepatoerythropoetische Porphyrie (HEP)
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