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Porphyria

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

Download requisition form

Contact person analyzes program

Dr. rer. nat. Thomas Haverkamp

Biologist Molecular Haemato-oncology, hereditary cancer syndromes
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