Orphanet: Diagnostic de la forme symptomatique de l_h�mochromatose de type 1 g�ne HFE mutations hot spot p.Cys282Tyr p.His63Asp

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Diagnosis of symptomatic form of hemochromatosis type 1(HFE gene; hot spot mutations - p.Cys282Tyr; p.His63Asp)

  • Centrum voor Medische Genetica
  • UZ Gent
  • Center for Medical Genetics Gent
  • C. Heymanslaan 10 (Entrance 34 (Medical Research Building))
  • 9000 GENT
  • Director of laboratory : Pr Bruce POPPE
  • More information
  • Phone : +32 (0)9 332 36 03
  • Additional Phone : -
  • Fax : +32 (0)9 332 49 70
  • Website
  • Contact
Last update: March 2020

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (1)

Quality management


EQA scheme(s) organized by EMQN

HFE (Hereditary hemochromatosis)
2017, 2019
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