Orphanet: Diagnostic des hémochromatoses héréditaires Panel
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Diagnosis of hereditary hemochromatosis (Panel)

  • Laboratoire de biologie molculaire
  • Genetique Oncologique et Endocrinienne
  • CHU de Marseille - Hpital de la Conception
  • 147 Boulevard Baille
  • 13385 MARSEILLE CEDEX 5
  • FRANCE
  • Director of laboratory : Pr Anne BARLIER
  • More information
  • Phone : 33 (0)4 91 38 39 16
  • Additional Phone : 33 (0)4 91 38 13 42
  • Fax : 33 (0)4 91 38 30 81
  • Website
  • Contact
Last update: February 2020

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
NGS sequencing (except WES)
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)

List of diseases and genes

List of genes tested (including panels) (7)
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