Orphanet: Diagnostic des anomalies du métabolisme du fer Panel
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Diagnosis of iron metabolism disoders (Panel)

  • Dpartement de Gntique
  • CHU Paris Nord-Val de Seine - Hpital Xavier Bichat-Claude Bernard
  • 46 rue Henri Huchard
  • 75018 PARIS
  • FRANCE
  • Director of laboratory : Pr Catherine BOILEAU
  • More information
  • Phone : 33 (0)1 40 25 85 45
  • Additional Phone : 33 (0)1 40 25 88 51
  • Fax : 33 (0)1 40 25 88 71
  • Contact
Last update: May 2018

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

List of diseases and genes

List of genes tested (including panels) (9)

Quality management

EQA
 EQA

EQA scheme(s) organized by EMQN

HFE (Hereditary hemochromatosis)
2014
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.