Orphanet: Diagn�stico molecular de hemocromatose familiar tipos 1, 2, 3, 4 gene HFE:muta��es H63D, S65D, C282Y sequencia��o dos genes HFE, TFR2, SLC40A1, HAMP, HJV

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Molecular diagnosis of familial hemochromatosis (1, 2, 3, 4 types): analysis of the entire coding region of HFE, TFR2, SLC40A1, HAMP, HJV genes; and mutations H63D, S65D, C282Y for HFE gene

Despite our efforts to ensure that data is up to date, this activity has not been validated since 13/07/2015
  • Centro de Gentica Preditiva e Preventiva
  • Instituto de Biologia Molecular e Celular
  • Rua do Campo Alegre, 823
  • 4150-180 PORTO
  • Director of laboratory : Pr Jorge SEQUEIROS
  • More information
  • Phone : 351 226 074 942
  • Additional Phone : -
  • Fax : 351 226 002 923
  • Website
  • Contact
Last update: July 2015

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (5)

Additional information

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