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
  • PORTUGAL
  • 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

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
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List of diseases and genes

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

Additional information

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.