Orphanet: Diagnostik der heredit�ren H�mochromatose Typ 1 5 Gene: BMP6, HAMP, HFE, HFE2, SLC40A1 and TFR2
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Diagnosis of hereditary hemochromatosis types 1-5 (BMP6, HAMP, HFE, HFE2, SLC40A1 and TFR2 genes)

  • Abteilung Molekulargenetik
  • Zentrum fr Humangenetik und Laboratoriumsdiagnostik (MVZ)
  • Lochhamer Str. 29
  • 82152 MARTINSRIED
  • GERMANY
  • Director of laboratory : Dr Imma ROST
  • More information
  • Phone : 49 (0)89 89 55 78 0
  • Additional Phone : -
  • Fax : 49 (0)89 89 55 78 780
  • Website
  • Contact
Last update: July 2018

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Targeted mutation analysis
NGS sequencing (except WES)
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
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
MLPA based techniques
Deletion / Duplication analysis
NGS sequencing (except WES)

List of diseases and genes

List of genes tested (including panels) (6)

Quality management

EQA
 EQA

EQA scheme(s) organized by DGKL/RfB

HFE
2017

EQA scheme(s) organized by EMQN

HFE (Hereditary hemochromatosis)
2018, 2019
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.