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Diagnosis of neurodegeneration with brain iron accumulation (Panel)

  • Laboratoire de génétique moléculaire
  • Plateau Technique de Biologie Moléculaire (PTBM) - Tripode 1er étage
  • CHU de Bordeaux-GH Pellegrin
  • Place Amélie Raba-Léon
  • 33076 BORDEAUX CEDEX
  • FRANCE
  • Director of laboratory : Dr Benoit ARVEILER
  • More information
  • Phone : 33 (0)5 56 79 59 81
  • Additional Phone : 33 (0)5 56 79 87 23
  • Fax : -
  • Contact
Last update: June 2022

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

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