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Diagnosis of Marfan and Marfan-related disorder (Panel)

  • Unit de gntique mdicale et cytogntique
  • Ple Biologie
  • CHU de Nmes - Hpital Carmeau
  • Place du Pr. Robert Debr
  • 30029 NMES CEDEX 9
  • FRANCE
  • Director of laboratory : Dr Jean CHIESA
  • More information
  • Phone : 33 (0)4 66 68 41 60
  • Additional Phone : -
  • Fax : 33 (0)4 66 68 41 61
  • Website
  • Contact
Last update: February 2019

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Mutation scanning/screening and sequence analysis of selected exons
NGS sequencing (except WES)
Deletion / Duplication analysis
NGS sequencing (except WES)
Deletion / Duplication analysis
Array based techniques
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