Orphanet: Diagnostic du syndrome de Marfan et apparent�s Panel
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Diagnosis of Marfan and Marfan-related disorder (Panel)

  • Dpartement de Gntique
  • CHU Paris Nord-Val de Seine - Hpital Xavier Bichat-Claude Bernard
  • 46 rue Henri Huchard
  • 75018 PARIS
  • FRANCE
  • Director of laboratory : Pr Catherine BOILEAU
  • More information
  • Phone : 33 (0)1 40 25 85 45
  • Additional Phone : 33 (0)1 40 25 88 51
  • Fax : 33 (0)1 40 25 88 71
  • Contact
Last update: May 2018

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis
Pre-symptomatic diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Targeted mutation analysis
PCR based techniques
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)
Deletion / Duplication analysis
PCR based techniques

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.