Orphanet: Diagnostic de la porphyrie Panel
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Diagnosis of porphyria (Panel)

  • Département de Génétique
  • CHU Paris Nord-Val de Seine - Hôpital 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: February 2020

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
NGS sequencing (except WES)
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
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