Orphanet: Diagnostic de la lipodystrophie partielle familiale associ�e � des mutations du g�ne PPARG
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Diagnosis of familial partial lipodystrophy associated with PPARG mutations

  • Laboratoire de biochimie et biologie molculaire
  • Centre de Biologie Sud - Espace Jacques Monot
  • CHU de Lyon HCL - GH Sud
  • 165 Chemin du Grand Revoyet
  • 69495 PIERRE-BENITE CEDEX
  • FRANCE
  • Director of laboratory : Pr Claire RODRIGUEZ-LAFRASSE
  • More information
  • Phone : 33 (0)4 78 86 29 72
  • Additional Phone : -
  • Fax : 33 (0)4 78 86 66 54
  • Contact
Last update: February 2019

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
PCR based techniques
Sequence analysis: entire coding region
Sanger sequencing

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (1)
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