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Diagnosis of primary interstitial lung disease (SFTPB, SFTPC, ABCA3, NKX2-1 genes)

  • Laboratoire de Gntique Molculaire
  • Dpartement de Biochimie-biologie molculaire, Pharmacologie, gntique mdicale
  • Hpitaux Universitaires Henri Mondor
  • 1 rue Gustave Eiffel
  • 94010 CRTEIL CEDEX
  • FRANCE
  • Director of laboratory : Pr Benot FUNALOT
  • More information
  • Phone : 33 (0)1 49 81 28 73
  • Additional Phone : -
  • Fax : 33 (0)1 49 81 22 19
  • Contact
Last update: February 2020

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
Deletion / Duplication analysis
MLPA based techniques
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