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Diagnosis of pachydermoperiostosis (HPGD and SLCO2A1 genes)

  • UF de Biochimie spcialise et de Gntique Molculaire
  • Service de biochimie et biologie molculaire - Ple B2P
  • CHU Paris-GH St-Louis Lariboisire F.Widal - Hpital Lariboisire
  • 2 rue Ambroise Par
  • 75010 PARIS
  • FRANCE
  • Director of laboratory : Pr Jean-Louis LAPLANCHE
  • More information
  • Phone : 33 (0)1 49 95 64 34
  • Additional Phone : -
  • Fax : 33 (0)1 49 95 84 77
  • Contact
Last update: February 2018

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (2)
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.