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Diagnosis of Borjeson-Forssman-Lehmann syndrome (PHF6 gene)

  • Service de gntique clinique chromosomique et molculaire
  • Ple de biologie
  • CHU de Saint-Etienne - Hpital Nord
  • Avenue Albert Raimond
  • 42270 SAINT-PRIEST-EN-JAREZ
  • FRANCE
  • Director of laboratory : Dr Renaud TOURAINE
  • More information
  • Phone : 33 (0)4 77 82 81 16
  • Additional Phone : -
  • Fax : 33 (0)4 77 82 82 59
  • Website
  • Contact
Last update: February 2019

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing

List of diseases and genes

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