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Diagnosis of Lri-Weill dyschondrosteosis, mesomelic dwarfism, Langer type and idiopathic short stature (SHOX gene: mutations, deletions, duplications)

  • Dpartement de Gntique et de Biologie Spcialise
  • Laboratoire Cerba
  • 7/11 rue de l'querre
  • 95310 SAINT-OUEN-L'AUMNE
  • FRANCE
  • Director of laboratory : Dr Sylvie CADO
  • More information
  • Phone : 33 (0)1 34 40 20 20
  • Additional Phone : -
  • Fax : 33 (0)1 34 40 21 29
  • Website
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
Deletion / Duplication analysis
MLPA based techniques

List of diseases and genes

List of genes tested (including panels) (1)

Quality management

EQA
 EQA

EQA scheme(s) organized by EMQN

SHOX (Short stature homeobox gene testing)
2014
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.