x

Search for a diagnostic test

* (*) mandatory field

Diagnosis of bone diseases (Panel)

  • Laboratoire de génétique des maladies rares et autoinflammatoires
  • Département Génétique Médicale, Maladies rares et médecine personnalisée
  • CHU de Montpellier - Hôpital Arnaud de Villeneuve
  • 371 avenue du Doyen Gaston Giraud
  • 34295 MONTPELLIER CEDEX 5
  • FRANCE
  • Director of laboratory : Dr Mouna BARAT-HOUARI
  • More information
  • Phone : 33 (0)4 67 33 58 57
  • Additional Phone : -
  • Fax : 33 (0)4 67 33 58 67
  • Website
  • Contact
Last update: June 2022

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

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

List of diseases and genes

List of diseases tested (131)

Quality management

EQA
 EQA

EQA scheme(s) organized by EMQN

Stickler syndrome
2021
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.