Orphanet: Molecular diagnosis of achondrogenesis type 1B SLC26A2 gene complete sequencing

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Molecular diagnosis of achondrogenesis type 1B (SLC26A2 gene; complete sequencing)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 28/04/2015
  • Laboratoire CMM Centre des Maladies Moléculaires
  • Centre Hospitalier Universitaire Vaudois CHUV
  • Avenue Pierre Decker 2
  • 1011 LAUSANNE
  • Director of laboratory : Dr Belinda CAMPOS XAVIER
  • More information
  • Phone : 0041 (0)21 314 53 51
  • Additional Phone : -
  • Fax : -
  • Website
  • Contact
Last update: April 2015

Responsible of diagnostic test


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.