Orphanet: Diagn�stico de la acondrog�nesis de tipo 1B gen SLC26A2

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Diagnosis of achondrogenesis type 1B (SLC26A2 gene)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 29/03/2017
  • Servicio de Gentica Clnica
  • Hospital Universitario Fundacin Jimnez Daz
  • Avenida Reyes Catlicos, 2
  • 28040 MADRID
  • Director of laboratory : -
  • More information
  • Phone : 34 915 50 48 72
  • Additional Phone : -
  • Fax : 34 915 44 87 35
  • Website
Last update: March 2017


Antenatal diagnosis
Pre-implantation diagnosis
Post-natal diagnosis
Risk assessment

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 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.