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
  • SPAIN
  • Director of laboratory : -
  • More information
  • Phone : 34 915 50 48 72
  • Additional Phone : -
  • Fax : 34 915 44 87 35
  • Website
Last update: March 2017

Purpose(s)

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)
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