Orphanet: Diagn�stico de la acondrog�nesis gen SLC26A2
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Diagnosis of achondrogenesis (SLC26A2 gene)

  • Fundacin Pblica Galega de Medicina Xenmica
  • Hospital Clnico Universitario de Santiago
  • Travesa de Choupana s/n
  • 15706 SANTIAGO DE COMPOSTELA
  • SPAIN
  • Director of laboratory : Dr Angel CARRACEDO LVAREZ
  • More information
  • Phone : 349 81 95 14 91
  • Additional Phone : -
  • Fax : 349 81 95 14 73
  • Website
  • Contact
Last update: September 2018

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Mutation scanning/screening and sequence analysis of selected exons
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.