Orphanet: Diagn�stico molecular da Acondrogenese tipo 1B gene SLC26A2: pesquisa das muta��es mais comuns R279W, R178X, IVS1 2TC, C653S

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Molecular diagnosis of Achondrogenesis type 1B (SLC26A2 gene: Target mutation analysis - panel of mutations R279W, R178X, IVS1+2T>C, C653S)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 03/07/2014
  • CGC Genetics / Centro de Gentica Clnica
  • CGC Genetics / Centro de Gentica Clnica
  • Rua de S da Bandeira 706, 1
  • 4000-432 PORTO
  • Director of laboratory : Dr Jorge PINTO BASTO
  • More information
  • Phone : 351 223 389 900
  • Additional Phone : -
  • Fax : 351 222 088 710
  • Website
  • Contact
Last update: July 2014

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (1)

Additional information

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.