Orphanet: Diagn�stico molecular de Aniridia gene PAX6: Sequencia��o de toda a regi�o codificante e an�lise de dele��o por MLPA
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Molecular diagnosis of Aniridia (PAX6 gene: Sequencing of entire coding region and deletion analysis by MLPA)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 10/07/2014
  • CGC Genetics / Centro de Gentica Clnica
  • CGC Genetics / Centro de Gentica Clnica
  • Rua de S da Bandeira 706, 1
  • 4000-432 PORTO
  • PORTUGAL
  • 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

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Deletion / Duplication analysis
MLPA based techniques

List of diseases and genes

List of genes tested (including panels) (1)
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