Orphanet: Diagn�stico molecular de distrofia neuroaxonal infantil gene PLA2G6: sequencia��o de toda a regi�o codificante e pesquisa de grandes rearranjos por MLPA
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Molecular diagnosis of infantile neuroaxonal dystrophy (PLA2G6 gene: sequencing of entire coding region and deletion/duplication analysis by MLPA)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 28/08/2014
  • Centro de Gentica Preditiva e Preventiva
  • Instituto de Biologia Molecular e Celular
  • Rua do Campo Alegre, 823
  • 4150-180 PORTO
  • PORTUGAL
  • Director of laboratory : Pr Jorge SEQUEIROS
  • More information
  • Phone : 351 226 074 942
  • Additional Phone : -
  • Fax : 351 226 002 923
  • Website
  • Contact
Last update: August 2014

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
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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.