Orphanet: Diagn�stico molecular da defici�ncia de piruvato desidrogenase alfa E1 e beta E1 genes PDHA1 e PDHB: sequencia��o de toda a regi�o codificante

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Molecular diagnosis of pyruvate dehydrogenase E1-alpha and E1-beta deficiency (PDHA1 and PDHB genes: sequencing of entire coding region)

  • 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: September 2018

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing

List of diseases and genes

List of genes tested (including panels) (2)
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