Orphanet: Diagn�stico de la deficiencia de piruvato deshidrogenasa panel de genes
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Diagnosis of pyruvate dehydrogenase deficiency (gene panel)

  • Reference Laboratory Genetics
  • Reference Laboratory Genetics
  • Calle Pablo Iglesias 57
  • 08908 L'HOSPITALET DE LLOBREGAT
  • SPAIN
  • Director of laboratory : -
  • More information
  • Phone : 34 932593700
  • Additional Phone : -
  • Fax : -
  • Website
  • Contact
Last update: July 2017

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)
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