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Diagnosis of rare inborn errors of metabolism (panel)

  • Laboratorio de Metabolopatias
  • Servicio de Laboratorios Clnicos
  • Hospital Universitari Vall d'Hebron
  • Paseo Vall d'Hebron, 119-129
  • 08035 BARCELONA
  • SPAIN
  • Director of laboratory : -
  • More information
  • Phone : 34 93 489 42 91
  • Additional Phone : -
  • Fax : 34 93 274 68 37
  • Website
Last update: April 2020

Responsible of diagnostic test

Purpose(s)

Pre-implantation diagnosis
Post-natal diagnosis

Technical procedure(s)

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

List of diseases and genes

List of diseases tested (235)
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