Orphanet: Diagn�stico de los errores cong�nitos raros del metabolismo panel
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Diagnosis of rare inborn errors of metabolism (panel)

  • Laboratorio de Metabolopatas
  • Complejo Hospitalario Universitario de Santiago
  • Travesa de Choupana s/n
  • 15706 SANTIAGO DE COMPOSTELA
  • SPAIN
  • Director of laboratory : -
  • More information
  • Phone : 34 981955697
  • Additional Phone : -
  • Fax : -
  • Website
Last update: March 2020

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (179)

Quality management

EQA
 EQA

EQA scheme(s) organized by EMQN

PKU (Phenylketonuria)
2015
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