Orphanet: Diagnosi molecolare e biochimica delle encefalomiopatie metaboliche geni ETFDH, ETF, CPT2, MCAD, VLCAD
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Molecular and biochemical diagnosis of metabolic encephalomyopathies (ETFDH, ETF, CPT2, MCAD, VLCAD genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 06/10/2010
  • U.O.C. Genetica Medica e Neurogenetica
  • Dipartimento di Diagnostica e Tecnologia Applicata
  • Fondazione IRCCS Istituto Neurologico "Carlo Besta"
  • Via Celoria 11
  • 20133 MILANO MI
  • ITALY
  • Director of laboratory : Dr Franco TARONI
  • More information
  • Phone : 39 02 23942269
  • Additional Phone : 39 02 23944580
  • Fax : 39 02 23942140
  • Website
Last update: October 2010

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
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Biochemical genetics
Analyte / Enzyme assay
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