Orphanet: Diagnosi molecolare delle deplezioni del DNA mitocodnriale analisi del mtDNA e sequenziamento dei geni TK2, DGUOK, POLG1, MPV17, C10ORF, RRM2B, SUCLA2, SUCLG1, TYMP

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Molecular diagnosis of mtDNA depletion syndrome (mtDNA and TK2, DGUOK, POLG1, MPV17, C10ORF, RRM2B, SUCLA2, SUCLG1, TYMP genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 13/09/2011
  • U.O. di Neurogenetica Molecolare
  • Dipartimento di Diagnostica e Tecnologia Applicata
  • Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
  • Via Libero Temolo 4
  • 20126 MILANO
  • Director of laboratory : Dr Barbara GARAVAGLIA
  • More information
  • Phone : 39 02 23942604
  • Additional Phone : 39 02 23942618
  • Fax : 39 02 23942619
  • Website
  • Contact
Last update: September 2011

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (9)
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