Orphanet: Diagnosi molecolare delle delezioni multiple del DNA mitocondriale analisi del DNA mitocondriale e sequenziamento dei geni POLG, C10ORF2, ANT1, POLG2, RRM2B

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Molecular diagnosis of multiple mitochondrial DNA deletion syndrome (mtDNA and POLG, C10ORF2, ANT1, POLG2, RRM2B genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 05/03/2012
  • 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: March 2012

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Deletion / Duplication analysis

List of diseases and genes

List of genes tested (including panels) (5)
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