Orphanet: Diagnosi molecolare dei deficit multipli della catena respiratoria analisi del DNA mitocondriale e sequenziamento dei geni AIFM1, PUS1
x

Search for a diagnostic test

* (*) mandatory field

Molecular diagnosis of combined oxidative phosphorylation defect (mtDNA and AIFM, PUS1 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
  • ITALY
  • 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

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
-
-
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.