Orphanet: Diagnostic du syndrome de déplétion de l_ADN mitochondrial gènes POLG, TK2, C10ORF2, MPV17, DGUOK et ADN mt
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Diagnosis of mitochondrial DNA depletion syndrome (POLG, TK2, C10ORF2, MPV17, DGUOK genes and mtDNA)

  • Laboratoire de gntique chromosomique et gntique molculaire
  • Service de gntique
  • CHU de Nice - Hpital l'Archet 2
  • 151 Route Saint-Antoine de Ginestire BP 3079
  • 06202 NICE CEDEX 3
  • FRANCE
  • Director of laboratory : Pr Vronique PAQUIS-FLUCKLINGER
  • More information
  • Phone : 33 (0)4 92 03 64 60
  • Additional Phone : 33 (0)4 92 03 62 43
  • Fax : 33 (0)4 92 03 64 65
  • Website
  • Contact
Last update: February 2019

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
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