Orphanet: Diagnostik der progressiven externen Ophthalmoplegie Gene: MT TL1, POLG, RRM2B, TK2, TWNK

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Diagnosis of progressive external ophthalmoplegia (MT-TL1, POLG, RRM2B, TK2, TWNK genes)

  • AG Mitochondriale Erkrankungen
  • Klinik und Poliklinik für Neurologie
  • Universitätsklinikum Carl Gustav Carus an der TU Dresden
  • Fetscherstrasse 74
  • 01307 DRESDEN
  • Director of laboratory : -
  • More information
  • Phone : 0049 (0)351 4582592
  • Additional Phone : -
  • Fax : -
  • Website
  • Contact
Last update: September 2019

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
PCR based techniques
Sequence analysis: entire coding region
Sanger sequencing
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