Orphanet: Diagnostik des Charcot Marie Tooth Syndroms Typ 2A2, B1, E, I, J Gene: LMNA, MFN2, MPZ und NEFL
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Diagnosis of Charcot-Marie-Tooth disease type 2A2, B1, E, I, J (LMNA, MFN2, MPZ and NEFL genes)

  • MVZ Dr. Eberhard und Partner - Bereich Laboratoriumsmedizin und Humangenetik
  • Medizinisches Versorgungszentrum (MVZ) Dr. Eberhard und Partner
  • Brauhausstra▀e 4
  • 44137 DORTMUND
  • GERMANY
  • Director of laboratory : -
  • More information
  • Phone : 49 (0)231 95720
  • Additional Phone : -
  • Fax : 49 (0)231 553619
  • Website
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Last update: July 2017

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing
Deletion / Duplication analysis
MLPA based techniques
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