Orphanet: Diagnostik des Charcot Marie Tooth Syndroms Typ 2A2, B1, C, E, H, I, J, K Gene: GDAP1, LMNA, NEFL, MFN2, MPZ, TRPV4: Sequenzierung, MLPA

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Diagnosis of Charcot-Marie-Tooth disease type 2A2, B1, C, E, H, I, J, K (GDAP1, LMNA, NEFL, MFN2, MPZ, TRPV4 genes: sequencing, MLPA)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 01/03/2016
  • SYNLAB Medizinisches Versorgungszentrum Humangenetik Mannheim GmbH
  • Zweigniederlassung der SYNLAB MVZ Mannheim GmbH
  • Zentrum für Humangenetik Mannheim
  • Harrlachweg 1
  • 68163 MANNHEIM
  • Director of laboratory : Dr Rüdiger KLÄS
  • More information
  • Phone : 49 (0)621 422 86 0
  • Additional Phone : -
  • Fax : 49 (0)621 422 86 88
  • Website
  • Contact
Last update: March 2016


Post-natal diagnosis

Technical procedure(s)

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

Additional information

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