Orphanet: Diagnostik des Charcot Marie Tooth Syndroms Typ 2A1, A2, B1, B5, D, E, I, J Gene: GARS, KIF1B, LMNA, MFN2, MPZ, NEFL

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Diagnosis of Charcot-Marie-Tooth disease type 2A1, A2, B1, B5, D, E, I, J (GARS, KIF1B, LMNA, MFN2, MPZ, NEFL genes)

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Last update: July 2018


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
MLPA based techniques

Additional information

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