Orphanet: Diagnostik des Charcot Marie Tooth Syndroms Typ 2A1, A2, B, B1, D, E, F, H, I, J, K, L Gene: GARS, GDAP1, HSPB1, HSPB8, KIF1B, LMNA, MFN2, MPZ, NEFL, RAB7A
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Diagnosis of Charcot-Marie-Tooth disease type 2A1, A2, B, B1, D, E, F, H, I, J, K, L (GARS, GDAP1, HSPB1, HSPB8, KIF1B, LMNA, MFN2, MPZ, NEFL, RAB7A genes)

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Last update: July 2014

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing

Additional information

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