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Diagnosis of autosomal dominant Charcot-Marie-Tooth disease type 2A2, B, B1, C, D, E, F, H, I, J, K, L, M, N, Y (AARS, DNM2, GARS, GDAP1, HSPB1, HSPB8, LMNA, MFN2, MPZ, NEFL, RAB7A, TRPV4, VCP genes)Despite our efforts to ensure that data is up to date, this activity has not been validated since 01/11/2016
Last update: November 2016
Responsible of diagnostic test
Sequence analysis: entire coding region
List of diseases and genes
List of diseases tested (15)
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