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Diagnosis of Charcot-Marie-Tooth disease type 2A1, 2A2, B, B1, B2, C, D, E, F, H, I, J, K, L, M, N, S (AARS, DNM2, DYNC1H1, GARS, GDAP1, HSPB1, HSPB8, IGHMBP2, KIF1B, LMNA, MED25, MFN2, MPZ, NEFL, RAB7A, TRPV4 genes)Despite our efforts to ensure that data is up to date, this activity has not been validated since 30/11/2016
Last update: November 2016
Responsible of diagnostic test
Sequence analysis: entire coding region
List of diseases and genes
List of diseases tested (17)
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