Orphanet: Diagnostik des Charcot Marie Tooth Syndroms Typ 2A2, B, B1, B2, C, D, E, F, H, I, J, K, L, M, N, O, P, U Gene: AARS, DNM2, DYNC1H1, GARS, GDAP1, HSPB1, HSPB8, LMNA, LRSAM1, MARS, MED25, MFN2, MPZ, NEFL, RAB7A, TRPV4
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Diagnosis of Charcot-Marie-Tooth disease type 2A2, B, B1, B2, C, D, E, F, H, I, J, K, L, M, N, O, P, U (AARS, DNM2, DYNC1H1, GARS, GDAP1, HSPB1, HSPB8, LMNA, LRSAM1, MARS, MED25, MFN2, MPZ, NEFL, RAB7A, TRPV4 genes)

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Last update: April 2017

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

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

Additional information

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.