Orphanet: Diagnosis of Axonal Charcot Marie Tooth Disease type 2A2, 2B, 2B1, 2D, 2E, 2F, 2I, 2J, 2K, 2L, 2M and 2P MFN2, RAB7A, LMNA, GARS, NEFL, HSPB1, MPZ, GDAP1, HSPB8, DNM2 and LRSAM1 gene
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Diagnosis of Axonal Charcot-Marie-Tooth Disease type 2A2, 2B, 2B1, 2D, 2E, 2F, 2I, 2J, 2K, 2L, 2M and 2P (MFN2, RAB7A, LMNA, GARS, NEFL, HSPB1, MPZ, GDAP1, HSPB8, DNM2 and LRSAM1 gene)

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Last update: November 2018

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Targeted mutation analysis
MLPA based techniques
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Sequence analysis: entire coding region
Sanger sequencing

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.