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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies

Figure 1

Algorithm for genetic testing of patients with demyelinating neuropathy. Analysis should always start with testing for PMP22 duplication. If negative, a panel containing genes associated with CMT1 should be tested if technical recourses and expertise for Next Generation Sequencing (NGS) is available, otherwise targeted gene analysis as depicted on the right is the next step. When no pathogenic mutation is identified, Whole Exome Sequencing should be considered in familial cases only.

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