Alphabet Soup: Making Sense of Genetic Testing in CMT

ABSTRACT

The diagnosis of inherited neuropathies can be challenging in several ways. First, a hereditary neuropathy must be suspected. Although some family histories are clear with multiple members affected, other families require directed inquiry. Second, even when a hereditary neuropathy is clear, it can be difficult to make a genetic characterization. The field of genotyping is expanding so rapidly, it is difficult to know what tests to order. The authors share their guidelines for the diagnosis of inherited neuropathies.

KEYWORDS

Hereditary neuropathies - Charcot-Marie-Tooth neuropathies - CMT - genotyping

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