Table 1.

Summary of Molecular Genetic Testing Used in Charcot-Marie-Tooth Neuropathy Type 4J

Gene 1Test MethodMutations Detected 2Mutation Detection Frequency by Test Method 3
FIG4Sequence analysis 4Sequence variants100%
1.

See Table A. Genes and Databases for chromosome locus and protein name.

2.

See Molecular Genetics for information on allelic variants.

3.

The ability of the test method used to detect a mutation that is present in the indicated gene

4.

Sequence analysis detects variants that are benign, likely benign, of unknown significance, likely pathogenic, or pathogenic. Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exonic or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

From: Charcot-Marie-Tooth Neuropathy Type 4J

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