Table 1.

Summary of Molecular Genetic Testing Used in SCN9A-Related Inherited Erythromelalgia

Gene Symbol 1 Test MethodMutations Detected 2Mutation Detection Frequency 3, 4
Family History 5
PositiveNegative
SCN9ASequence analysisSequence variants 650%-100%~30%
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.

Because so few individuals have been tested to date, detection rates need to be considered preliminary.

5.

Mutation detection frequency varies depending on whether the family history is positive (i.e., other family members are affected) or negative (no other family members are affected) [Yang et al 2004, Dib-Hajj et al 2005, Drenth et al 2005, Michiels et al 2005, Han et al 2006, Harty et al 2006, Lee et al 2007, Takahashi et al 2007, Drenth et al 2008].

6.

Examples of mutations detected by sequence analysis may include small intragenic deletions/insertions and missense, nonsense, and splice site mutations; typically, exonic or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

From: SCN9A-Related Inherited Erythromelalgia

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