Test Oddity

I called today to get the results of the Athena Complete Myotonia Workup that the last neurologist ordered. (He originally ordered it instead of the VGKC antibodies test, but then added the VGKC to the order.)

All of the standard components that indicate myotonia were normal. However (boy, it feels good to have a "however" - it feels good to have anything resembling a clue at this point), there was one component of the test that was strange. One of my sodium channel results was odd. Evidently, there is an aberration in my DNA sequencing relating to this one sodium channel.

The neurologist who left me the message with my results (who is filling in right now for the one who ordered the tests) said that the channel in question was not known to cause problems and was not commonly tested [update 11/04/10: clearly, I misunderstood this bit; the gene, SCN4A, is sequenced because it has many variants that are known to cause problems; this variant is one whose significance is unknown], and that the clinical significance of this result is unknown. But that sounds a whole lot better to me than "clinically insignificant," which seems to be the go-to phrase for test result hiccups.

I do have to wonder why this component was even part of the test if this sodium channel is not known to cause problems and no one knows what aberrant results might mean. In other words, why test for something that means nothing? Surely it must mean something to someone.

I missed the neurologist's call by about five minutes, so I called back immediately and left a message asking him to call me back. Hasn't happened yet, so I'll post when I know more.