In theory, I should hear back within a couple of months. It could come back positive, negative, or inconclusive. If it comes back positive, then it will be diagnostic of Malattia Leventinese.
If it comes back negative, it's not so simple. False negatives do occur, and it also could mean that I don't have an increased risk of developing the disease, but does not necessarily mean that it is not diagnostically Malattia Leventinese.
An inconclusive result may mean that there is a mutation on that particular gene, but of unknown significance - meaning they could find some genetic abnormality that reveals no known or documented diagnostic information.
The most helpful result would be a positive. It would offer the most clear-cut and relevant information, leaving no room for second-guessing. This would also mean that I could get on a patient registry for this particular disease, which could help keep up to date with current treatments and even clinical trials.
A negative result would mean that it could be Malattia Leventinese, but that it might not be, and there is no real way of knowing for sure unless we do more expensive genome sequencing that *might* point to a more definitive answer.
An inconclusive result would be the most frustrating. It would say - hey, you're abnormal, but we have no idea why or what it means.
So stay tuned for the results of that test. It was sent away today, so I would expect that I should have results by August...?
Wouldn't it be great to have a solid answer? For once....
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