23andme genetic test

[khethma]

I know the 23andme test has been discussed at some point in an earlier thread, but I thought I'd bring it up again because I've ordered it and I'm hoping that it will serve as a good first step in getting an HFI DNA test without waiting for ages to see a specialist and order tests, etc. They happen to be having a promotion on right now, and you can get the whole set of tests for US$99.00. I have no idea if it will work, but I'm going to try it and I'll post an update on my experience with it. I'm hoping the testing kit arrives in the mail this week.

If any of the confirmed HFIers are interested in trying it, it would be interesting to know whether it actually detects the right genes. I haven't had a proper medical DNA test for HFI yet and I suspect it will be months before I can get one, so I won't be able to confirm whether their HFI test is accurate, but I figured for $99.00 (plus about $50 shipping and handling), it's worth a try.

Heidi

[colormist]

Good luck, Heidi! I'm very curious about these tests. I think the results could be pretty scary to see on paper. We'd love to hear anything you'd be willing to share about the test process/results.

[khethma]

I just posted an update on my 23andme experience under the thread "23andme GENE TEST."

I had a great experience with it!

[Debra]

The current genetic test for HFI looks at only four different mutations. There are at least 36 known mutations that cause HFI and most likely dozens that have not been discovered yet. I have a form of the disease that is not characterized yet. I am likely missing a different enzyme in the fructose metabolic pathway.

If someone tests positive for two mutations on the current genetic test, they have the disease. However, many people may have a negative genetic test and even a negative liver biopsy and yet still have the disease.

More research is needed.