HELP! Question about diagnosis

[jen1127]

Hi

I live in Texas and have been sick a really long time and wanted to get tested for HFI. Can someone tell me what type of doctor I need to see in order to get tested better yet the name of one. My doctor wants to send me to an allergist but they said they don't test for that. I have also called several other doctors and everyone tells me they aren't familiar with that. Thanks

[charlie]

Hi Jen,

we live in England so can't help there but many doctors have never come across HFI so that is not surprising the ones you have seen. Boston University do the gene test and Baylor by the sounds of things, people seem to be using Dr Tolan's lab alot on here. I'll leave it to those nearer you geographically to help with that.

But google a few links about testing and maybe copy it out and pass on to your doctors which may give them more ideas. this one is good:

faculty.ksu.edu.sa/72327/Documents/Inborn%20error%20of%20metabolism%20fructose.pdf

[colormist]

Since you are in Texas, this is probably your best bet:
www.bcm.edu/geneticlabs/

I was tested in Michigan and asked my family physician for a referral to a geneticist. My geneticist ordered a blood sample and had it sent off to Baylor Genetics Lab in Houston.

If you're not too far from Houston, you might ask for a referral to that department. They definitely have the most experience with HFI in the southern states.

Your insurance is probably not going to humor you with a test for HFI (as they like to pay for hundreds of other tests to rule out the more common possibilities). The problem is that the other tests are more dangerous for HFI. If you're financially stable, you could pay for this test out-of-pocket. If you're not financially stable, express this to your geneticist so they can help you figure out a way to afford the testing.

Also note that the genetic test is not 100% proof positive of HFI. So you could get a negative test and still have the condition.

[colormist]

WOW! Curiosity got the best of me and I researched HFI with that search box on the previous page. www.bcm.edu/geneticlabs/test_detail.cfm?testcode=3125&show=1

They actually had pricing on the tests (I don't believe I've ever seen that before). Out of pocket, it costs $1,272. That's just to analyze the blood.

[tummyache]

Dr. Tolan's Lab = $450 [also will test other family members free, if your test is positive - will not accept insurance]
Baylor Houston = $1272

Big difference! Not sure if Baylor's test is any better than Tolan's? But, maybe insurance pays for Baylor...something to check on.

[jen1127]

Thanks to everyone for all of the quick responses. This has been a lot of help!

[flanagan]

I had the genetic testing from University Children's Genetics Laboratory in California, the cost was $200 for the analysis. I think they might be the cheapest cost wise, and my endocrinologist said that they have a similar accuracy rate to Boston, aprox. 80%. Turn around time was two weeks, they do testing on the spot, not in batches. They definitely don't take insurance. They expect a personal check to be tucked in neatly next to the blood sample when it arrives,... I'm not even kidding. That being said, the "all in the family" deal from Boston Univ. seems great.

As to the original posters question, I agree with most on here, if you can afford the testing, then push a doctor to arrange it. Try an endocrinologist, if you can't get to a decent geneticist. If your docs won't do it,... get new docs.

[Holistic]

Hello, Everyone, I am new on this site, and believe that I have Hereditary Fructose Intolerance after suffering from a lot of digestive problems since I was an infant. I wanted to share with all of you that there is a genetic genealogy company called, 23 and Me, which tests for four of the most common mutations for HFI. The price is $99.00, and this includes the HFI genetic test, along with testing for many other genetic disorders, and also your recent & ancient ancestral heritage! I have ordered the cheek swab kit from them, and will be doing this genetic screening test very soon.

[ukbill]

Holistic.. welcome to the site

[Holistic]

Thank you! This is a great site with so much information to research & learn from. I believe that anyone who is suffering from digestive issues should be screened for HFI and FM. It is a subject that needs to be brought into the mainstream media so that others will be helped, and medical professionals will become enlightened on this subject. I am looking forward to having the genetic test for HFI done by 23 & Me. If it is negative, then I will find a doctor who will order the hydrogen breath test for Fructose Malabsorption.

[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.

[denverjay]

I did the 23 and Me test. I came back positive for HFI, although they did not tell me what mutation I had, just one of the four they tested for.

[colormist]

Thanks for the report, denverjay. I think you're the first person to post a positive result from the 23&me test. I was beginning to worry they didn't have enough of the mutations identified.

[tummyache]

Yes, it's nice to hear the positive results from 23andme! Not long ago it cost $299, but they recently lowered it to $99. That's not so expensive! I sent my saliva sample in 4 weeks ago and am awaiting results. Dr. Tolan and 23andme test for the same 4 deviations in the genetic code, at least it appears that way to me. The one drawback to 23andme is if you really don't want to know if you have the genetic make up for other 200+ diseases they also screen you for. But, I am curious and also doing it for my kids as much as for myself.