GHC Genetics - cheap testing

[tallpaul]

Hi,

Has anyone used GHC Genetics to get a diagnosis?  I came across them via Google:

www.ghcgenetics.com/product.php?type=fructose

Their website has limited information, but have followed up via email and they confirmed that they offer a direct-to-consumer test for 85 Euros that tests for 4 common mutations on the ALDOB gene.


They are based on Czechia but seem happy to ship internationally and seem to have good credentials on their Czech website.

I'm going to go ahead, will post the experience / results here once i get them.  

[ukbill]

Humm my anti hacking /virus protection just blew a fuse on that website link!
Not one I wish to follow. it seems there are adverts or side links from that page to known hackers and scammers.
Anyone in the UK can get diagnosed very easily by asking your doctor to refer you to a metabolic clinic (we have 25 in the UK).
They will then sort you out. it is best to do your own research 1st with all the contact details on a piece of paper so the Doctor cannot "forget" to look it up or contact the right people.

[tallpaul]

I received the sample kit yesterday (Buccal Swab) with some reasonably professional looking paperwork so they don't seem to be a complete scam! Will mail it back on Monday then should get results in 2-3 weeks.

I'm happy for my DNA to be in the public domain, so don't see any reason not to go ahead given i've already paid the money.

I'll probably wait for the results to come back before talking to my GP ... i've been living with this for 47 years, so another couple of weeks won't matter and if they do come back positive it should be a more straightforward conversation with the GP.

[ukbill]

OK unfortunately your GP is unlikely to be able to help much. this is too specialised.
OK given your history you need the following tests done..
1/. liver ultra sound scan. (it will appear fatty to an untrained eye all over because we retain far more glycogen in our livers than none HFI people do) what they need to look for are large areas of fatty deposits.
2/. bloods test for liver and kidney function. By the sound of it you have received some kidney damage and if not on a safe diet your liver will be feeling poorly and showing it in the results.
3/. CT scan of your liver area to check to damage to bile duct and to identify how bad the liver is.
4/. a totally fructose free diet for at least 6 months to allow your liver to regenerate and heal itself.
If you eat red meat (beef Lamb etc) you will not suffer from any vitamin or mineral shortages at all except for vitamin C of course. So even though this is (supposed) to be an unhealthy diet without vegetables this is absolutely very far from the truth.
Hope this helps?

[tallpaul]

I received the result back from GHC Genetics today, has come back as mutated homozygous on N334K which confirms the diagnosis of HFI.

This aligns with the 23&Me result so am pretty confident that they are legitimate (I did not mention the 23&me result to them).

So I can recommend GHC, although as per ukbill's advice, my GP was very happy to refer me to the metabolic clinic at Addenbrookes so in my case it was not really necessary.

Having said that, the process with GHC wasn't the smoothest as shipping genetic samples internationally is not entirely straightforward - ParcelForce returned the shipment to me as they incorrectly classified it as prohibited biological material (they have agreed this was an error and are refunding the postage costs), other couriers seemed unsure, I eventually went with FedEx with a creative description of the package contents and it got held up in Czech customs for over a week. Overall the process took just over 6 weeks from payment to results.

ukbill, thanks for the advice, good to know what to expect

[ukbill]

anytime

[tallpaul]

Thought it worth updating now I have been to Addenbrookes.

The team there were very supportive and interested, asking a lot of questions about my diet and history. I think there were 10 of them in the room including consultants, dieticians, nurses and administrators.

They also took blood tests and did a quick physical exam of my liver.

The main blood test results have come back with nothing too untoward, except that they identified an atypical pattern in my Transferrin Glycoforms which they say is indicative of HFI and inadequately controlled diet.

They have also analysed my food diary and estimate my fructose and sucrose intake at 1.1g and 2.6g per day which doesn't seem too bad but they did identify a few foods i need to cut out. This also came back as very low in vitamin C and low in various minerals but they had already asked my GP to prescribe Forceval multivitamins which seems like it will close the gap.

They will see me again in six months, which is apparently how long it takes to get the genetic test results back (so my private test wasn't a complete waste), and will do the ultrasound scan of my liver then.

So for now i am cutting out a few things, but will wait until I see them again before going too hard on eliminating all sources of fructose.