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-   Peripheral Neuropathy (https://www.neurotalk.org/peripheral-neuropathy/)
-   -   Familial Transthyretin Amyloidosis (https://www.neurotalk.org/peripheral-neuropathy/231747-familial-transthyretin-amyloidosis.html)

DavidHC 02-16-2016 06:54 PM
Thank you, Kiwi. I appreciate your help here. It appears that's precisely what we discussed as the gold standard: complete DNA sequencing. I'll likely not know the results for another few months, but let's hope I show no mutations. Amyloidosis is not something one wants to have.

I appreciate this other bit of info too. What tests would one get for that? I suppose in the end, I should try to get a fat pad biopsy, so as to rule out that I have Amyloidosis of any form.


Quote:
Originally Posted by kiwi33 (Post 1199632)
DavidHC, Athena have a good reputation.

What they propose doing is the "gold standard" approach.

PCR will amplify the DNA which contains your TTR genes and DNA sequencing will then show if you have any mutations in your maternal or paternal TTR genes and, if so, what they are.

This won't say anything about possible mutations in other amyloid-forming proteins which have been linked to PN.

kiwi33 02-17-2016 01:00 AM
A fat pad biopsy could help.

It would involve:

(1) Staining a biopsy sample with a dye which is specific for amyloid.

(2) If there is amyloid there, stain a series of biopsy samples with antibodies specific for the various proteins which can lead to systemic amyloidosis.

(3) Depending on what that shows, it would then be possible to do DNA sequencing (same as you have arranged for TTR) to see if there are any mutations in the genes for those proteins.

There is a more technical explanation of this here; http://www.cytojournal.com/article.a...ulast=Halloush.

Cliffman 02-17-2016 06:54 AM
Quote:
Originally Posted by DavidHC (Post 1197606)
Hi Cliffman,

Thank you for this. Much appreciated. I'm waiting to hear from him about where he wants to do the testing. Once I know that, I can proceed. If it's a quality place with thorough testing, then we'll just proceed. This is a good resource. I also appreciate the article, which is a good look at the subject as a whole.

I'll speak to my neuro when he does call. How about you: if you don't have to pay for it/if insurance covers it, why not do it? I think non familial forms are possible in my case, but I don't know.

Be well!
Dave
Hi David,

In my instance the insurance co. won't pay for it. They charge $1770.00 for the test at Athena or depending on one's income from the prior year it can be less. Given the cost I will pass.

I'm praying your results are negative if you decide to proceed.

Cliffman :)

DavidHC 02-18-2016 07:10 PM
Thank you, Kiwi. A question: do you know if the protocol is to do DNA testing of the sample in order to see what type it is? I can ask the physician too, but thought I'd throw that out there in case you know off the top of your head.

Regarding the link you posted, see the "Discussion" here for the limitations of the aspiration method: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2580046/

If I can manage to get this, I'll insist on the larger sample, not the simple and clearly unhelpful aspiration.


Quote:
Originally Posted by kiwi33 (Post 1199701)
A fat pad biopsy could help.

It would involve:

(1) Staining a biopsy sample with a dye which is specific for amyloid.

(2) If there is amyloid there, stain a series of biopsy samples with antibodies specific for the various proteins which can lead to systemic amyloidosis.

(3) Depending on what that shows, it would then be possible to do DNA sequencing (same as you have arranged for TTR) to see if there are any mutations in the genes for those proteins.

There is a more technical explanation of this here; http://www.cytojournal.com/article.a...ulast=Halloush.

DavidHC 02-18-2016 07:14 PM
Wow, that's pricey! Sorry to hear that you can't get the test. But I wouldn't either, if that were the price. No way. Mine will be covered by the public health care system here, so I'm glad. But I sincerely hope it comes back negative and I really do think that will be the case. I appreciate the kind thought and good vibes sent my way. :)



Quote:
Originally Posted by Cliffman (Post 1199716)
Hi David,

In my instance the insurance co. won't pay for it. They charge $1770.00 for the test at Athena or depending on one's income from the prior year it can be less. Given the cost I will pass.

I'm praying your results are negative if you decide to proceed.

Cliffman :)

kiwi33 02-19-2016 01:11 AM
DavidHC, getting a decent-sized sample, per your link, is a good plan.

If there is amyloid there then staining samples of it with antibodies specific for the various amyloid-forming proteins will show which protein(s) are involved. However this will not show if the proteins are normal (wild-type) or if they are mutants - this is where DNA sequencing comes in.

DavidHC 02-20-2016 12:49 PM
Interesting. Thanks. And this would be relevant clinically/for treatment? Clinically, amyloidosis is treated according to type, but I'm not sure if that means needing to go ahead with the DNA sequencing.

Quote:
Originally Posted by kiwi33 (Post 1200160)
DavidHC, getting a decent-sized sample, per your link, is a good plan.

If there is amyloid there then staining samples of it with antibodies specific for the various amyloid-forming proteins will show which protein(s) are involved. However this will not show if the proteins are normal (wild-type) or if they are mutants - this is where DNA sequencing comes in.


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