Thalassemia Patients and Friends

Discussion Forums => Thalassemia Minor => Topic started by: mommabull on September 19, 2013, 05:32:04 PM

Title: DNA testing?
Post by: mommabull on September 19, 2013, 05:32:04 PM

I am wondering what the benefits would be of DNA testing? I have beta thal minor along with a host of other health issues. I have read some about DNA testing but do not know where to start. What test would need to be done and would this be through a pcp or ordered online? Thanks, Michelle ???

Title: Re: DNA testing?
Post by: Andy Battaglia on September 20, 2013, 02:50:07 AM

Hi Michelle,

The main purpose of a DNA test for a thal minor is diagnostic, so there wouldn't be much reason to have one done if the thal minor diagnosis is already certain.

Title: Re: DNA testing?
Post by: mommabull on September 20, 2013, 11:31:29 AM

Ok I am certain that I have it all I read about was something to do with the mutation not sure what. Thanks, Michelle

Title: Re: DNA testing?
Post by: Andy Battaglia on September 20, 2013, 11:34:27 PM

Knowing the specific mutation might give some insight its effects, but currently the data base is fairly weak, especially concerning the effects on minors. If your insurance will pay for it, it may have some reference value in the future, but if you have to pay for it, there's no urgency in getting it done.

Title: Re: DNA testing?
Post by: jay on September 21, 2013, 03:05:49 AM

mutation analysis is old now! (if it is only restricted to thal without genome sequencing). Biotechnology is growing very very fast.
i don't know when rest of the word except US and EU will get access to affordable genomic diagnosis.
mommabull, my guess what you are looking for is 23andme.com  go on the website create profile and check for 'health review' section.
i don't know where do you live but this service is primarily for US and EU. China may have similar service within borders.
We have nonsense homeopathy nearly all over the world, but not many genetic counselors and biotechnologist.
Right now i have couple of dozens kits with me of which i am expecting to get results in 2 months. I hope one day i will get a request to connect on 23andme.

Title: Re: DNA testing?
Post by: mommabull on October 09, 2013, 01:39:55 PM

Thanks Andy.
Jay I am I the US I will check out the site Thanks!

Title: Re: DNA testing?
Post by: TonyF on February 20, 2021, 10:24:43 PM

Wow old thread!

Has anyone done the 23andme or similar genetic tests and run them through any of the various sites that given you insights and (some) potential action items?
I suspect there's not much Thal specific, but that would be interesting.

Title: Re: DNA testing?
Post by: Andy Battaglia on March 14, 2021, 09:30:47 PM

I don't know if they've improved, but 23andme typically could tell one was thal minor, but it had trouble identifying the specific mutations. Personally, I have concerns about these companies selling the data they collect.