Finally Diagnosed

[Alvin2]

Was there genetic testing involved in making the diagnosis?

 

[Swim15]

Was there genetic testing involved in making the diagnosis?

For mine, no. I’m negative for the most common Wilson’s genes

 

[Alvin2]

For mine, no. I’m negative for the most common Wilson’s genes

So you had genetic testing done and it came back negative?

 

[Swim15]

So you had genetic testing done and it came back negative?

Correct. However last Ive read and what my hepatologist told me as well is that genetic testing only has around 50% of mutations logged because there are so many gene variations that cause Wilson’s (300-500 is the figure Ive seen typically).

UpToDate lists genetic testing and liver biopsy’s as equivalent methods of evaluation and it’s really not the case the more Ive looked into it.

That said, don’t take liver biopsy lightly. Ive had a lot of lingering problems because I believe they hit a nerve when they did it

 

[Alvin2]

Correct. However last Ive read and what my hepatologist told me as well is that genetic testing only has around 50% of mutations logged because there are so many gene variations that cause Wilson’s (300-500 is the figure Ive seen typically).

Yikes, this is good to know.

UpToDate lists genetic testing and liver biopsy’s as equivalent methods of evaluation and it’s really not the case the more Ive looked into it.

Yeah, medicine has a long way to go

That said, don’t take liver biopsy lightly. Ive had a lot of lingering problems because I believe they hit a nerve when they did it

I'm sorry to hear about the complications

 

[Swim15]

So you had genetic testing done and it came back negative?

Correct