negative DNA test results informatiotn

[Guest guest]

Dear ers,

I was thinking about all of you that have had negative DNA test

results, so contacted Amar at Athena with a few questions. Below is

his response to me, below that are the questions I asked him. ~ GG

---------------------------------

Gretchen: Very interesting questions.

You are correct. We test for the most common causes of CMT, covering

approx. 80% of patients. The other 20% are likely to have any of the

other gene mutations we don't yet test for, or mutation in some gene

that has not been linked to CMT as of yet.

Another, somewhat unlikely but important consideration is that they

may have some other disease that looks like CMT at the time they

visited their doctor. This is a more complicated situation that is

usually resolved over time as patients continue to visit their doctor

and the symptoms start to diverge from the CMT symptoms or if the

patient sees a specialist and end up with a different diagnosis.

Helps?

Amar

negative CMT tests questions

Hi Amar,

Lately, on , there have been a number of people who have

received " negative " CMT results on their DNA tests. Of course they

are confused. And of course they want answers. As I understand, the

DNA tests are only available for the known genetic mutations of CMT,

right? So, someone could in fact have CMT, just no test for it is

known yet, like the new type DI-CMT 2C.

Also, is this true, that the DNA testing for CMT can detect the

genetic mutations in about 70-80% of cases? What happens to the other

20%? What can I tell these people? Should they get re-tested? And do

you think the CMT genes are continuing to mutate, thereby possibly

causing new types, or combinations of types?

Regards,

Gretchen at