Re: test for CMT

[Guest guest]

I'm going in for my yearly check up next week and I want to ask my doctor to

send me for the test for CMT. What should I tell her I want? What's the name

of the test?

Shirle

[Guest guest]

Shirlee,

There's different ones, if you know you have CMT 1A in your family,

then that's the one to test you for. (Dominant) Otherwise, ask for the

Complete CMT Evaluation, #390.

These are the tests listed under the 'Peripheral Neuropathy' category

at the lab, Athena Diagnostics

http://www.athenadiagnostics.com/index.asp Depending on the results of

your EMG/NCV or other neurological tests, and family history, or no

history, your doctor should be able to discern which test group is the

one for you. I am not certain if the Complete CMT evaluation includes a

test for HNPP. Maybe Ed will jump in and let us know.

Peripheral Neuropathy

Motor Neuropathy Profile-Complete, #274

SensoriMotor Neuropathy Profile-Complete, #275

Sensory Neuropathy Profile-xp, #263

Complete Dejerine-Sottas Neuropathy Evaluation, #286

Complete CMT Evaluation, #390

Dominant CMT Evaluation, #297

~ Gretchen

[Guest guest]

Hello All,

Jump in it is!

The test for HNPP is the same as for CMT1A as it occurs at the same

gene location, PMP22. For HNPP it indicates a missing allel on one

side or the other. For CMT1A it indicates two or more allels on one

side or the other. I don't believe I have seen a distinction or

prevalance of two, three, four etc. allels in CMT1A although the

possibility would seem reasonable. --- Gretchen?

EdM from NH

Gretchen - I couldn't type in a message on Rich Text Editor. Help.

>

> Shirlee,

>

> There's different ones, if you know you have CMT 1A in your family,

> then that's the one to test you for. (Dominant) Otherwise, ask for

the

> Complete CMT Evaluation, #390.

>

> These are the tests listed under the 'Peripheral Neuropathy'

category

> at the lab, Athena Diagnostics

> http://www.athenadiagnostics.com/index.asp Depending on the

results of

> your EMG/NCV or other neurological tests, and family history, or no

> history, your doctor should be able to discern which test group is

the

> one for you. I am not certain if the Complete CMT evaluation

includes a

> test for HNPP. Maybe Ed will jump in and let us know.

>

> Peripheral Neuropathy

>

> Motor Neuropathy Profile-Complete, #274

> SensoriMotor Neuropathy Profile-Complete, #275

> Sensory Neuropathy Profile-xp, #263

> Complete Dejerine-Sottas Neuropathy Evaluation, #286

> Complete CMT Evaluation, #390

> Dominant CMT Evaluation, #297

>

> ~ Gretchen

>

[Guest guest]

Gretchen wrote: I am not certain if the Complete CMT evaluation

includes a test for HNPP. Maybe Ed will jump in and let us know.

Gretchen, I'm not Ed, but I'll jump in and say that yes, the genetic

test for CMT Type 1A would pick up HNPP. For Type 1A, they check

chromosome 17 and look for the PMP22 gene. Duplicate copies of this

gene is CMT Type 1A and absence is of this gene is HNPP.

Helen