Blood test

[chuckles333]

Do they do blood test to find CMT? I'm not sure they done electrical tests on me did the use blood test as well? I'm curious

[John1945]

Hello to chuckles333 ....... Yes ! they certainly do blood tests on patients that their NHS Neurologist suspects may have Cmt, and including what type? Most blood samples are sent to a "Specialist" University Hospital Laboratory for confirmation: Takes 6/7 weeks to obtain results, and cost your NHS Health Trust around £10,000: You have already had a Nerve Conduction Test, which indicates the actual 'reduced' speed (velocity) that you brain sends, and also receives from your furthest away muscle groups, hands, feet and lower limbs etc, via your damaged sensory, and motor peripheral nerves:

[Stetson28 in reply to John1945]

Hello,

Do you happen to know what the name of the test is and/or what specifically it is testing? Ie. genes, proteins, etc.? Thank you

[MicheleJ5 in reply to Stetson28]

Yes it is a genetics test. It can take months to get results back because they do so many types of testing for it. They took 6 viles of blood and did 14 genetics tests.

[seasider18 in reply to John1945]

Some of my samples were sent for genetic testing as it is a hereditary condition and took about three months to come back

[John1945 in reply to seasider18]

Hello to Seasider.......

Well ? are you going to tell us Health Unlocked readers @

What was your diagnosis/result ? John (Glasgow)......

[seasider18]

It did not confirm the diagnosis of CMT type 1.

[REGreen]

Dear Chuckles,

The blood test is for genetic mutations. If you carry a known mutation which causes CMT it can confirm the diagnosis and tell your neurologist which type of CMT you have. There are getting on for 100 mutations known and more are being found all the time, but you may still have one new to science! The blood test gives the neurologist more information about your typ of CMT and builds up the picture given by the nerve conduction tets.

Good luck,

RE Green

[Jen1970]

Hi

I was diognosed with cmt type 1 last month and had blood taken and electrical test done but I have to see my consultant on the 1st March again . So I think by electrical test and blood test they will be able to diagnose you . Hope this helps

X

[chuckles333 in reply to Jen1970]

I had tests in 2015 PMP22 Type 1A going back to Neurology in April to find out how things have worsen as i feel i have some underline things with my nerve cells, hoping for some tests. I have good/bad days bad i am almost helpless with my legs/feet/hands, Never mind just make best as possible.

[Amanita]

Hi, Chuckles,

My genetic test (from a blood sample) took 9 months. Maybe the specialist lab does them in batches and waits for more suspected CMT cases to turn up, or perhaps they just sometimes have a backlog. I think my neurologist mentioned £2000-3000, so possibly as they have got better/ more efficient at it, the cost has come down since they tested John1945. Maybe if they don't know your family history and it isn't one of the commoner types they have to test for more genes and the cost goes up. If it is a yet-unknown gene that's responsible, your CMT type may not get diagnosed at all (see RE Green's answer).

As I understand it the electrical test can determine two things: whether it is the speed or the power of the nerve signals that is affected. Your motor nerves transmit instructions to your muscles and your sensory nerves tell you about what you can feel (temperature, texture etc). The further a message/signal has to travel the more it is compromised.

If you regard your nerves as electric wires, then reduced signal speed indicates damage to -or faults in - the myelin sheath ("insulation") around your nerve fibres (axons), while reduced signal strength indicates damage to the axon ("electric wire") itself. Faulty myelin is characteristic of Type 1 and damaged axons are characteristic of Type 2. However, many years of living with faulty myelin doesn't do the axons any good, so when I had my nerve conduction tests the specialist found both speed and amplitude very difficult to measure at all, but decided on balance the fault was probably primarily with the myelin. At least I didn't feel anything during the test- some people find it very uncomfortable. My nerve conduction result was eventually confirmed by the genetic test result - CMT1A.

[Schmoozer]

I have Hnpp with most CMT symptoms (High Arches, Major feet/hand burning. Fatigue) my nerve conduction test identified severe damage and we had blood genetic testing on Nhs after son was diagnosed. We had to wait 6 weeks for result as were told it needs take this amount of time