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No more free gen testing with the Periodic Paralysis Association?

I visited the homepage of the PPA and became a member. There is still written " for free gen testing with Prof. Lehmann-Horn "click here". But after I clicked, there came an other page with laboratories in de USA, and they ask for money. There's also a new laboratory that offers free testing in Gemany, but only for people living in the European Union. Switzerland ist not in the EU. So it looks like I can't get a free testing anywhere...?

What are your experiences? Who offers free gen testing for Channelopathies?

Stephany

Type of Myotonia: unknown

Country: Switzerland

Re: No more free gen testing with the Periodic Paralysis Association?

They stopped the free testing in Germany last summer I believe (when Dr. Lehmann-Horn retired). I sent an email to Neuromics to see if they will do testing outside of the EU.

Dr. Lehmann-Horn's lab was the only one I am aware of that was doing free testing. The PPA has an agreement with Fullerton Genetics in the US to do testing for SCN4A mutations right now for $500 and hopefully CLCN1 sometime this year. However it's not full sequencing, so there's a chance it could miss your mutation.

I'll let you know if I can find anything for you. Sometimes you can get in on research studies that include sequencing as part of the study.

Jan

Type of Myotonia: Thomsen's

Country: US

Re: No more free gen testing with the Periodic Paralysis Association?

Thanks a lot!

The simple testing for the most common mutations I have already done (at CeGaT, for a lot of money!). So it must be a full sequencing to detect deletions, duplications and splicing mutations in the intron.

I was once in a study for morbus pompe. They checked my pompe gen free of cost and found a new mutation, but heterozygot. So I don't have the pompe desease.

Studies are great! But I think that now noone else in the world has an interest in Myotonia.

Stephany

Type of Myotonia: unknown

Country: Switzerland

Re: No more free gen testing with the Periodic Paralysis Association?

Stephany, I saw a trial that is still recruiting in Holland. You have to have confirmed genetic testing to qualify, however I'm thinking they may be able to tell you where you might get full sequencing done for free or participate in a similar study that includes genetic testing:

NDM Study

Jan

Type of Myotonia: Thomsen's

Country: US

Re: No more free gen testing with the Periodic Paralysis Association?

My clcn1 test was $1000.

Type of Myotonia: Beckers

Country: USA