GAN - gene sequencing / mutation analysis

[Magaen Bates]

Hi everyone.

It is very important that every GAN patient have gene sequencing / mutation analysis done.

There are two doctors that perform this, Dr. Flanigan in Utah, USA and Dr. Houldon in London, England.

This is a blood test that can be drawn by your local care provider and sent to their labs. Each of the physicians can send the instructions for the process of drawing the blood (what color vial, how much, packing, shipping, etc.) This can take some time, up to 12 weeks.

We need to be sure that we each have this done, as it tells researchers about the particular mutation.

Please contact me on the forum or by email at ([e-mail]) to let me know if you have had this done by these doctors or someone else. If not, please contact me so that we can see about getting this done.

Thanks so much everyone. Magaen

[Renee Spears]

I haven't had it done. How do we get the instruction?

[Magaen Bates]

Please contact Dr. Kevin Flanigan's office. He has agreed to do the GAN testing for everyone. He will get with you and let you know what your primary care provider needs to do. It is a blood test.

Email: [e-mail]
Phone: [phone]

In the subject line of the email - Please put: GAN mutation analysis

[Gigi]

Hello Magaen,

Our son Ethan was very recently diagnosed with GAN by the Mayo Clinic in Rochester, MN. They will be performing the gene sequencing I think. This is all very overwhelming for us. Is there any questions that you can recommend I ask the folks at Mayo? Thank you Gigi