Whole Exome Sequencing

I'm going for whole exome sequencing (WES). That's when they look at all genes that codes for a protein, and if they find a variant try to determine if that variant is causing or contributing to your condition or not. Have any of you with sporadic ataxia tried this and are any of you familiar with Ambry Genetics Laboratory in California

Never heard of this, what city are they in. Jerry

all genetic labs do this sequencing. Instead of looking for a specific gene that causes ataxia, they look at every gene that codes for a protein to see if that gene is normal and is coding for that protein correctly. If they find that there is an error in a particular gene coding for a protein, they then have to determine if that error is causing your symptoms or if it makes no difference. I hope I explained it clearly. If not, try googling it. It's pretty new. UCLA does it and Dr. Brent Fogel's research lab at UCLA is involved with it.

By doing this they can learn whether a variant (error) in the genetic coding of a protein could be causing your symptoms. They say its much more economical then looking for specific genes, already known, to cause the disease. I hope that is helpful. Otherwise, try googling.


You can start with this.

gelu65 said:

Never heard of this, what city are they in. Jerry

Did you find out anything? I'm trying to do whole exome sequencing but everything is too expensive ($9,000) and my insurance won't cover it.

Sorry you are having so much trouble getting your insurance to pay. $9000 seems pretty expensive. I've found around $5000 to be the average cost.

For me they found a protein not coding for CoQ10 enzyme, but that's recessive.so they have to test to see if the other gene is working correctly to produce the enzyme. It's called deletion/duplication test. I started to take CoQ10 by mouth just in case, but so far my symptoms are the same.

God luck on your quest for exome sequencing Try research. That would be free. If you have any other questions feel free to contact me.