Old 11-02-2017, 07:01 PM #1 (permalink)
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Default Genetic Testing

I've asked this question before but want to see if anyone has new information. When I was going through the diagnostic process, the neuro I was seeing suggested genetic testing through the Athena Lab in the Boston area. (Think this lab has a new name now) The cost was about $35,000, so it was out of the question for me. I understand genetic testing is much cheaper now.

Previously, someone replied, "What would I test for?" The answer is, "I don't know." Here is my story. My father and grandfather both lost the use of their legs. My grandfather died when I was six; based on what I can remember, I think he may have had ALS. His diagnosis was a series of small strokes, but he never saw anyone except our small-town country doctor. He lost the use of his legs, then his voice, and then was bedridden until the end. My father, at the age of 66, collided with a train on his way to work. He suffered a serious head injury. He gradually recovered, but the lasting effects were similar to a stroke. He eventually lost the use of his legs, and his other symptoms were eerily like mine, although he did not lose his voice. He was 87 when he passed of other causes.

Several years ago, I participated in a study where I donated a skin sample. I don't recall the full name of the study. I was told by a program assistant that there was something in my blood that was interesting, and the PI wanted a sample of my son's blood. My son was in another state at the time and didn't ever provide the sample. The program assistant also told me my PLS came from the mitochondrial DNA which meant it came from my mother. That would be the opposite of my family history. My mother died of leukemia when I was three. As far as I know, no one in her family had ALS. Dementia is prevalent in her family, and there is some epilepsy.

I apologize for the length of this post; I wanted to make it clear why I'm interested in genetic testing if the cost is no longer prohibitive, and also why I don't know which specific gene mutation to be tested for.
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Old 11-02-2017, 11:16 PM #2 (permalink)
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Default Re: Genetic Testing

1) You can inquire of the program that analyzed your blood. Unless you explicitly signed away the right to know the testing results, you should be able to obtain them, though it may require persistence and certainly sending forms via e-fax if it's somewhere you can't visit.

2) You can then see a medical geneticist who can suggest if there is any indication for genetic testing. Insurance will generally pay if the geneticist documents that the test(s) could change your prognosis and/or plan of care. Cash pay tests are still beyond most people's willingness to pay.

Best,
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Old 11-03-2017, 06:29 AM #3 (permalink)
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Default Re: Genetic Testing

I agree about the geneticist. I would put a good amount of effort into trying to find one who specializes in neurogenerative diseases. They do exist but I am not sure how many. The few I know are on the East Coast. My clinic now has one and even though I know my genetic mutation I found speaking with her very enlightening

There was a webinar on the genetic testing for ALS in January. I am not sure that you would find much of it relevant but she did offer her email ( note that the email was misspelled which was eventually mentioned in the discussion. Her first name was Jennifer and I think the screen email added an extra f). You might try to email her and see if she knows someone closer to you. https://www.neals.org/for-people-wit...testing-in-als

Genetic testing is cheaper. Were you thinking of testing for the known FALS genes? As well as Athena there is Precision Genetics now maybe others
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Old 11-03-2017, 06:44 PM #4 (permalink)
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Default Re: Genetic Testing

Many thanks to you both for the replies. As there is no urgency involved, I plan to discuss genetic testing at my next ALS Clinic appointment. Knowing if I have a specific gene mutation won't change my prognosis or plan of care. When I tried to contact the program assistant who told me the PLS came from my mother's side, the email bounced back. I have no other contact information. The study was through OHSU (Oregon Health & Science University) which is where the ALS Clinic I go to is located.
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Old 11-03-2017, 07:17 PM #5 (permalink)
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Default Re: Genetic Testing

Old dog-

There's a study currently enrolling subjects, if you are interested. It's a multi-centre study- California seems to be the closest to you.

https://clinicaltrials.gov/ct2/show/...&draw=1&rank=1

~Fiona
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Old 11-20-2017, 06:31 PM #6 (permalink)
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Default Re: Genetic Testing

Thanks, Fiona. I would not be able to travel to California.

I very briefly discussed genetic testing with my doctor at last week's ALS Clinic. He ordered the test, but I was unable to go ahead with it without first checking with my insurance carrier. I was told this test checks for the most common mutation first (C9) and then goes on to less common genetic problems. The testing can cost as little as $140 or as much as $1,500. When genetic testing was first suggested to me in 2009, the cost was more than $35,000, but, I think, was not specifically for ALS.

The ALS clinic staff will let me know if any trials come up that are closer to where I live. Thanks again.

Kay
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Old 11-20-2017, 07:45 PM #7 (permalink)
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Default Re: Genetic Testing

You might want to check with Northwestern. I am not sure how strict their criteria are or if they now require testing for known genes first but they do a lot of FALS work and Dr Siddique has discovered at least 2 ( maybe more) mutations. I am pretty sure you can mail your blood ( which is not as difficult as it sounds. I have done it for different studies and they send you everything needed and will pay the lab draw fee)

This may not be an option as your family history is not clearcut but worth asking
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Old 11-27-2017, 06:24 PM #8 (permalink)
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Default Re: Genetic Testing

Thanks, Nikki. I will inquire.

Kay
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