Question about genetic testing

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Distinguished member
Aug 15, 2022
Someone told me her father died of ALS. Then she said that if she wanted to know if she has inherited the potential to develop ALS, she would have to be tested annually.

I had genetic counseling and then a cheek swab (waiting on results). If it shows a genetic cause, then the counselor, my spouse and I will have a conversation about whether to offer testing to our older son (home-made -- the younger one is adopted). The counselor didn't say anything about annual testing so I'm confused.
If she meant she would need genetic testing repeatedly this is untrue. There are very rare FALS mutations still being discovered so I suppose one might test periodically for the new ones. If this person has no other affected relatives I think gene testing is a little on the anxious side to begin with. To repeat for these ultrarare additions if they are not FALS would in my opinion be weird

should you have a mutation if your biological son is an adult there are many issues round genetic testing and the choice needs to be his but that is a theoretical and the odds are in your favor if you have no other relatives

there really is no recommendation to continue to test PALS for these very rare new mutations unless they are in the 25-30 of clear FALS with no identifiable mutation which is a very difficult place for the family- it was my family until my sister tested for the recently discovered c9.
I requested testing because my mother had several symptoms in common with me, and I just want to make sure the dx wasn't missed. She couldn't do stairs -- until she moved, she would go up and down by sitting on the stair and using her arms to go up or down a level. Also hand weakness. I think it's a long shot but I would really like to know. Her cause of death was lung tumor complicated by heart problems.
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