genetic testing

  1. kellykago

    ALS2 Gene

    I had genetic testing and showed a variant on ALS2 gene. My neurologist doesn't think this variant is playing a role in my disease, since it is usually shown in juvenile als. Does anyone know anything about this gene?
  2. J

    Genetic testing

    My husband Jon just received his confirmatory bulbar ALS diagnosis at the University of Rochester today. He has 3 relatives on his fathers side (2 female first cousins of his father and a child of one of the cousins) who had ALS. My mother in law does not have specific details, but knows they...
  3. NothingButLove

    Acquiring genetic testing results from a deceased family member

    Let's say you had a first cousin who passed away from ALS in 2011. Now you have ALS and you don't know if your cousin had genetic testing done. None of your family members know if your first cousin had genetic testing done. Here's my questions: Could you find out if she had genetic testing...
  4. kellykago

    Definite Diagnosis

    I received my official diagnosis of ALS on 12/16/16. I knew in my mind that I had it, but was continuing to hope and pray for an alternate diagnosis. I've had some minor progression in my speech articulation and some vocal quality (raspy) changes in addition to EMG findings on my tongue and...
  5. J

    Resources for genetic testing

    Hello all, My name is Josh. And there's familial a lesson my family. My mom is diagnosed with it. My grandmother died from it. My great grandfather died from it. And my great great grandfather died from it though on his birth certificate it says creeping paralysis. My mom also has a cousin that...
  6. C

    Hi

    I lost my Dad in 1989 to ALS. To date there have been 22 or more in our family to battle this disease. Recently I've had a cousin diagnosed. It's been 28 years and now it's back. I was 17 when I lost my Dad. My cousins dad passed 6 weeks after my Dad. So many emotions, so many memories that...
  7. kellykago

    Diagosed with Possible ALS Yesterday

    I've been experiencing slurred speech for about a year. In Mar I saw a neurologist and in April I had a speech eval and emg that were normal. In July my neuro saw tongue fasciculation and ordered genetic testing, which showed variant on ALS2 gene. In august I repeated the speech and was...
  8. kellykago

    Waiting for a Diagnosis

    My name is Kelly and I am 47 years old. My father passed away from bulbar onset ALS in February 2012, after a 4 month battle. About a year ago, I began noticing slight slurring of my words. It wasn't all the time, so I dismissed it. About Jan or Feb of 2016 I began noticing that my...
  9. M

    Newly diagnosed

    Hi everyone. I wanted to introduce myself to the forum.. My name is Melissa. I posted a couple months back, or so, in a different section asking "Is This ALS?". Unfortunately for me, my symptoms are progressing in my right limb, and now have noticeable fatigue in my neck and upper back. Typing...
  10. T

    Genetic Testing

    I have a question. Where can I get genetic test for my ALS? I asked my neurologist and he referred me to ALS clinic.
Back
Top