Did anyone else get a copy of their Genetics test ?

My Genetic test results I was given it stated that SCA6 Allele sizes are 5-18CAG repeats in the normal range and 19-33 in Cag repeats in the affected range. I do not fully understand this. My son got tested in a different area and was told he had the gene and could suffer SCA6 later in life , but there was no mention of affected ranges of CAG repeats .

I am wondering if anyone else got the information presented the way I did , or did you just get told like my son did that you had the gene and your symptoms could be onset of Ataxia

2 Replies

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  • Hello there

    It was a long time ago now (back in 1994) but after counselling, I was genetically tested for SCA1.

    My results were 28 CAG repeats on my normal chromosome No 6 and 43 on my affected chromosome No 6.

    I do not know if it is the same for SCA6 but this is what I was told by the geneticist for SCA1.

    Because I have the same number of repeats as my Dad had, ataxia would probably affect me at the same rate as he found. Although it has not be proven there can be a tendency for more repeats to cause a greater problem and start earlier in life.

    Both my children have a 50% chance of having inherited my faulty gene and have been offered testing but decided for now that there is no point in knowing what might happen in years to come. They are in their 20s and our SCA1 does not normally start till your 40s. Personally, I needed to know but we are all different.

    If your son did want to know his number of repeats, I am sure they would tell him because they know from the test.

    I hope this makes sense. It was a long time ago and I was not showing any signs, so did not pay that much attention, so I have looked at the letters to remind me!

    All the best

    Lit

  • Thanks Lit, I was just curious, but believe that each Area health Authority work different, and wondered if it was just this that was the reason , Hope you have a good day today

    Helen

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