Hi Everyone,
Warren ( my partner) had his blood taken today in Ipswich to be sent off for testing at the Genetics Lab in Cambridge. The neurologist said it would take 2 months. We wondered why it takes so long. Any advice or experience of of length of time for these type of blood results would be very much appreciated. x
I found this website. Seemed pretty good for explaining why genetic testing takes so long.
Hi Kay,
Thanks for the link. I can't seem to get it working at the minute but i'll try again in a while....or google it myself. So much research to do! =)
I couldn’t get on with this link either, a problem with the server.
But, I googled 'why does it take so long for genetic testing?'
The above site came up and I was able to log on. For that particular condition,
a wait of 1 week to 3mths was given.
Then I logged onto ghr.nlm.nih.gov
This took me to genetics home reference
Reading down the page I next followed the link to erogentest.org and clicked onto
fact sheets about genetic testing laboratories.
Scroll down, it comes to a section on why it takes so long.
I hope this helps :-)xB
Hi, it took about 2 1/2 months to obtain my results because they run different test to show results if one is negative (or that is what I was told). They source to see if you have a common ataxia first, then move on from there.
Hope that helps.
Thankyou Alle this is helpful =)
Because I’m Idiopathic I donated DNA, that was in 2011. At the time I didn’t match any
of the types. Late last year a geneticist told me they were close to finding a match but
I’ve heard nothing since then.
My MRI confirmed Cerebellar Atrophy, so at some point a type may be discovered.
:-)xB
Beryl
I love the fact you got to donate, when I asked them about doing that, they turned me down. Crazy huh? You would think they would be eager to have people who want to help?
Beryl Park said:
Because I'm Idiopathic I donated DNA, that was in 2011. At the time I didn't match any
of the types. Late last year a geneticist told me they were close to finding a match but
I've heard nothing since then.
My MRI confirmed Cerebellar Atrophy, so at some point a type may be discovered.
:-)xB
My daughters gene testing results came in one week here in Florida.
sadly its positive of SCA3
regards
sorry to hear this news Sunny. how old is your daughter? we are still awaiting Warrens results and his physical mobility seems to be rapidly deteriorating all of a sudden in the last week.
warm regards
Hi Beryl,
Is the geneticist still being funded for their research...? Just a thought, although at the same time, if ataxia is considered a rare illness, it will take time. It must be slightly frustrating x
Best Wishes and Hoping the geneticist calls you soon x
Beryl Park said:
Because I'm Idiopathic I donated DNA, that was in 2011. At the time I didn't match any
of the types. Late last year a geneticist told me they were close to finding a match but
I've heard nothing since then.
My MRI confirmed Cerebellar Atrophy, so at some point a type may be discovered.
:-)xB
tc,
she is 18. She sometimes have difficulty in walking. My father had @ 76, My brother cant walk @ 46 , I can feel I have but no major symtoms. Brother son has signs @ 28 . So by generations its catching at young age I feel.
Re the funding and research. That’s a good point, she never discussed it. I volunteer at
Newcastle Ataxia Centre, there’s a clinic next week, I intend to ask for an update re my DNA.
At first I did get very frustrated, it was important that I knew the type. But, the urgency
has passed. I’ve been lucky enough to come to terms with my condition and my family have
finally accepted that this is how I am now, we go with the flow. But it seems to be incredibly difficult to predict an exact course for any of the types.
xB
At the time, funding may have been available for research into idiopathic Ataxia. Actually, I feel sure I’ve read something, somewhere, re a register for people with Ataxia donating DNA.
sunny, sorry to hear so many of your family are afflicted. my partner warren is 44, his mum has frontal atrophy at 68, we think his grandmother from his dads side had cerebellar atrophy from 40ish. we are awaiting genetic blood test results in about 2 months to find out if it is hereditary. It's such a strange affliction in that it affects people in so many different ways. We have 3 kids...1 is mine, 1 is his and 1 is ours. dreading the results from the blood test.
sunny8088 said:
tc,
she is 18. She sometimes have difficulty in walking. My father had @ 76, My brother cant walk @ 46 , I can feel I have but no major symtoms. Brother son has signs @ 28 . So by generations its catching at young age I feel.
I wish /pray the test come Negative
Hi Beryl, Not sure why but it was the first thing that popped into my head was funding. Like I said before I really hope you get some news soon. I look forward to the day we are able to come to terms with all of this...I sense it being a while off yet as we wait for the gene results and have 3 children. we are learning to take each day as it comes with his conditions and so it will continue i guess. xx
good luck next week at the clinic Beryl xx
Beryl Park said:
Re the funding and research. That's a good point, she never discussed it. I volunteer at
Newcastle Ataxia Centre, there's a clinic next week, I intend to ask for an update re my DNA.
At first I did get very frustrated, it was important that I knew the type. But, the urgency
has passed. I've been lucky enough to come to terms with my condition and my family have
finally accepted that this is how I am now, we go with the flow. But it seems to be incredibly difficult to predict an exact course for any of the types.
:-) xB
thankou Sunny. me too....! can't seem to get any peace of mind,
sunny8088 said:
I wish /pray the test come Negative
Hi there.
No Beryl, I’m not dead just been very quiet, had a terrible year so far.
I had genetic testing at Guys in 2013 and I was very surprised as I got my diagnosis in about 10 days. Mind you, the geneticist said that the gene was so prevalent there was no question.
Hopefully yours will be better news. Xx
Hi Beverley,
Sorry your year is not going so good....I hope for better days for you.
Warrens bloods are being tested at Addenbrookes in Cambridge. I'm not sure whether they are going to test for specific dystonia as well as the atrophy or whether these will be seperate...!?? Maybe that would answer the question of why they have to take so long. Looks like i need to make some more enquiries...
....and yes, I'm also hoping for better news but really not holding my breath so too speak. Trying to mentally prepare myself as much as is possible. xxx