Genetic testing help, I’m so confused!

[CarolJones342]

Hi all, I hope I’m posting this in the right place, apologies if not!

I’ll cut a very long story short here, my 8yo dd saw her paediatrician today and has been referred for genetic testing but I’m a bit confused. They have a specific condition in mind but will they just test for the mutations linked to that condition, or will it be an overall assessment (dunno if that’s the right word, sorry) of her genetics? He said he thinks it’s this particular condition, but the nurse said after about ruling other things out. I know I should have asked the doctor but it was so overwhelming to finally be listened to after many years of being told nothing is wrong, just hearing him agree with all our concerns was a bit too much and I didn’t think to ask. I will email on Monday but I was wondering if anyone here could advise me in the meantime so I’m not worrying over it all weekend.

This is all very new to us so I’m sorry if this is a daft question. Also, any advice on what to expect would be really great if anyone else has been through this process.

Many thanks in advance.

Carol.

In my experience of testing for fragile x they tested just for that and didn’t do an overall look at my sons genetics.

I've had my genetics tested twice for Kallmanns Syndrome and it's usually a blood test. For me the first time they tested everything and the second time they tested for KS. For me it was a regular blood test and I had to sign a form incase anything came back that would impact my family.

Thank you, I’ve tried to find the answers online but it seems to be a bit of a confusing minefield! I know nothing about genetic testing and feel very silly now for not asking :(

My son had a dna test done through court to prove he’s my ex’s and they picked up on gene mutations but the doctors didn’t when testing for fragile x

They just do tests on the genes they think might be affected. My son has deletions from chromosome 11 but as we knew what we were looking for that’s what they looked into. They also did mine and his dads bloods, mine came back similar so now my parents bloods are being looked at. It’s a long process.

That’s interesting Green!!

Do the results take long to come back do you know? Is it a long wait to actually have the test in your experience? I’m really stressing out over it all and I don’t even know why ‘cause it’s a good thing we’re finally being listened to!! It’s been an emotional rollercoaster of a day :(

We know this condition runs in my family, I have it, my mum has it and 3 of her sisters have it. It’s just that some of dd’s symptoms, some of the main symptoms actually, don’t fit with it. But it’s giid to know what to expect, thank you ever so much.

I think it varies but fragile x was a blood test which was horrific and we got the results within a couple of weeks I think. Dna testing was within a week and he’s now being tested for allergies which will be with us within a week.
It’s soooo frustrating having to wait isn’t it x

My sons took a few weeks where as mine took three/four months and it’s looking like my parents are going to be a few months too. Depends where they go to and how busy they are. My sons just went to Liverpool women’s from our local hospital, the rest of ours were done at LW’s and taken to Birmingham women’s to be looked at and compared to my sons. It would also probably depend how complicated it is too

It’s very frustrating green! My husband keeps saying that we’ve not known what’s been causing her so much pain and so many symptoms for 8 years so a few more months wont hurt. I just want to know though. I have terrible anxiety and I like to know exactly what to expect with everything lol. I’m teally not good with wait and see!

She’s been referred to Manchester I think.

One of my children was referred by a neurologist for testing and I know they were looking for a number of things. I was lucky enough to be given the results and an explanation of what it meant by a geneticist.

We were told of only this specific condition becuase it’s a very serious genetic condition to have. I’m not sure if ethically they are allowed to tell you of any incidental findings. I have many family members who have been tested for various cancers and I did wonder if they found it would they tell me. I was too overwhelmed at the meeting to ask this.

Im the same, feel for you!

I hadn’t even considered that they wouldn’t tell us of other things they’d possibly find. It’s all totally mind boggling to me. I’m so tired of worrying about her health, I think deep down I want them to test for everything just in case lol. I’ve suffered my whole life with this and I’m now in a wheelchair, unable to care for myself even, it’s hard because I don’t want this for her but we do want and need answers. I’m so conflicted :’(

I think if they find anything they will tell you, it would have to go on her medical record surely? Testing for paternity they could have just said he’s the dad but they mention the mutated chromosome too

I’d hope so. It seems like a bit of a gamble to not treat something that they know is there. But I’ve been surprised before, so I’m not assuming anything

If they refrrring you to genetics then the genetics team will talk it through and you can ask to see genetics counsellor before and after tests

They would usually do a full panel, looking for any genetic mutations. Ask them when you have the appointment for follow up. They should be able to give you the blood results.

A full panel can take months. I'm not sure how much you understand about genetic issues so don't mind me if I'm explaining what you already know. Imagine your genes are like a book, and when they look for a genetic disorder they are looking for an error in that book. A letter in the wrong place. A true genetic mutation would have that exact error in the same place from both parents.

Allthedogs, I know next to nothing about genetic issues. My mother and her sisters were diagnosed with genetic testing, but I was diagnosed based on symptoms alone. This was because my symptoms are so obvious and severe & due to the strong family history.

Thank you ever so much for the explanation, it really helped me to get my head around the very basics of it all.

My daughter had microarray testing which looked at her genetics overall. It took over 3 months for the test results which showed up her problem - but it was a general screening type test rather than them specifically looking for something that they expected and in our case the consultant was surprised to get an answer that showed a problem. After her diagnosis my husband and I were then tested for the same problem she has but those tests were much quicker as they were done by a technique known as FISH which was looking specifically at the same genetic area that she has an issue with. If I recall those results only took around 3-4 weeks.

I hope you get the answers you need soon. Good luck

They can test for a particular gene mutation, and rule that one disorder out, they can also do a microarray, CGH or FISH test (these cover more conditions and may come up with something completely unexpected). They can also put samples onto a large scale study, which can also come up with answers.

My ds was tested at 10 months for several specific conditions, all negative, he then had a microarray .......negative......CGH and FISH....also negative. Our samples were put in 3 large scale studies, and he has just been diagnosed with a very new, very rare syndrome.....4 years later (he is 7).

Your genetics Dr should have a genetics nurse who can talk you through any concerns. There is also a very good group called SWAN UK (Syndromes Without A Name) online, they have a mine of information about genetics and a very active and informative Facebook forum.

Good luck!