Another Question About Fragile X DNA Testing.

[JAKEJEM]

Sorry guys! Yet another question about Fragile X Testing. We have been given a wait for the diagnosis of approx 3/4 weeks, has anyone else's children had this test and how long did you wait for the results. Also, how were you told? Thanks once again. I really appreciate your thoughts and comments during this difficult time.

I had to ring and ask for the results. 3-4 weeks may suggest that they are doing a karyotype as well. - I think they did that with us.

3-4 weeks sounds quite good - in this region the 'target time' is 6 weeks for the first DNA test (and another 6 weeks for the second test if it is required).
If they took 2 blood samples (2 different tubes of blood) they are probably dong a karyotype test too. The karyotype target time is 28 days, in our region it takes less than 21 days at the moment but there is a national shortage of qualified staff so it can be months in some areas .
The results for the DNA test and the karyotype are sent to your doctor seperately. As Jimjams said, ring and ask after a few weeks, then keep ringing back at regular intervals if the results aren't through.

My ds had this test, we were only able to get the results when we had our next routine paed appt which at the time was not for a further 3 months.

Hi blue bear and JimJams, yes they did take 2 tubes of blood and the word karyotype was mentioned along with chromosone testing - could you tell me what else they are looking for as she didn;t really explain too well - DS was really going off on one!!! Poor lad. Can I ask what area you are in BlueBear? We are in Northern Ireland (Military) at the moment so am hoping the results are not going to take too much longer than the mainland. I think the worst part is this constant waiting.

A karyotype is just a chromosome check. So they culture cells then get some chromosome checks (its takes a while because they cells have to be cultured). It'll pick up any obvious changes in chromosome structure. It's unlikely to pick up anything tbh- but is worth doing at the same time to rule out anything obvious.

Hi Jakejem - No advice, but just wanted to say hello

Hi Lillypond. Have been thinking about you.
Hope you are OK, feel like I am going mad counting down the days until the results are due in. Im sure you understand how I feel. Keep in touch X

My DS had a test for Fragile X this week. (I finally plucked up courage after weeks of carrying the form around in my bag, as I also wanted him tested for anaemia bcause of his restricted diet and coeliac disease as another DS has this. DS was DX with AS earlier this year). The request form just said "Chromosome analysis" for Fragile X. He had 5 bottles of blood taken in all-I dont know how much was for the Fragile X test. The phlebotomist was unable to tell me how long the results would take for the Fragile X as it is sent to another hospital for analysis. Does this sound like the one which takes about a month to come through?

Jakejem - I'm on the mainland - don't know how long tests are taking in NI at the moment. Hope you don't have to wait too long.

Tiggiwinkle - I'd say the same as I did to Jakejem further down - it's worth ringing after 4 weeks or so but don't be surprised if it takes longer. The DNA test is done in 2 parts, the first part screens out all the patients who def. don't carry the mutated gene, (and in this region is meant to take about 6 weeks) . The second test has to be used if the first one is 'inconclusive' (which happens due to various technical reasons) and should take a further 6 weeks. The blood is sent to a different hospital because genetic tests are dealt with by regional centres as they need special expertise. As I said further down, there is a national shortage of qualified staff so in some areas it can take months for the test results to come through. Hope you get a speedy result.

We had the tests done on Friday and they said 5 weeks to us,apparently the samples have to be sent to addenbrokes.Have to say they were very good to ds2,we actuallywent to the PAU so they weer very geared up to children.He was more traumatised I think by having to wee in a pot!Invasion of male privacy I think!

Have very mixed feelings at the moment,a little part of me wants the reult to come back positive so that at least we will have some answers but another part can't bear to think of my little boy having something extra to cope with,because he will be just the same person to me and everyone who loves him,diagnosis or not.

Has anyone had their results yet,I know i should put it too the back of my mind but it just keeps popping up.also when the time is up I am not sure weather to call the paed or wait for her to contact us.

ds had these blood tests last Friday. We were given a 3-4 week waiting time. Can anyone tell me what Fragile x means as a diagnosis?