Have they missed the right blood test here? Turners syndrome

[Arethesetherightbloods]

My child is having some bloods taken shortly due to concerns over growth. The doctor mentioned he wanted to test to rule out turners syndrome (where they only have one x chromosome). I've come away with the form but I can't see anything that sounds like a karyotype test which is I think what's needed.

Before I send a potentially embarrassing email to the doctor asking him to check, I thought I'd see if anyone with knowledge is smite to shed any light on this.

My daughter has had a lot of tests and been poked and proved a lot so I'd like to avoid a further blood test if needed and just get it added on here if needed.

Thanks

Chromosomes / karyotype may have gone on a separate form to a separate lab. Often there's a different handwritten form you might have had to sign yourselves?

Your photo is giving away medical info about (presumably) you so you might want to redact the thyroid section.

I wonder if the karyotyping request is on the computer system? It would be worth asking, because I can't see if on the request. DH and I needed karyotying done when a pregnancy had a genetic issue- but I vaguely recall a hand written form, because it wasn't a regular blood test.

Do they use emla cream when they take your child's blood? It numbs the skin so its not as painful. Worth asking about, or you can buy the patches from larger pharmacies.

Thank you. I thought I'd managed to remove anything too identifying. How do I get it removed?

It's definitely not on a separate form somewhere as I've got the physical form to take with me, and the bloods are being done at a different hospital (hopefully, cross hospital cooperation pending, so I'm not holding my breath).

Thanks for the elma tip. She hates the stuff annoyingly. These bloods are being done (hopefully) at the same time as she's under GA for something else. It's not the end of the world if its done another time, but I'd rather avoid it if I can.

We phoned up the hospital in the end and they are going to check and get back to us tomorrow.

You did the right thing OP by asking them. It would be awful if she had the blood tests under sedation, and then they'd forgotten the karyotyping!

On a side note, I'm sure you know there are many support groups/facebook groups etc if she does have Turners Syndrome. x

Ok, I want to crawl into a rock and stay there 😳

There was a separate paper with the test on.

It was behind the other copy papers and I hadn't realised.

We only found this out when the secretary of my daughter's main consultant phoned after discussing it with the endocrinology consultant and asked me to check. I may be a bit pink in the face for a while 😬

Excruciating, but at least it's sorted.

Thanks for the tip about the groups, I'll look them to if it's positive. It can go in my collection of medical groups for the poor (amazing) kid!

Ttga is coeliac testing
Dd went thru all this for lack of growth and it was coeliac. No turner's etc. So if coeliac is straightforward to treat.
There is no identification on form you shared?
(If is turner's there is lots of support out there)

In my hospital they go on a separate request form. As it goes to a different lab.

@cestlavielife There is no identification on form you shared?

There is no name/DOB, but it does say what medication is being taken and another condition they are suspecting!

I think it's just a list of things to mention when requesting that test, not something specific to @Arethesetherightbloods's DD.

Just sending best wishes for the tests and wanted to say that I have a close friend with Turner's. She's over 70 now, and an amazing person who has had her challenges, but also a rich and varied career and life, with many friends and interests. She's one of my heroes - and amazing lady.

Ooh what else are they suspecting?
I know they are looking at celiac and possible growth hormone issues.

It says ? Myxoedema

Myxedema is a term used interchangeably with severe hypothyroidism or to describe a dermatological change that can occur in hypothyroidism

But if you not recording skin changes maybe is irrelevant?

It looks like a general set of bloods for indicators for poor growth same as my dd had.
To rule in or out the common causes of poor growth or short stature . Along with the turner's test

Is she baby toddler or older? Dd had these tests age 3 and celiac was identified tho she did go on to have further growth hormone testing ( more intensive all day long version) as well which were all fine

It says ?Myxodema but I don't think that it's saying that they suspect that for @Arethesetherightbloods 's child. They are giving the indications for that test.

@Arethesetherightbloods I'm pretty sure they are just running these tests as standard to rule out common issues which can cause growth difficulties.

Thank you.

She's 5. They'd like to do the full day growth tests first but need to get specialist advice first as growth hormones may be very dangerous for her, in which case they probably wouldn't bother with the test.