Short child and genetic testing

[AnneGG]

Hi everyone, I have a short child (he's two and below 0.4 centile; husband and I are both 50th centile). We attended a paediatric appointment yesterday for his short stature and have been referred for genetic testing to see if he has any underlying conditions. Has anyone else been through this process and could let me know what it is like? Thank you!

DC1 has had it as an adult to check for a micro deletion on the STS gene which can cause short stature in girls and women.

Sorry I meant to post more. We had a chat with the Consultant then DC1was sent for a blood test but they should use numbing cream for a child.

DC1 had the results via a report with the option of a follow up appointment. They do have the deletion but it’s not one that they’ve seen before so nobody can really tell them any more information.

Thanks for that info!