Community Discussion Forum Parent support could genetic test help ? Reply To: could genetic test help ?

Avatar of Apostolia

 We had the genetic test when my daughter was 6 months old (here, it is done for free).

They do a test to the little one, to know which two of the 400 mutations is the child carrying (one of each parent). A mutation is a small change to the DNA of the parents that can cause the deficiency of the enzyme, when it is present to both parents.

There are almost 400 known mutations, each one having a different severity. So, from what I understand, if you do the genetic test you can

i) predict the severity of the disorder. (This is not always the case, as doctors say that the only way is to test your child's tolerance by diet) and

ii) predict 
when you're pregnant weather the second child will have the PKU, doing an amnioparacentesis.

You decide if this knoweledge is usefull to you or not.

I hope this helps.

Quick Poll
Which of the following best describes you?
Parent/caregiver of an infant with PKU
Parent/caregiver of a child with PKU
Teenager with PKU
Adult with PKU
Grandparent of a child with PKU
Know someone with PKU
Healthcare professional