Genetic alterations

is it possible to diagnose PKU by doing a routine chromosome study?

[Dragon1973]

Hi Jehlee,
First I want to get your post moved from the Down syndrome forum to the Genetics Forum.

In answer to your question:  I want to give you some information about PKU.  See here if you haven't already:
http://www.medhelp.org/lib/pku.htm
http://ghr.nlm.nih.gov/condition=phenylketonuria

I believe if you speak to your genetics counsellor, you can have this PKU tested by doing a Karyotype.

In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.

Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator

[eureka254]

A routine chromosome study, also commonly referred to as peripheral blood karyotype, does not usually check for PKU.  In the United States, all newborns are screened for PKU using biochemical testing (not chromosome testing) after birth.  It is possible to test for PKU using gene testing, but the process is considerably longer and more expensive.  Genetic testing for PKU would involve DNA mutation analysis, which is quite different from chromosome analysis.  Hope that helps. ~eureka