Genetics Community
Genetic alterations
About This Community:

This patient support community is for discussions relating to a person’s predisposition to a variety of medical conditions such as Alzheimer’s, blood-clotting disorders, breast cancer, cystic fibrosis, diabetes, Marfan syndrome, and Ehlers-Danlos Syndrome.

Font Size:
A
A
A
Background:
Blank
Blank
Blank
Blank Blank

Genetic alterations

is it possible to diagnose PKU by doing a routine chromosome study?
Related Discussions
2 Comments Post a Comment
Blank
1227139_tn?1367231533
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
Blank
419309_tn?1326506891
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
Blank
Post a Comment
To
Blank
Weight Tracker
Weight Tracker
Start Tracking Now
Genetics Community Resources
RSS Expert Activity
469720_tn?1388149949
Blank
Abdominal Aortic Aneurysm-treatable... Blank
Oct 04 by Lee Kirksey, MDBlank
242532_tn?1269553979
Blank
The 3 Essentials to Ending Emotiona...
Sep 18 by Roger Gould, M.D.Blank
242532_tn?1269553979
Blank
Control Emotional Eating with this ...
Sep 04 by Roger Gould, M.D.Blank