Through research, we understand that Lowe Syndrome is caused by an alteration (mutation) in a gene called OCRL1. This allows us to use DNA analysis of a blood sample to confirm the diagnosis of Lowe Syndrome. The accuracy is extremely high with this type of testing -- approximately 99%.
DNA analysis can also be used to test for the Lowe Syndrome mutation in potential female carriers, providing the actual mutation is known. This means that we would first need to have identified the exact location of the mutation in family member known to have a diagnosis of Lowe Syndrome.
The Baylor College of Medicine in Houston, Texas is offering molecular genetic testing for the Lowe Syndrome. Additional information is available at
- www.bcmgeneticlabs.org.
- http://www.bcmgeneticlabs.org/tests/dna/lowe.html
- http://www.bcmgeneticlabs.org/tests/biochem/phosphatidylinositol-4.html
For a listing of other laboratories that provide DNA testing, please see the table of testing laboratories.
© Copyright 2000-2008, Lowe Syndrome Association, All Rights Reserved.