Lowe Syndrome Association

On The Beam

DNA diagnostic testing now available at Baylor College of Medicine

Women who are at-risk for being carriers of the Lowe syndrome gene may now simply roll up their sleeves and provide a blood sample in order to find out whether or not they are carriers. Previously, the only widely available method for determining carrier status was an eye examination that required an experienced and knowledgeable ophthalmologist. In some families, genetic analysis was possible, but no laboratory was able to provide the service on a regular basis and the analysis was difficult and involved many family members.

Now, as a result of an LSA-supported research project undertaken by Ti Lin, Ph.D., a new method has been developed. Called DHPLC Analysis, the new method works by screening first for the most common Lowe syndrome mutations. This test can be done even when the specific mutation in a given family is not known. The test is considered to be about 95% accurate.

Although blood samples can be taken in the local community, the actual analysis will be done at the DNA Diagnostic Laboratory at Baylor College of Medicine, in Houston, Texas. The lab will also provide full DNA sequence analysis of affected males. When possible, doing a full DNA analysis of the affected male and locating the mutation is preferred. Subsequent DNA sequence analysis of at-risk females would then be about 99% accurate. In some cases, eye exams may still be recommended. In most cases, genetic counseling is also recommended.

The DHPLC test will cost about $950. DNA Sequence Analysis of an affected male would cost about $1900, and analysis of related at-risk females would cost about $250. Individuals will need to check with their insurance companies to determine whether their policies will cover these procedures.

To make arrangements for any of these tests, physicians should contact the DNA Diagnostic Laboratory at: 1-800-226-3624 or 713-798-6536. FAX: 713-798-6584. E-mail: dnalab@bcm.tmc.edu. Complete information is also available on the web at: www.bcmgeneticlabs.org.

The LSA is very pleased that this testing will now be available at the Baylor Lab. We especially appreciate the help of Ti Lin, Ph.D., Richard A. Lewis, M.D., Robert L. Nussbaum, M.D., and Ben Roa, Ph.D., for making this development possible.

OTB 2001, v20:1