NOTE by Webmaster Curtis L. Atkin: The original version of this article appeared in the HNF Newsletter No. 24, March 1992. I have here updated some addresses. Prospective clients should see the newer page DNA Diagnostic Lab -- Alport Syndrome, and also might well read both Should You Consider Gene Testing? and Understanding Gene Testing.
The University of Utah DNA Diagnostic Laboratory is now offering diagnostic testing for the hereditary kidney disease of Alport syndrome. This testing has recently become possible because of research at University of Utah, University of Oulu (Finland), and elsewhere to discover the abnormal genes which cause this disease. Testing is relatively expensive but is covered by many forms of health insurance.
DNA tests can be used to diagnose "at risk" children that may show few or no signs or symptoms of Alport syndrome. Gene-carrier status may also be determined in asymptomatic adult females at risk, as well as in potential kidney donors within a family. DNA testing can even be performed before birth.
For about 15% of families with Alport syndrome, a straightforward test called "Southern blotting" offers direct demonstration of abnormalities, or mutations, in the COL4A5 "Alport" gene on the X chromosome. This test requires blood samples from one or more persons.
A more complicated but more general test called "genetic linkage" is applicable to most other families. To perform the test, blood samples are required from (1.) at least two affected or known gene-carrier relatives, from (2.) the person being tested, and (3.) from certain other unaffected relatives.
Because of the complexities of DNA testing it must be arranged through your physician or the Hereditary Nephritis Clinic at the University of Utah. Please direct your inquiries to the following:
Kenneth Ward MD, Director
Stephanie Hallam, Assistant Director
Lesa Nelson, Lab Supervisor
University of Utah DNA Diagnostic Laboratory
Eccles Institute of Human Genetics, Room 2420
10 North 2030 East
Salt Lake City, UT 84112
801-581-8334
Martin C. Gregory MD
Professor of Internal Medicine
Director, Hereditary Nephritis Clinic
Division of General Internal Medicine
University of Utah Health Sciences Center
Salt Lake City, UT 84132
801-581-7818, fax 801-581-5393