Molecular Genetic Testing in Mainstream Medicine

From the Editor and Authors:

DNA testing has been available for a growing number of rare Mendelian disorders over the last ten years but is now expanding into all areas of medicine. Newer tests provide information of clinical significance not only for diagnosis, but also for management and prevention of more common, adult-onset disorders. In this issue we discuss DNA tests for hypercoagulable states, hemochromatosis, dyslipidemia, maternal-fetal incompatibility, diabetes, neurodegenerative disorders and mental retardation. A listing of the laboratories in our region which offer DNA diagnostic tests is included at the end of this issue for your reference.

This issue of Genetic Drift is the second in a series of two updates on the clinical application of genetic diagnostic technologies. The first issue in Spring 1996 dealt with the uses of molecular cytogenetics (FISH) in the diagnosis of genetic chromosomal disorders. It is our intention to assist our primary care colleagues in the understanding and utilization of the more than 400 available genetic tests. Our scope is by necessity limited, and we invite questions which can be directed to the individual laboratories or the Editor. Lastly, the Teratogen Hot Topic is Pregnancy Exposure Registries and how they can serve your patients.

This issue was spearheaded by Annette Taylor, Ph.D. (CO) and John P. Johnson, M.D. (MT), with additional contributions from Stephanie Hallam, Ph.D. (UT), Marian Rewers, M.D., Ph.D. (CO), Elaine Spector, Ph.D. (CO) and Marsha Leen-Mitchell (UT).

Carol Clericuzio, M.D. (NM),
Editor

Support for this issue of the Genetic Drift has been provided by the COPIC Medical Foundation, Englewood, Colorado.

The Genetic Drift Newsletter is not copyrighted. Readers are free to duplicate all or parts of its contents. The Genetic Drift Newsletter is published semiannually by the Mountain States Genetics Network for associates & those interested in Human Genetics. In accordance with accepted publication standards, we request acknowledgement in print of any article reproduced in another publication. The views expressed in the newsletter do not necessarily reflect local, state, or federal policy. For additional information, contact Carol Clericuzio, M.D., Editor, Department of Pediatrics, The University of New Mexico, Albuquerque, NM, 87131

Molecular Genetic Testing in Mainstream Medicine:
Table of Contents
Introduction
Venous Thrombosis and the Factor V (Leiden) Mutation
DNA Testing for Hereditary Hemochromatosis
APO E Genotype Testing for Broad Beta Disease (Type III Hyperlipoproteinemia)
Fetal Rh Testing for Maternal-Fetal Incompatibility
Type 1 (insulin-dependent) Diabetes Mellitus
Adult Onset Neurodegenerative Disorders: CAG Triplet Repeat Expansion Mutations
Genetic Testing for Prader-Willi and Angelman Syndromes
Clinical and Applied Molecular Genetics Laboratories - MoSt GeNe Region