Molecular genetic testing for inherited disorders

Abstract

This review focuses on molecular genetic testing for heritable disorders. Molecular genetic testing has generated tremendous interest because of the scientific and social hype surrounding the Human Genome Project, the accelerating rate of gene discovery, the quick transition of scientific discoveries into clinically applicable genetic tests and the unique nonmedical applications of genetic testing. All of these developments have been superimposed upon increasing individual autonomy in medical care and the pervasive information-seeking behavior of the Information Age.

• carrier detection
• genetic counseling
• germline mutation
• molecular diagnostics
• patient care
• predictive testing
• prenatal diagnosis