Abstract
Genetic disorders are most often diagnosed in affected persons on the basis of clinical and family histories, physical examination, and clinical laboratory tests. Diagnosis based on analysis of DNA samples from patients and their families is a more recent approach that presents distinct advantages. These include diagnosis of a disease before its clinical appearance, prenatal diagnosis, detection of carriers, and discrimination among phenotypically similar but genetically disparate conditions. The remarkable progress in molecular diagnosis of genetic diseases witnessed during the past decade is a direct consequence of the clinical application of recombinant-DNA techniques.Much is now known that is directly . . .
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