Molecular Diagnosis

Molecular tools have sparked a revolution in the diagnosis of genetic disorders. In the past, genetic diagnosis was based exclusively on clinical criteria or on biochemical tests for the gene product or the consequences of its absence. Clinical criteria can be ambiguous, however, and sometimes features of an inherited disorder take years to develop, resulting in long periods of uncertainty about the diagnosis. Biochemical tests can produce equivocal results and often require invasive or expensive studies. Moreover, clinical criteria and biochemical tests have severe limitations when used to identify carriers or make a prenatal diagnosis.Molecular methods largely avoid these . . .