Use of PCR in the Diagnosis of Monogenic Disease

Abstract

Since the fall of 1987, PCR technology has had a revolutionary impact upon the prenatal diagnosis of single gene disorders and carrier testing for these disorders. PCR technology has not yet expanded the repertoire of diseases which can be detected, but it has greatly expanded the options of the laboratory diagnostician. At Johns Hopkins it has allowed us to diagnose disorders with greater speed, greater accuracy, and with greater technical flexibility. Examples illustrating each of these improvements follow.