Is the DNA Sequence the Gold Standard in Genetic Testing? Quality of Molecular Genetic Tests Assessed

Abstract excerpt

Molecular genetic testing is a fast-growing diagnostic discipline. Only a few decades have passed since Kan and Dozy (1) described the first DNA test, which used a restriction enzyme digestion to test for sickle cell disease, and my group (2) reported the first use of linked DNA markers for first-trimester prenatal diagnosis of Duchenne muscular dystrophy. Since then, molecular genetic testing with direct or...

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