Techniques in Diagnostic Human Biochemical Genetics

Presents descriptions of the procedures currently in use in diagnostic biochemical genetics laboratories around the world. It offers not only accounts of methodology, but also provides guidelines for the interpretation of both standard and abnormal results.

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Detailed and specific descriptions of the procedures currently in use in diagnostic biochemical genetics laboratories around the world are presented here. The study offers not only accounts of methodology, but also provides guidelines for the interpretation of both standard and abnormal results. Many of the chapters contain introductory sections describing background information of the development of a particular genetic test, and an evaluation of the clinical significance and applicability of the test.