Molecular Diagnosis of Genetic Diseases

This second edition of "Molecular Diagnosis of Genetic Diseases" greatly expands and updates the information contained in the first edition. The book covers the applications of molecular diagnostics in clinical practice and discusses controls, pitfalls and guidance on interpretation and reporting.

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This second edition of Molecular Diagnosis of Genetic Diseases greatly expands and updates the information contained in the best-selling first edition. In addition, the book is now divided into two logical sections comprising a total of 55 chapters. The first section covers the applications of molecular diagnostics in clinical practice. Each application chapter opens with a brief introduction, and then describes categories of referral and guidance on suitable referral criteria for genetic testing, and also provides a descriptive overview of the various methods used in testing. At the core of each chapter is a handy table listing key primers and conditions for testing. Chapters also discuss controls, pitfalls, and offer guidance on interpretation and reporting. The basic techniques chapters provide step-by-step methods such as PCR, hybridization assays and detection techniques that can be easily reproduced in the genetics testing lab. Together, these 55 chapters provide the single-most comprehensive reference for the molecular diagnosis of genetic diseases.