Mastering Laboratory Genetics and Genomics: A Case-Based Approach

Accurate diagnosis of genetic conditions is crucial in laboratory genetics and genomics (LGG) practice. “Cases in Laboratory Genetics and Genomics” by Xia Li is a comprehensive, entirely case-based book that guides readers in the lab-based diagnosis of genetic disorders, including inborn and acquired conditions, using cytogenetics and molecular genetics technologies.

Comprehensive Coverage of Genetic Cases

This book covers a wide range of genetic cases, from prenatal to postnatal and oncology genetic disorders, which lab professionals and geneticists encounter daily in the diagnostic field. Each case study includes:

• Clinical background and indication
• Tests ordered and laboratory tests performed
• Test results and interpretations
• Future testing and recommendations
• References for further reading

Integrative Approach to Genetic Testing

By presenting real-life clinical cases, this book helps lab professionals understand and navigate complex genetic cases using an integrative approach. It thoroughly explains the methodologies and interpretations involved in high-complexity genetic testing, including:

• Detecting DNA mutations, copy number variations, and chromosome or RNA translocations
• Selecting the optimal technologies for diagnostic testing

Preparing for ABMGG Certification

This book is an invaluable resource for trainees preparing for the American Board of Medical Genetics and Genomics (ABMGG) LGG course and exam. It provides practical knowledge and insights into the diagnosis and management of genetic disorders, ensuring that readers are well-equipped to handle complex cases with confidence.

Published by Elsevier Science, this book is available in English and features ISBNs 9780323996228 and 9780323996235.