Description
Cases in Laboratory Genetics and Genomics (LGG) Practice instructs readers in the lab-based diagnosis of genetic conditions, including inborn and acquired disorders using cytogenetics and molecular genetics technologies. This entirely case-based 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 disorder discussed includes a section on clinical background, clinical indication, tests ordered, laboratory tests performed, test results, results with interpretations, future testing and recommendations, and references.The book will help lab professionals understand and navigate clinical cases using an integrative approach, and thoroughly understand the methodologies and interpretations involved in high complexity genetic testing.- Presents clinical cases illustrating the complexity of the genetic abnormalities and successful diagnoses- Discusses the technologies best suited to detect DNA mutations, copy number variations, and chromosome or RNA translocations- Aids lab professionals in ensuring tests ordered are optimal for clinical indications- Prepares trainees for the American Board of Medical Genetics and Genomics (ABMGG) LGG course and exam
Table of Contents
Part I Inborn diseases1. Multiple congenital anomalies2. Molar pregnancy3. Sex chromosomal abnormalities4. Infertility5. Developmental Delay6. Consanguinity7. Imprinting disordersPart II Hematologic malignancies8. AML9. MDS10. Ph+ leukemia11. Acute leukaemia with ambiguous lineage12. Pre B-ALL13. Mature B cell neoplasms14. Mature T-cell neoplasms15. Hodgkin LymphomaPart III Solid Tumours16. Lung cancer17. Colorectal cancer18. Melanoma19. Thyroid cancer20. Other tumours
