Cases in Laboratory Genetics and Genomics (LGG) Practice instructs readers in 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 INDICE: Part I Inborn diseases 1. Multiple congenital anomalies 2. Molar pregnancy 3. Sex chromosomal abnormalities 4. Infertility 5. Developmental Delay 6. Consanguinity 7. Imprinting disorders Part II Hematologic malignancies 8. AML 9. MDS 10. Ph+ leukemia 11. Acute leukaemia with ambiguous lineage 12. Pre B-ALL 13. Mature B cell neoplasms 14. Mature T-cell neoplasms 15. Hodgkin Lymphoma Part III Solid Tumours 16. Lung cancer 17. Colorectal cancer 18. Melanoma 19. Thyroid cancer 20. Other tumours
- ISBN: 978-0-323-99622-8
- Editorial: Academic Press
- Encuadernacion: Rústica
- Páginas: 384
- Fecha Publicación: 01/06/2023
- Nº Volúmenes: 1
- Idioma: Inglés