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.
1. Title of Book - p. i 2. Cover image - p. i 3. Title page - p. ii 4. Table of Contents - p. iii 5. Copyright - p. iii 6. Dedication - p. iii 7. Contributors - p. iii 8. Foreword - p. xxi 9. Preface - p. xxii 10. Acknowledgments - p. xxii 11. Part I: Inborn diseases - p. xxii 12. 1. Multiple congenital anomalies and developmental delay - p. 3 13. 2. Molar pregnancy - p. 19 14. 3. Sex chromosomal abnormalities - p. 27 15. 4. Consanguinity - p. 55 16. 5. Uniparental disomy and imprinting disorders - p. 65 17. 6. Pallister-Killian syndrome - p. 83 18. 7. Fragile X syndrome - p. 91 19. 8. Overgrowth syndrome - p. 97 20. 9. Contiguous gene syndrome - p. 107 21. 10. Thrombosis - p. 125 22. 11. Pharmacogenomics - p. 129 23. Part II: Hematologic malignancies - p. 131 24. 12. Chronic myeloid leukemia - p. 135 25. 13. Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions - p. 155 26. 14. Myelodysplastic/myeloproliferative neoplasms - p. 175 27. 15. Myelodysplastic neoplasms - p. 185 28. 16. Acute myeloid leukemia (AML) - p. 203 29. 17. Blastic plasmacytoid dendritic cell neoplasm (BPDCN) - p. 269 30. 18. Acute leukemias of ambiguous lineage - p. 275 31. 19. Precursor lymphoid neoplasms - p. 291 32. 20. Mature B-cell neoplasms - p. 341 33. 21. Mature T-cell neoplasms - p. 373 34. Part III: Solid tumors - p. 386 35. 22. Lung cancer - p. 389 36. 23. Colorectal cancer - p. 401 37. 24. Melanoma - p. 407 38. 25. Breast cancer - p. 413 39. 26. Thyroid cancer - p. 421 40. 27. Pediatric solid tumors - p. 427 41. Index - p. 479 42. Case Index - p. 493
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.
1. Title of Book - p. i 2. Cover image - p. i 3. Title page - p. ii 4. Table of Contents - p. iii 5. Copyright - p. iii 6. Dedication - p. iii 7. Contributors - p. iii 8. Foreword - p. xxi 9. Preface - p. xxii 10. Acknowledgments - p. xxii 11. Part I: Inborn diseases - p. xxii 12. 1. Multiple congenital anomalies and developmental delay - p. 3 13. 2. Molar pregnancy - p. 19 14. 3. Sex chromosomal abnormalities - p. 27 15. 4. Consanguinity - p. 55 16. 5. Uniparental disomy and imprinting disorders - p. 65 17. 6. Pallister-Killian syndrome - p. 83 18. 7. Fragile X syndrome - p. 91 19. 8. Overgrowth syndrome - p. 97 20. 9. Contiguous gene syndrome - p. 107 21. 10. Thrombosis - p. 125 22. 11. Pharmacogenomics - p. 129 23. Part II: Hematologic malignancies - p. 131 24. 12. Chronic myeloid leukemia - p. 135 25. 13. Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions - p. 155 26. 14. Myelodysplastic/myeloproliferative neoplasms - p. 175 27. 15. Myelodysplastic neoplasms - p. 185 28. 16. Acute myeloid leukemia (AML) - p. 203 29. 17. Blastic plasmacytoid dendritic cell neoplasm (BPDCN) - p. 269 30. 18. Acute leukemias of ambiguous lineage - p. 275 31. 19. Precursor lymphoid neoplasms - p. 291 32. 20. Mature B-cell neoplasms - p. 341 33. 21. Mature T-cell neoplasms - p. 373 34. Part III: Solid tumors - p. 386 35. 22. Lung cancer - p. 389 36. 23. Colorectal cancer - p. 401 37. 24. Melanoma - p. 407 38. 25. Breast cancer - p. 413 39. 26. Thyroid cancer - p. 421 40. 27. Pediatric solid tumors - p. 427 41. Index - p. 479 42. Case Index - p. 493
