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Cases in Laboratory Genetics and Genomics (LGG) Practice

Autor Xia Li
en Limba Engleză Paperback – 6 iun 2023
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
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Specificații

ISBN-13: 9780323996228
ISBN-10: 0323996221
Pagini: 522
Dimensiuni: 191 x 235 x 29 mm
Greutate: 1.07 kg
Editura: ELSEVIER SCIENCE

Public țintă

Human geneticists; Pathologists; Medical Geneticists
Students and trainees of human genetics, medical genetics, and pathology; genetic counselors

Cuprins

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

Recenzii

*4 stars* “...addresses the intersection of new genetic and cytogenetic methods in the identification of abnormalities in human hereditary and developmental disease…. This book is the first to explicitly address this merger by providing more than 100 case analyses describing the background, approach, analysis, and interpretation of the various methods used to derive an accurate identification of abnormalities underlying various genetic diseases. The book's purpose is to provide up-to-date training information in laboratory genetics, and it accomplishes this goal admirably…. [The] author has excellent credentials and is an authority in the subject matter…. This is an excellent book....[and] presents its information in a consistent and easily understood manner. For the intended audience, this book is more useful than other recent publications in the same general area.” --©Doody’s Review Service, 2024, Mark F. Sanders, PhD (UC Davis College of Biological Sciences)