Hosszú leírás:

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.

Tartalomjegyzék:

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