Cases in Laboratory Genetics and Genomics (Lgg) Practice

Erscheinungsjahr 2023
ISBN: 978-0-323-99622-8
Verlag: Elsevier Science

Buch, Englisch, 522 Seiten, Format (B × H): 232 mm x 190 mm, Gewicht: 1040 g

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.

Autoren/Hrsg.

Li, Xia

Fachgebiete

• Naturwissenschaften Biowissenschaften Biowissenschaften Genetik und Genomik (nichtmedizinisch)

Inhaltsverzeichnis

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

Über Autor(innen)

Li, Xia
Dr. Xia Li is the Scientific Medical Director of Genetics/Genomics Division at Sonora Quest Laboratories and Associate Professor of Pathology Department at University of Arizona. She received her Ph. D degree in human genetics in 1995 from Fudan University in China, and had 4 years of training in cytogenetics and molecular genetics through the program of American Board of Medical Genetics and Genomics (ABMGG). She was certified in both Molecular and Cytogenetics through ABMGG. After training, she became the Associate Director of Cytogenetics Laboratory at AmeriPath Northeast from 2010 to 2013, and the Associate Director of Cytogenetics Laboratory at Cincinnati Children’s Hospital from 2013 to 2016. She joined Sonora Quest Laboratories in 2016, where she oversees the operation of the laboratory. She also participates in the teaching and training of medical students and residents. Dr. Li has been working in the field of Genetics/Genomics diagnostics for over 13 years with extensive experience in clinical diagnostics using karyotyping, FISH, PCR, microarray and NGS technologies. She has published over 50 peer-reviewed articles and owns 2 patents.