
Cases in Laboratory Genetics and Genomics (LGG) Practice
Xia Li(Author)
Academic Press
Published on 6. June 2023
Book
Paperback/Softback
522 pages
978-0-323-99622-8 (ISBN)
Description
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.
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.
Reviews / Votes
*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.? -- (c)Doody's Review Service, 2024, Mark F. Sanders, PhD (UC Davis College of Biological Sciences)More details
Language
English
Place of publication
Oxford
United Kingdom
Publishing group
Elsevier Science & Technology
Target group
Professional and scholarly
Product notice
Paperback (trade)
Unsewn / adhesive bound
Dimensions
Height: 190 mm
Width: 232 mm
Thickness: 29 mm
Weight
1040 gr
ISBN-13
978-0-323-99622-8 (9780323996228)
Copyright in bibliographic data and cover images is held by Nielsen Book Services Limited or by the publishers or by their respective licensors: all rights reserved.
Schweitzer Classification
Other editions
Additional editions

E-Book
06/2023
Academic Press
€131.00
Available for download
Person
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.
Author
Scientific Medical Director, Genetics/Genomics Division, Sonora Quest Laboratories; Associate Professor, Pathology, University of Arizona - School of Medicine, Phoenix, Az, USA
Content
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
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