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Cases in Laboratory Genetics and Genomics (LGG) Practice

Langue : Anglais

Auteur :

Couverture de l’ouvrage Cases in Laboratory Genetics and Genomics (LGG) Practice

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.

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

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.
  • 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

Date de parution :

Ouvrage de 522 p.

19x23.4 cm

Disponible chez l'éditeur (délai d'approvisionnement : 14 jours).

145,45 €

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