BioMed Research International

Laboratory Genetic Testing in Clinical Practice 2014


Publishing date
08 Aug 2014
Status
Published
Submission deadline
21 Mar 2014

Lead Editor

1Faculty of Medicine, Ege University, Izmir, Turkey

2Departement de laboratoire, Lausanne, Switzerland

3Institute of Genomic Medicine, UMDNJ-NJ Medical School, Newark, NJ, USA

4Warsaw Medical University, Warsaw, Poland

5Ege University Faculty of Medicine, Izmir, Turkey

5Ege University Faculty of Medicine, Izmir, Turkey


Laboratory Genetic Testing in Clinical Practice 2014

Description

Recent advances in laboratory genetics had a substantial impact on the diagnostic and prognostic evaluation of the human diseases in the clinical genetics laboratory. Novel clinical genomics methods, such as next generation sequencing and chromosomal microarray analysis, have provided important insights into the underlying basis of rare Mendelian diseases as well as common multifactorial diseases. Although novel clinical genomics methods are powerful diagnostic tools, they have not entirely replaced the traditional laboratory techniques such as karyotype analysis by cytogenetics, FISH analysis by molecular cytogenetics, and classical molecular genetic analysis methods (e.g., Sanger DNA sequence analysis, polymerase chain reaction, strip tests, DHPLC, MLPA, and many others). Traditional testing methodologies still have a role in the clinical laboratory, depending on the test indication.

Understanding the practical use of the aforementioned genetic testing methods and the proper interpretation of the generated test results become a necessity not only for medical geneticists but also for other specialists as well. Furthermore, in the clinical practice, physicians need to order the most suitable genetic test in the right time for the right indication to prevent under- or overutilization of those tests. Therefore, a medical source, which provides essential updated information on novel clinical genomics methods in combination with traditional genetic assays and their potential use in clinical practice and research, is of paramount importance to the medical community. This special issue aims to provide updated information about the scientific advances and traditional genetic assays in the field of laboratory genetics for physicians and researchers, which will improve their knowledge, attitudes, and practices regarding genetic testing. Potential topics include, but are not limited to:

  • Cytogenetics
  • Fluorescence in situ hybridization
  • DNA sequence analysis
  • PCR
  • Strip assay
  • Denaturing high-performance liquid chromatography
  • Methylation analysis
  • Multiplex ligation-dependent probe amplification
  • Microarray
  • Next generation sequencing
  • Approach to MR/MCA patients
  • Genetic testing in cancer
  • Genetic testing in complex diseases
  • Genetic testing in single gene disorders
  • Genetic testing in mitochondrial diseases
  • Revealing epigenetic mechanisms
  • Appropriate genetic testing strategies

Before submission authors should carefully read over the journal’s Author Guidelines, which are located at http://www.hindawi.com/journals/bmri/guidelines/. Prospective authors should submit an electronic copy of their complete manuscript through the journal Manuscript Tracking System at http://mts.hindawi.com/submit/journals/bmri/genetics/gtcp14/ according to the following timetable:


Articles

  • Special Issue
  • - Volume 2015
  • - Article ID 574798
  • - Editorial

Laboratory Genetic Testing in Clinical Practice 2014

Ozgur Cogulu | Jacqueline Schoumans | ... | Asude Alpman Durmaz
  • Special Issue
  • - Volume 2015
  • - Article ID 461524
  • - Review Article

Evolution of Genetic Techniques: Past, Present, and Beyond

Asude Alpman Durmaz | Emin Karaca | ... | Ozgur Cogulu
  • Special Issue
  • - Volume 2014
  • - Article ID 542395
  • - Research Article

Cytogenetic as an Important Tool for Diagnosis and Prognosis for Patients with Hypocellular Primary Myelodysplastic Syndrome

Daiane Corrêa de Souza | Cecília de Souza Fernandez | ... | Teresa de Souza Fernandez
  • Special Issue
  • - Volume 2014
  • - Article ID 434072
  • - Research Article

Evaluation and Integration of Genetic Signature for Prediction Risk of Nasopharyngeal Carcinoma in Southern China

Xiuchan Guo | Cheryl A. Winkler | ... | Stephen J. O’Brien
  • Special Issue
  • - Volume 2014
  • - Article ID 396947
  • - Research Article

Rho GTPase-Activating Protein 35 rs1052667 Polymorphism and Osteosarcoma Risk and Prognosis

Jinmin Zhao | Hua Xu | ... | Yang Wu
  • Special Issue
  • - Volume 2014
  • - Article ID 175405
  • - Research Article

Analysis of Genotype 1b Hepatitis C Virus IRES in Serum and Peripheral Blood Mononuclear Cells in Patients Treated with Interferon and Ribavirin

Iwona Bukowska-Ośko | Kamila Caraballo Cortés | ... | Marek Radkowski
  • Special Issue
  • - Volume 2014
  • - Article ID 302487
  • - Clinical Study

Whole Exome Sequencing Reveals Genetic Predisposition in a Large Family with Retinitis Pigmentosa

Juan Wu | Lijia Chen | ... | Zi-Bing Jin
  • Special Issue
  • - Volume 2014
  • - Article ID 542541
  • - Research Article

Genetic Testing in Hereditary Breast and Ovarian Cancer Using Massive Parallel Sequencing

Anna Ruiz | Gemma Llort | ... | Miriam Guitart
  • Special Issue
  • - Volume 2014
  • - Article ID 210401
  • - Research Article

Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing

Helle Høyer | Geir J. Braathen | ... | Michael B. Russell
  • Special Issue
  • - Volume 2014
  • - Article ID 195793
  • - Research Article

Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain

María-Isabel Tejada | Guillermo Glover | ... | Montserrat Milà
BioMed Research International
 Journal metrics
Acceptance rate31%
Submission to final decision82 days
Acceptance to publication52 days
CiteScore2.410
Impact Factor2.197
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