BioMed Research International

Laboratory Genetic Testing in Clinical Practice 2016

Publishing date
04 Nov 2016
Submission deadline
17 Jun 2016

Lead Editor

1Ege University, Izmir, Turkey

2Lausanne University Hospital, Lausanne, Switzerland

3UMDNJ-NJ Medical School, Newark, USA

4Warsaw Medical University, Warsaw, Poland

Laboratory Genetic Testing in Clinical Practice 2016


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, and MLPA). 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


  • Special Issue
  • - Volume 2017
  • - Article ID 5798714
  • - Editorial

Laboratory Genetic Testing in Clinical Practice 2016

Ozgur Cogulu | Jacqueline Schoumans | ... | Asude Alpman Durmaz
  • Special Issue
  • - Volume 2016
  • - Article ID 6341870
  • - Research Article

Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing

Isabella Bernardis | Laura Chiesi | ... | Enrico Tagliafico
  • Special Issue
  • - Volume 2016
  • - Article ID 3284534
  • - Research Article

Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders

Karen S. Ho | Hope Twede | ... | E. Robert Wassman
  • Special Issue
  • - Volume 2016
  • - Article ID 1298198
  • - Research Article

G-1639A but Not C1173T VKORC1 Gene Polymorphism Is Related to Ischemic Stroke and Its Various Risk Factors in Ukrainian Population

Yevhen I. Dubovyk | Viktoriia Yu. Harbuzova | Alexander V. Ataman
  • Special Issue
  • - Volume 2016
  • - Article ID 9850690
  • - Review Article

Molecular Diagnostics for Precision Medicine in Colorectal Cancer: Current Status and Future Perspective

Guoli Chen | Zhaohai Yang | ... | Ming-Tseh Lin
  • Special Issue
  • - Volume 2016
  • - Article ID 5623089
  • - Research Article

Improved Efficiency and Reliability of NGS Amplicon Sequencing Data Analysis for Genetic Diagnostic Procedures Using AGSA Software

Axel Poulet | Maud Privat | ... | Yannick Bidet
  • Special Issue
  • - Volume 2016
  • - Article ID 8759267
  • - Research Article

Necessity of Microdissecting Different Tumor Components in Pulmonary Tumor Pyrosequencing

Dahui Qin | Zhong Zheng | ... | Farah K. Khalil
  • Special Issue
  • - Volume 2016
  • - Article ID 6712529
  • - Research Article

Genetic Analysis of the Atrial Natriuretic Peptide Gene Polymorphisms among Essential Hypertensive Patients in Malaysia

Nooshin Ghodsian | Patimah Ismail | ... | Ali Etemad
  • Special Issue
  • - Volume 2016
  • - Article ID 6594039
  • - Research Article

WWOX CNV-67048 Functions as a Risk Factor for Epithelial Ovarian Cancer in Chinese Women by Negatively Interacting with Oral Contraceptive Use

Yongxiu Chen | Xiaochang Tan | ... | Xiping Luo
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