BioMed Research International

Laboratory Genetic Testing in Clinical Practice


Publishing date
15 Mar 2013
Status
Published
Submission deadline
26 Oct 2012

Lead Editor

1Division of Genetics, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey; Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, 35100 Bornova, Turkey

2Pediatric Genetics Unit, Department of Pediatrics, Acibadem University School of Medicine, Istanbul, Turkey

3Cytogenetics & Molecular Genetics Laboratories, Institute of Genomic Medicine, UMDNJ-NJ Medical School, Newark, NJ 07109, USA


Laboratory Genetic Testing in Clinical Practice

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 know ordering 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/jbb/guidelines/. Prospective authors should submit an electronic copy of their complete manuscript through the journal Manuscript Tracking System at http://mts.hindawi.com/ according to the following timetable:


Articles

  • Special Issue
  • - Volume 2013
  • - Article ID 532897
  • - Editorial

Laboratory Genetic Testing in Clinical Practice

Ozgur Cogulu | Yasemin Alanay | Gokce A. Toruner
  • Special Issue
  • - Volume 2013
  • - Article ID 958510
  • - Research Article

Identification and Characterization of DM1 Patients by a New Diagnostic Certified Assay: Neuromuscular and Cardiac Assessments

Rea Valaperta | Valeria Sansone | ... | Giovanni Meola
  • Special Issue
  • - Volume 2013
  • - Article ID 626083
  • - Research Article

Ultradeep Pyrosequencing of Hepatitis C Virus Hypervariable Region 1 in Quasispecies Analysis

Kamila Caraballo Cortés | Osvaldo Zagordi | ... | Marek Radkowski
  • Special Issue
  • - Volume 2013
  • - Article ID 154073
  • - Research Article

Feasibility of a Microarray-Based Point-of-Care CYP2C19 Genotyping Test for Predicting Clopidogrel On-Treatment Platelet Reactivity

Hyojin Chae | Myungshin Kim | ... | Kiyuk Chang
  • Special Issue
  • - Volume 2013
  • - Article ID 164501
  • - Research Article

FISH Detection of PML-RARA Fusion in ins(15;17) Acute Promyelocytic Leukaemia Depends on Probe Size

Lynda J. Campbell | Paul Oei | ... | Peter Browett
  • Special Issue
  • - Volume 2013
  • - Article ID 391821
  • - Review Article

Molecular Genetics and Genetic Testing in Myotonic Dystrophy Type 1

Dušanka Savić Pavićević | Jelena Miladinović | ... | Stanka Romac
  • Special Issue
  • - Volume 2013
  • - Article ID 201372
  • - Research Article

TNNT2 Gene Polymorphisms Are Associated with Susceptibility to Idiopathic Dilated Cardiomyopathy in the Han Chinese Population

Xiaoping Li | Huan Wang | ... | Wei Hua
  • Special Issue
  • - Volume 2013
  • - Article ID 396272
  • - Research Article

Molecular and Survival Differences between Familial and Sporadic Gastric Cancers

Wen-Liang Fang | Shih-Ching Chang | ... | Shih-Hwa Chiou
  • Special Issue
  • - Volume 2013
  • - Article ID 346762
  • - Review Article

Implementation of High Resolution Whole Genome Array CGH in the Prenatal Clinical Setting: Advantages, Challenges, and Review of the Literature

Paola Evangelidou | Angelos Alexandrou | ... | Philippos C. Patsalis
  • Special Issue
  • - Volume 2013
  • - Article ID 489489
  • - Research Article

Detection of C. trachomatis in the Serum of the Patients with Urogenital Chlamydiosis

Naylia A. Zigangirova | Yulia P. Rumyantseva | ... | Ivan M. Petyaev
BioMed Research International
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