Current Issue: 2019  Archive: 2018   2017  

Special Issue

Genetic Testing

Submission Deadline: April 1, 2019 (Open)                Submit Now

Guest Editor

Joep Geraedts, PhD
Emeritus Professor of Genetics and Cell Biology, Maastricht University, P.O. Box 616, 6200 MD Maastricht, the Netherlands
E-Mails: [email protected]; [email protected]
Research Interests: reproductive genetics; cancer genetics; preimplantation genetic diagnosis; genetic testing; evolution, etc

About This Topic

The special issue genetic testing will cover a broad range of activities, which can be divided in the following types of testing: genealogical, forensic and medical. Furthermore, genetic testing is done in both humans and animals. In this special issue attention will be paid to the methods used. Finally, also the ethical and legal aspects will be covered.
Genealogical testing is done to determine ancestral ethnicity and relationships. Many companies are offering these tests. Based on a saliva sample ancestral information, including Neanderthal ancestry is reported.
Forensic DNA testing in humans can be applied among others to test suspects of crime but also for identification purposes of missing persons, crime victims or in case of adoption. Y chromosomal haplotyping is employed in paternity disputes.
In wildlife forensic testing is used to determine illegal trade in protected and endangered species or to trace the geographic origin or the species of a sample.
Medical genetic testing is done before, during and after pregnancy to identify chromosomal mutations and single gene disorders. Testing can be done for screening, diagnosis, and prognosis of diseases consistent with a genetic cause and to guide drug therapy to improve drug efficacy and avoid adverse effects (pharmacogenomics).
All medical genetic testing should be voluntary. Therefore, this special issue will devote attention to risks, complications and counselling aspects as well.

Planned Papers

Title: Fetal dysmorphology in the Genomic Era – A practical approach.
Author: Margaret Evans

Title: A multifactorial test for predisposition to melanoma integrating genetic and clinical risk factors in daily clinical practice
Authors: Meriem Benfodda, Steven Gazal, Vincent Descamps, Nika Madjlessi, Celeste Lebbe, Nicole Basset-Seguin, Alain Archimbaud, Kristina Opletalova, Valerie Vuong, Caroline Nicaise ergere, Sandrine Massart-Manil, Bruno Machuel, Anne Grange, Philippe Saiag, Nicolas Dupin, Pierre Wolkenstein, Armand Bensussan, Eduardo Nagore, Rajiv Kumar, Florent Grange, Nadem Soufir

Title: Preimplantation Genetic Testing for HLA-matching: an overview of clinical application and utility
Authors: Georgia Kakourou, Thalia Mama, Christina Vrettou, Jan Traeger-Synodinos

Title: Genetic testing of infertility
Author: Joep Geraedts

Title: Evolution of genetic testing in agro-food chains
Author: Giandomenico Corrado

Title: Candidate gene, population association studies in the genetic epidemiology of common diseases and complex traits
Author: Susana David


Case Report

Diagnosis of Fetal Kabuki Syndrome By Exome Sequencing Following Non-Specific Ultrasound Findings

Hagit Daum, Simcha Yagel, Mordechai Shohat
Received: March 11, 2019; Published: May 15, 2019; doi:10.21926/obm.genet.1902077