Open AccessEffect of Genetic Testing on Diagnosing Gastrointestinal Pediatric Patients with Previously Undiagnosed Diseases
Author(s) -
Eyad Altamimi,
Mariam Khanfar,
Omar Rabab’h,
Zain Dardas,
Luma Srour,
Lina Mustafa,
Belal Azab
Publication year - 2020
Publication title -
application of clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.879
H-Index - 32
ISSN - 1178-704X
DOI - 10.2147/tacg.s275992
Subject(s) - medicine , genetic testing , exome sequencing , genetic counseling , sanger sequencing , diagnostic test , disease , pediatrics , bioinformatics , dna sequencing , pathology , mutation , genetics , biology , gene
Four consanguineous Jordanian families with affected members of unknown gastrointestinal related diseases were recruited to assess the utility and efficiency of whole exome sequencing (WES) in reaching the definitive diagnosis.