Effect of Genetic Testing on Diagnosing Gastrointestinal Pediatric Patients with Previously Undiagnosed Diseases.

IF 2.6 Q2 GENETICS & HEREDITY Application of Clinical Genetics Pub Date : 2020-12-16 eCollection Date: 2020-01-01 DOI:10.2147/TACG.S275992

Eyad Altamimi, Mariam Khanfar, Omar Rabab'h, Zain Dardas, Luma Srour, Lina Mustafa, Bilal Azab

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引用次数: 1

Abstract

Purpose: 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.

Patients and methods: Members from four consanguineous Jordanian families were recruited in this study. Laboratory and imaging tests were used for initial diagnosis, followed by performing WES to test all affected members for the detection of causative variants. Sanger sequencing was used for validation.

Results: We had a 100% success rate identifying each case presented in this study.

Conclusion: This is the first study applying a WES testing approach in the diagnosis of pediatric diseases in Jordan. Our results strongly suggest the need to implement WES as an evident diagnostic tool in the clinical setting, as it will subsequently allow for proper disease management and genetic counseling.

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基因检测在胃肠道患儿既往未诊断疾病诊断中的作用

目的:本研究招募了4个患有未知胃肠道相关疾病的约旦近亲家庭，以评估全外显子组测序(WES)在最终诊断中的效用和效率。患者和方法:本研究招募了来自四个约旦近亲家庭的成员。实验室和影像学检查用于初步诊断，随后对所有受影响的成员进行WES检测，以发现致病变异。采用Sanger测序进行验证。结果:我们有100%的成功率确定在本研究中提出的每个病例。结论:这是首次在约旦应用WES检测方法诊断儿科疾病的研究。我们的研究结果强烈表明，有必要在临床环境中将WES作为一种明显的诊断工具，因为它随后将允许适当的疾病管理和遗传咨询。

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