Original Article
Volume: 6 | Issue: 1 | Published: Mar 28, 2023 | Pages: 1 - 13 | DOI: 10.24911/JBCGenetics/183-1659513785
Supplementary testing after negative or inconclusive exome sequencing results
Authors: Balsam AlMaarik , Taghrid Aloraini , Roselyn Paclejan , Mohammed Balwi , Lamia Alsubaie , Abdulrahman Alswaid , Wafaa Eyiad , Fuad Al Mutairi , Faroug Ababneh , Majid Alfadhel , Ahmed A. Alfares
Article Info
Authors
Balsam AlMaarik
Molecular Genetic Pathology Unit, Pathology Department, King Saud University, Riyadh, Saudi Arabia, Division of Translational Pathology, Department of Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia
Taghrid Aloraini
Division of Translational Pathology, Department of Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia,King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
Roselyn Paclejan
Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia,King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
Mohammed Balwi
Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia,King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
Lamia Alsubaie
Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia,King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
Abdulrahman Alswaid
Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia,King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
Wafaa Eyiad
Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia,King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
Fuad Al Mutairi
Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia,King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
Faroug Ababneh
Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia,King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
Majid Alfadhel
Division of Translational Pathology, Department of Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia,King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia,Department of Pediatrics, College of Medicine, Qassim University, Qassim, Saudi Arabia.
Ahmed A. Alfares
Molecular Genetic Pathology Unit, Pathology Department, King Saud University, Riyadh, Saudi Arabia
Publication History
Received: August 04, 2022
Revised: February 01, 2023
Accepted: February 08, 2023
Published: March 28, 2023
Abstract
Background: Accurate diagnosis benefits patients and their families by directing clinical management; predicting recurrence risks; providing prognosis; and preventing the invasive, time-consuming, and costly diagnostic odyssey. The present study aimed at evaluating the usefulness and clinical utility of supplementary testing (deletion/duplication, targeted genome methylation analysis, and whole mitochondrial genome testing) after inconclusive or negative exome results and the outcome of the supplementary testing. Methods: A total of 3,505 clinical exome sequencing results were evaluated, and cases with supplementary testing were analyzed for the accuracy and validity of the supplementary testing. Results: The present study cohort comprised 26 cases where supplementary testing was ordered (12 inconclusive results and 14 negative results). Out of the 12 inconclusive results, only one case was positive for supplementary testing (1/12) and none of the negative cases (0/14). Conclusion: For most cases, supplementary testing to negative exome sequencing failed to identify any possible explanation of the disorder, concluding that supplementary testing has limited clinical utility.
Keywords: Exome sequencing, deletion duplication, methylation, mitochondrial genome, Saudi Arabia
Pubmed Style
Balsam AlMaarik, Taghrid Aloraini, Roselyn Paclejan, Mohammed Balwi, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed A. Alfares. Supplementary testing after negative or inconclusive exome sequencing results. JBC Genetics. 2023; 28 (March 2023): 1-13. doi:10.24911/JBCGenetics/183-1659513785
Web Style
Balsam AlMaarik, Taghrid Aloraini, Roselyn Paclejan, Mohammed Balwi, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed A. Alfares. Supplementary testing after negative or inconclusive exome sequencing results. https://www.jbcgenetics.com/index.php/articles/2077 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1659513785
AMA (American Medical Association) Style
Balsam AlMaarik, Taghrid Aloraini, Roselyn Paclejan, Mohammed Balwi, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed A. Alfares. Supplementary testing after negative or inconclusive exome sequencing results. JBC Genetics. 2023; 28 (March 2023): 1-13. doi:10.24911/JBCGenetics/183-1659513785
Vancouver/ICMJE Style
Balsam AlMaarik, Taghrid Aloraini, Roselyn Paclejan, Mohammed Balwi, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed A. Alfares. Supplementary testing after negative or inconclusive exome sequencing results. JBC Genetics. (2023), [cited April 27, 2025]; 28 (March 2023): 1-13. doi:10.24911/JBCGenetics/183-1659513785
Harvard Style
Balsam AlMaarik, Taghrid Aloraini, Roselyn Paclejan, Mohammed Balwi, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed A. Alfares (2023) Supplementary testing after negative or inconclusive exome sequencing results. JBC Genetics, 28 (March 2023): 1-13. doi:10.24911/JBCGenetics/183-1659513785
Chicago Style
Balsam AlMaarik, Taghrid Aloraini, Roselyn Paclejan, Mohammed Balwi, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed A. Alfares. "Supplementary testing after negative or inconclusive exome sequencing results." 28 (2023), 1-13. doi:10.24911/JBCGenetics/183-1659513785
MLA (The Modern Language Association) Style
Balsam AlMaarik, Taghrid Aloraini, Roselyn Paclejan, Mohammed Balwi, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed A. Alfares. "Supplementary testing after negative or inconclusive exome sequencing results." 28.March 2023 (2023), 1-13. Print. doi:10.24911/JBCGenetics/183-1659513785
APA (American Psychological Association) Style
Balsam AlMaarik, Taghrid Aloraini, Roselyn Paclejan, Mohammed Balwi, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed A. Alfares (2023) Supplementary testing after negative or inconclusive exome sequencing results. , 28 (March 2023), 1-13. doi:10.24911/JBCGenetics/183-1659513785