Supplementary testing after negative or inconclusive exome sequencing results

Balsam AlMaarik; Taghrid Aloraini; Roselyn Paclejan; Mohammed Balwi; Lamia Alsubaie; Abdulrahman Alswaid; Wafaa Eyiad; Fuad Al Mutairi; Faroug Ababneh; Majid Alfadhel; Ahmed A. Alfares

doi:10.24911/JBCGenetics/183-1659513785

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Original Article

Online Publishing Date:
28 / 03 / 2023

JBCGenetics. 2023; 6(1): 1-13

doi: 10.24911/JBCGenetics/183-1659513785

Supplementary testing after negative or inconclusive exome sequencing results

Balsam AlMaarik, Taghrid Aloraini, Roselyn Paclejan, Mohammed Balwi, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed A. Alfares.

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.

Key words: Exome sequencing, deletion duplication, methylation, mitochondrial genome, Saudi Arabia.

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Pubmed Style

AlMaarik B, Aloraini T, Paclejan R, Balwi M, Alsubaie L, Alswaid A, Eyiad W, Mutairi FA, Ababneh F, Alfadhel M, Alfares AA. Supplementary testing after negative or inconclusive exome sequencing results. JBCGenetics. 2023; 6(1): 1-13. doi:10.24911/JBCGenetics/183-1659513785

Web Style

AlMaarik B, Aloraini T, Paclejan R, Balwi M, Alsubaie L, Alswaid A, Eyiad W, Mutairi FA, Ababneh F, Alfadhel M, Alfares AA. Supplementary testing after negative or inconclusive exome sequencing results. https://www.jbcgenetics.com/?mno=95398 [Access: March 15, 2024]. doi:10.24911/JBCGenetics/183-1659513785

AMA (American Medical Association) Style

AlMaarik B, Aloraini T, Paclejan R, Balwi M, Alsubaie L, Alswaid A, Eyiad W, Mutairi FA, Ababneh F, Alfadhel M, Alfares AA. Supplementary testing after negative or inconclusive exome sequencing results. JBCGenetics. 2023; 6(1): 1-13. doi:10.24911/JBCGenetics/183-1659513785

Vancouver/ICMJE Style

AlMaarik B, Aloraini T, Paclejan R, Balwi M, Alsubaie L, Alswaid A, Eyiad W, Mutairi FA, Ababneh F, Alfadhel M, Alfares AA. Supplementary testing after negative or inconclusive exome sequencing results. JBCGenetics. (2023), [cited March 15, 2024]; 6(1): 1-13. doi:10.24911/JBCGenetics/183-1659513785

Harvard Style

AlMaarik, B., Aloraini, . T., Paclejan, . R., Balwi, . M., Alsubaie, . L., Alswaid, . A., Eyiad, . W., Mutairi, . F. A., Ababneh, . F., Alfadhel, . M. & Alfares, . A. A. (2023) Supplementary testing after negative or inconclusive exome sequencing results. JBCGenetics, 6 (1), 1-13. doi:10.24911/JBCGenetics/183-1659513785

Turabian Style

AlMaarik, Balsam, Taghrid Aloraini, Roselyn Paclejan, Mohammed Balwi, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, and Ahmed A. Alfares. 2023. Supplementary testing after negative or inconclusive exome sequencing results. Journal of Biochemical and Clinical Genetics, 6 (1), 1-13. doi:10.24911/JBCGenetics/183-1659513785

Chicago Style

AlMaarik, Balsam, Taghrid Aloraini, Roselyn Paclejan, Mohammed Balwi, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, and Ahmed A. Alfares. "Supplementary testing after negative or inconclusive exome sequencing results." Journal of Biochemical and Clinical Genetics 6 (2023), 1-13. doi:10.24911/JBCGenetics/183-1659513785

MLA (The Modern Language Association) Style

AlMaarik, Balsam, Taghrid Aloraini, Roselyn Paclejan, Mohammed Balwi, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, and Ahmed A. Alfares. "Supplementary testing after negative or inconclusive exome sequencing results." Journal of Biochemical and Clinical Genetics 6.1 (2023), 1-13. Print. doi:10.24911/JBCGenetics/183-1659513785

APA (American Psychological Association) Style

AlMaarik, B., Aloraini, . T., Paclejan, . R., Balwi, . M., Alsubaie, . L., Alswaid, . A., Eyiad, . W., Mutairi, . F. A., Ababneh, . F., Alfadhel, . M. & Alfares, . A. A. (2023) Supplementary testing after negative or inconclusive exome sequencing results. Journal of Biochemical and Clinical Genetics, 6 (1), 1-13. doi:10.24911/JBCGenetics/183-1659513785

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