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首页> 外文期刊>Molecular Genetics & Genomic Medicine >Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing
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Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing

机译：Sanger测序诊断原发性高草酸尿症的性能评估并与靶向下一代测序进行比较

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AbstractDefinitive diagnosis of primary hyperoxaluria (PH) currently utilizes sequential Sanger sequencing of the AGXT, GRPHR, and HOGA1 genes but efficacy is unproven. This analysis is time-consuming, relatively expensive, and delays in diagnosis and inappropriate treatment can occur if not pursued early in the diagnostic work-up. We reviewed testing outcomes of Sanger sequencing in 200 consecutive patient samples referred for analysis. In addition, the Illumina Truseq custom amplicon system was evaluated for paralleled next-generation sequencing (NGS) of AGXT, GRHPR, and HOGA1 in 90 known PH patients. AGXT sequencing was requested in all patients, permitting a diagnosis of PH1 in 50%. All remaining patients underwent targeted exon sequencing of GRHPR and HOGA1 with 8% diagnosed with PH2 and 8% with PH3. Complete sequencing of both GRHPR and HOGA1 was not requested in 25% of patients referred leaving their diagnosis in doubt. NGS analysis showed 98% agreement with Sanger sequencing and both approaches had 100% diagnostic specificity. Diagnostic sensitivity of Sanger sequencing was 98% and for NGS it was 97%. NGS has comparable diagnostic performance to Sanger sequencing for the diagnosis of PH and, if implemented, would screen for all forms of PH simultaneously ensuring prompt diagnosis at decreased cost.
机译：摘要目前对原发性高草酸尿症（PH）的确定性诊断利用了AGXT，GRPHR和HOGA1基因的Sanger顺序测序，但疗效尚未得到证实。这种分析是耗时的，相对昂贵的，并且如果不尽早进行诊断工作，则会导致诊断延迟和不适当的治疗。我们复查了用于分析的200个连续患者样品中Sanger测序的测试结果。此外，对90名已知的PH患者中的AGXT，GRHPR和HOGA1的并行下一代测序（NGS）进行了Illumina Truseq定制扩增系统的评估。所有患者均需进行AGXT测序，可诊断出50％的PH1。其余所有患者均接受GRHPR和HOGA1的靶向外显子测序，其中8％被诊断为PH2，8％被诊断为PH3。 25％的转诊患者不要求GRHPR和HOGA1的完整测序，从而使诊断存疑。 NGS分析显示，Sanger测序符合98％，两种方法的诊断特异性均为100％。 Sanger测序的诊断敏感性为98％，而NGS的诊断敏感性为97％。 NGS在诊断PH方面具有与Sanger测序相当的诊断性能，如果实施，它将同时筛查所有形式的PH，从而确保以降低的成本进行快速诊断。

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