A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care

Christoph Heinrich Lindemann,Andrea Wenzel,Florian Erger, Lea Middelmann,Julika Borde,Eric Hahnen, Denise Krauß,Simon Oehm,Sita Arjune,Polina Todorova,Kathrin Burgmaier,Max Christoph Liebau,Franziska Grundmann,Bodo B Beck,Roman-Ulrich Müller

Kidney International Reports（2023）

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摘要

The MPP yields rapid genotype information at lower costs and allows for simple extension of the panel for new disease genes. Additional sequencing of the pseudogene homologous region is required in negative cases. Access to genotype information even in settings with limited resources is important to allow for optimal patient counseling in ADPKD.

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关键词

ADPKD,CKD,next generation sequencing,PKD,Sanger sequencing

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