Inherited Disease Testing and Genetic Disorders Research

Inherited genetic disorders affect millions of people globally and are caused by genetic defects. Patients are often affected at a very early age, with debilitating or fatal effects, and the disorders often affect many body systems. While some medical produres and treatments are available, they are usually painful, expensive, and only ameliorate some of the associated signs and symptoms without providing a cure. 

Researchers have traditionally relied on appearance and symptoms to understand the diseases, their causes and prevalence. Next-generation sequencing (NGS) has made it possible to sequence many patients to unravel the underlying mechanisms of genetic disorders, molecular characterize the disorders, and discover novel disease-associated variants. Amplicon-based targeted sequencing is an ideal approach that is cost-effective and easy to implement in the laboratory. The workflow is fast and simple to carry out, and the approach allows researchers to focus only on genes related to the disorder being investigated.

CleanPlex® NGS Panels – Versatile Solution for Genetic Disorders Research

Obtain Accurate, Reproducible, and Highest-Quality Results to Study Genetic Disorders

CleanPlex Custom NGS Panels are powered by Paragon Genomics’ CleanPlex Technology – an ultra-high multiplex PCR-based target enrichment technology for next-generation sequencing (NGS). It features a highly advanced proprietary primer design algorithm and an innovative, patented background cleaning chemistry.

Researchers pick targets or genes that they would like to interrogate, and our experts design and deliver the custom assays in complete kit format (input to sequencing-ready NGS libraries) in just 4 to 6 weeks. 

Osteogenesis Imperfecta
Temel Lab - Turkey

Prof. Sehime G. Temel‘s Lab at the Burs Uludag University in Turkey developed a 14-gene custom NGS assay powered by Paragon Genomics’ CleanPlex technology to study and characterize patients with osteogenesis imperfecta (brittle bone disease). DNA was extracted from peripheral blood for targeted library preparation. Variant detection was performed using SOPHiA GENETICS‘ genomic analysis platform. Using the combined solution from Paragon Genomics and SOPHiA GENETICS, the researchers were able to perform rapid molecular profiling and detect novel variants in Osteogenesis Imperfecta.

Free Custom Panel Consultation

High-Performance Targeted Sequencing Solution for Genetic Disorders Research

CleanPlex Custom NGS Panels offer excellent performance and high level of customization to help you build smarter NGS assays. To create a custom panel to study genetic disorder(s), schedule a free consultation below by entering your email address.

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