Daniel Laubitz, PhD - Next Generation Sequencing, - A Comprehensive Genetic Testing Approach - June 18
 

The emergence of next-generation sequencing (NGS) technology has revolutionized the fields of genetics and genomics. In medical genetics, NGS plays a pivotal role in identifying genetic variants responsible for rare inherited diseases. These variants encompass a spectrum of complexities, ranging from simple single-nucleotide variants (SNVs) or short insertions/deletions (indels) spanning up to several dozen base pairs, to more intricate forms such as complex chromosomal rearrangements (structural variants, SVs), and copy number variants (CNVs).

 

This methodology has significantly improved the diagnosis of genetic diseases by enabling rapid, high-throughput sequencing of DNA, particularly enhancing the identification of rare genetic diseases. Rapid and comprehensive sequencing for identifying disease-causing variants is paramount in improving disease management and designing effective therapies. Precision diagnosis in genetic diseases is challenging yet crucial, given the overlapping symptoms with multiple conditions, often leading to misdiagnosis and inappropriate treatment.

 

The PANDA Core for Genomics and Microbiome Research at the Steele Children’s Research Center, University of Arizona, stands as the first CLIA-certified laboratory in Arizona authorized to provide Next Generation Sequencing for diagnosing patients, primarily focusing on pediatric patients. The main goal of our Core is to bring the newest technology, which translates to the fastest and most accurate diagnostic tools, to all families in Arizona.