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Case Study: High-Quality, Cost-Effective Genomic Testing and Genetic Profiling using NGS

In a recent case study interview, pathologist Federico Jauk, head of the Sequencing Laboratory at the Hospital Italiano de Buenos Aires (HIBA) in Argentina shares how his lab utilizes NGS and Oncomine assays for cost effective genomic testing. The lab specializes in both Sanger sequencing and next-generation sequencing (NGS), providing services to several departments within the hospital, as well as performing its own in-lab tests.


Federico Jauk, MD
Pathologist specializing in molecular pathology
Head of the Sequencing Laboratory
Hospital Italiano de Buenos Aires (HIBA) in Argentina

Dr. Jauk details the key criteria for his lab’s test choices, including cost-effectiveness, rapid turnaround time, and the ability to sync with their current workflows and platforms.

Their lab has utilized the Ion Torrent™ PGM™ system for 6 years and the Ion GeneStudio™ S5 Plus System for 2 years so they were accustomed to the workflow and to quick turnaround times. They also had been using Ion AmpliSeq™ and Ion Torrent™ Oncomine™ panels for a couple of years. Their current inhouse tests for precision oncology research include the Ion Torrent Oncomine BRCA Research Assay, a custom Ion AmpliSeq panel for CFTR, and the Oncomine Myeloid Assay.

Dr. Jauk and his team leaned into the expert analytical validation (AV) consultants at Thermo Fisher for assistance with project management for analytical validation of the Ion Torrent Oncomine Focus Assay for oncology research and have since added this assay to their offerings.


“The Thermo Fisher AV team have a practical view and provide project management services that helps save time and money when analytically validating tests. The interaction between our group and the AV team was mutually beneficial—we could understand each other and focus on the AV process considering the shortcomings of the region.” - Dr. Jauk


Not only has inhouse NGS improved the way they provide genomic data, but it’s proven more affordable than outsourcing. In fact, revenue has increased and the lab has become a bigger player in NGS testing.

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For Research Use Only. Not for use in diagnostic procedures.


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Thermo Fisher Scientific Staff
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Thermo Fisher Scientific Staff

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