PREVENTIONGENETICS INC.

Company Overview

Founded in 2004, PreventionGenetics Inc. uses its CLIA-certified laboratory to provide NGS and single-gene Sanger sequencing services to the clinical industry. The company performs NGS tests on the MiSeq instrument platform. MiSeq gives reliable results and fast turnaround, and all likely pathogenic mutations or undocumented variants are confirmed by Sanger sequencing.

PreventionGenetics incorporates Golden Helix’s NGS software analysis platform, VarSeq, in its PGxome test, which was launched in January 2017.

The PGxome whole exome sequencing test sequences the exomes of most of the genes in the human genome. The test is designed for people with unresolved genetic testing from karyotyping or microarray analysis; who have disorders with significant genetic heterogeneity; who have global developmental delay or exhibit dysmorphic features, multiple congenital anomalies or birth defects.

In June 2018, PreventionGenetics partnered with Inozyme Pharma, which focuses on NGS-based testing for mutations in two genes that are associated with rare, severe calcification disorders. Inozyme is developing drug treatments for these two disorders, ENPP1 deficiency and ABCC6 deficiency.

Company's Business Segments

• Product : Gene Sequencing Tests, Targeted Panels, Variant Analysis, DNA Banking, Others
• Service : PGnome Tests, PGxome Tests, PGmax Panels, Customized Testing, Others