GENEDX LLC

Company Overview

GeneDx LLC., part of Bio-Reference Laboratories (a subsidiary of Opko Health), markets clinical testing services for rare hereditary disorders, with a large number of tests using DNA sequencing technology.

GeneDx offers more than 20 diagnostic gene panels that use NGS platforms. Each test includes up to twenty genes. These tests provide 100% coverage of the indicated genes, with Sanger sequencing used for low-coverage areas or low-quality reads on NGS instruments. The company is developing lower-cost exome tests, which may miss up to 15% of the sequence and do not use Sanger sequencing.

GeneDx markets its XomeDx test, a clinical sequencing-based test that targets the market for undiagnosed or difficult to diagnose disorders. XomeDx is designed for individuals who have genetic diseases when other molecular diagnostics have failed to provide diagnoses.

The test runs on Illumina’s HiSeq instrument and uses targeted sequence capture. In addition to sequencing most of the exome (80% to 95%), the test sequences mitochondrial DNA and may also use array-based copy number variant analysis for individual cases. Variants discovered by the test will be verified with Sanger sequencing.

The software for interpreting the test data includes filtering variants according to the individual’s family history and the disease inheritance pattern. It will also include methods for identifying deletions that are missed by CNV microarrays.

GeneDx expanded the XomeDx Plus by adding the mitochondrial genome, which is sequenced on the MiSeq platform.

GeneDx markets several diagnostics for cancer applications, including: Breast/Ovarian Cancer Panel (analyzes 21 genes related to breast and ovarian cancer), Colorectal Cancer Panel (17 genes related to predisposition to colorectal cancer), Renal Cancer Panel (18 genes associated with autosomal dominant renal cancer risk), and Xpanded Hereditary Cancer Panel (all important genes associated with hereditary cancer).

In August 2020, GeneDx formed an alliance with Pediatrix Medical Group covering neonatal genomic services. GeneDx agreed to provide NGS in support of clinical diagnosis in neonatal intensive care units staffed with Pediatrix-affiliated neonatologists throughout the U.S. These services include whole-exome and whole-genome sequencing together with genomic support services under the brand Detect Genomix.

GeneDx is active in using exome sequencing platforms for neuromuscular diseases. The company teamed with researchers at Geisinger to show that exome sequencing achieved a diagnostic yield in cerebral palsy cases of nearly 33% in pediatric cases (cohort size of 1,345) and for adult cases (cohort size of 181), a diagnostic yield of about 10%. Larger cohort studies are planned that these data are important for incorporating genomic exome sequencing testing as a standard of care.

Financial Highlights (FY 2024)

Company's Business Segments

• Diagnostic Test Revenue : The company's revenue is derived from genetic and genomic diagnostic testing services.
• Other Revenue : The company also generates revenue from collaboration service agreements with biopharma companies and other third parties, under which they provide health information and patient identification support services.