Advancing Healthcare
Through Data-Driven Insights

Getting to an Accurate Diagnosis and Treatment Path with Sema4’s Industry-leading and information-driven genomic and analytics solutions

Sema4 is a patient-centered health intelligence company that offers an extensive portfolio of solutions for the diagnosis, treatment, prevention, and management of a wide range of diseases, including those of the eye.

“Sema4’s mission to help physicians provide personalized medicine is built on our deep foundation in data science and our industry-leading genomic solutions. More information, deeper analysis, and increased longitudinal engagement of patients will ultimately improve the standard of care.”

—Eric Schadt, Founder and CEO, Sema4

Sema4 accessions more than 200,000 NGS tests annually in its state-of-the-art clinical labs in Connecticut. All NGS panels included in the tests are built on societal guidelines complemented by an exhaustive literature review and expert input from providers like you. By utilizing advanced testing technologies and multiple methods of analysis, Sema4 aims for the highest detection rate for every gene on the panel to better enable physicians to diagnose a patient and create better care opportunities for that patient.

View the brochure below to learn more about Sema4’s Comprehensive Vision Loss Panel covering 250 genes including those on the Retinal Disease Subpanel.

Sema4’s Comprehensive Vision Loss Panel

In general, there is a genetic basis for up to 60% of congenital blindness in infants. Indications for genetic testing for vision loss may include clinical status, treatment, and family risk.

Sema4’s Comprehensive Vision Loss Panel is a customizable targeted next-generation sequencing panel that is ideal for diagnostic testing of vision disorders due to the extreme locus heterogeneity and phenotype overlap of the genes involved. The panel offers 99% sensitivity for single-base substitutions.

The Comprehensive Vision Loss Panel includes 250 genes with four subpanels:

Sema4 is one of the few labs to offer testing for familial pathogenic/ likely pathogenic variants and research-based variants of uncertain significance (VUS) testing, at no additional charge, to assist in the clarification of their clinical significance.

To learn more about our comprehensive vision panel, specimen requirements, and ordering information, click here.


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