RareDx Program

Helping End the Diagnostic Odyssey

Clinical whole genome sequencing (WGS) has the power to change the lives of undiagnosed rare disease patients and their families right now. With its ability to evaluate a wider range of variants than any other type of NGS test it is uniquely capable of identifying the underlying cause of a genetic condition. Yet many patients are stuck in years-long diagnostic odysseys without access to this type of testing. Insurance coverage practices are slowly changing, but many patients remain uncovered and unable to afford the out-of-pocket costs.

RareDx program


What is the RareDx program?

With the RareDx program, we aim to end the diagnostic odyssey for these patients. We are committed to providing clinical WGS testing for a minimum of 12 patients each year. Through our efforts we aim to further raise awareness of the benefits of clinical WGS testing and to spur changes in insurance coverage.

Who is eligible for the program?

Clinicians are encouraged to apply on behalf of pediatric or adolescent patients whose clinical symptoms are believed to have a genetic etiology and whose families do not have the financial means to pay for this testing. Submitted applications will be reviewed quarterly by our clinical team to determine which cases will be accepted.

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