Our Resources on Rare Disease Diagnosis, Testing & Support

For more information about any of these resources, Contact us.

Roadmap2Rare Infographic

Overview of sponsored services and tools for Canadian clinicians.

The sponsored Roadmap2Rare Diagnostic Program 60-gene hypertrophic cardiomyopathy panel.

The sponsored Roadmap2Rare Diagnostic Program 122-gene muscle disorders panel.

Full table of genes and disorders for the 60-gene Roadmap2Rare Hypertrophic Cardiomyopathy panel.

Full table of genes and disorders for the 122-gene Roadmap2Rare Muscle Disorders panel.

Complimentary Genetic Counselling offered by Metis Genetics through the Roadmap2Rare Diagnostic Program.

Information about the sponsored Roadmap2Rare Diagnostic Program, offered in collaboration with Revvity Omics (formerly PerkinElmer Genomics).

View the answers to the most common asked questions on the ordering and testing process.

A free tool to help clinicians build family trees following the identification of a Fabry proband patient.