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.

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

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.

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