Resources

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

Roadmap2Rare Infographic

Overview of sponsored services and tools for Canadian clinicians.

Roadmap2Rare Cardiomyopathy Brochure

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

Roadmap2Rare Muscle Disorders Brochure

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

Roadmap2Rare Diagnostic Overview

Information about the sponsored Roadmap2Rare Diagnostic Program, offered in collaboration with PerkinElmer Genomics.

Genes and Disorders

Full table of genes and disorders

Fabry Find Tool

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