Our Resources on Rare Disease Diagnosis, Testing & Support
For more information about any of these resources, Contact us.


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.

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

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

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

Your Roadmap2Rare questions answered
View the answers to the most common asked questions on the ordering and testing process.

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