To date, there is no laboratory in Canada testing for Barth syndrome, to find the closest lab:
- Go to https://www.ncbi.nlm.nih.gov/gtr/
- Type “Barth syndrome” (with quotation marks) in the “Conditions/Phenotypes” search box, and press the search button
- Click on the Testing link associated with Barth syndrome [3-Methylglutaconic Aciduria Type II]
- You can select one or all laboratories to learn more about methods and details of each laboratory
While there is no cure or specific treatment for Barth syndrome yet, there are many benefits of an accurate diagnosis:
- Saves lives and improves quality of life.
- Provides families and healthcare providers with an appreciation of the complexities and health risks of all components of the disorder, thereby yielding better outcomes for the affected individual.
- Provides families and healthcare providers an opportunity to access data pertaining specifically to Barth syndrome.
- Provides families the opportunity for family planning.
- Provides families and educators the opportunity to develop individualized educational planning.
- Provides families and healthcare providers the opportunity to an informed approach to care, significantly reducing contra-indicated treatment risks.