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Other Names for this Disease
- Antopol disease
- Glycogen storage cardiomyopathy
- Glycogen storage disease limited to the heart
- Glycogen storage disease type 2b (formerly)
- GSD2B (formerly)
Tests & Diagnosis
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
- Orphanet lists international laboratories offering diagnostic testing for this condition. Click here and scroll down the page to learn more about the processes of certification, accreditation, and external quality assessment available to these labs. Click on Orphanet to view the list.
- Meikle, et al. Newborn screening for lysosomal storage disorders: Clinical evaluation of a two-tier strategy. Pediatrics 2004;114:909-916.