Forms and Documents
- Molecular confirmation of a clinical diagnosis
- Testing of patients suspected of having a metabolic myopathy
- Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies.
- Next-Gen Sequencing
- Deletion/Duplication Analysis
- Berardo et al. (2010) Curr Neurol Neurosci Rep 10 (2):118-26 (PMID: 20425236)
- Wanders et al. (2010) Journal Of Inherited Metabolic Disease 33 (5):479-94 (PMID: 20490924)