Rationale and Comments

Genetic testing is now widely available and can be ordered directly by patients from home. Due to the potential implications of test results and the complexity of testing, patients are advised to speak with their physician or genetic counselor prior to having testing performed. Pretesting counseling will help patients select appropriate testing, understand the limitations of testing, potential out-of-pocket costs, and the effect that positive test results may have on the patient and their family.

Sponsoring Organizations

• American Association of Neuromuscular & Electrodiagnostic Medicine

Sources

• Expert consensus

Disciplines

• Genetic
• Neurologic

References

• AANEM Position Statement. The utility of genetic testing in neuromuscular disease: a consensus from the AANEM on the clinical usefulness of genetic testing in the diagnosis of neuromuscular disease. April 2016.
  
• ACMG Board of Directors. Genet Med. 2015, Dec; 18:207-208, advance online publication, Dec 17, 2015; doi:10.1038/gim.2015.190.