Spinobulbar Musc Atrophy, Kennedy's

Performance Characteristics

• Entire test performed in-house

Accuracy ≥ 99%

For predictive testing, it is important to first document the presence of a CAG-repeat amplification in the androgen receptor (AR) gene in an affected family member to confirm that molecular expansion is the underlying mechanism of disease in the family. We strongly recommend that patients undergoing predictive testing receive genetic counseling both prior to testing and after results are available. Predictive testing of an asymptomatic child is not recommended. Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete.. Current evidence suggests that the majority of individuals with spinobulbar muscular atrophy (SBMA) have a CAG-repeat expansion. However, we cannot eliminate the possibility that another type of mutation not detected by our assay is present within the AR gene.

Is proficiency testing performed for this test? HelpWhether the test undergoes periodic internal or external evaluation of the accuracy of test results. Lab-provided.

Yes

Method used for proficiency testingHelpMethod used for external or internal evaluation of the accuracy of test results. Lab-provided.

Platform PT performed

FDA Category Designation

FDA exercises enforcement discretion