U.S. flag

An official website of the United States government

GTR Home > Tests > Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800, Autosomal recessive; MDDGA4 (Muscle-eye-brain disease) (Prenatal) (MLPA)

Performance Characteristics

Availability

Help

  • Entire test performed in-house

Analytical Validity

Help

MLPA has greater than 99% sensitive for detecting deletion and duplication variants in case of more than one prob is in the affected area. Sensitivity reduces to 95% for the CNV's detected just one prob. Copy number changes detected by only a single probe always require validation by another method.

Citations

Not provided

Proficiency Testing (PT)

Is proficiency testing performed for this test? Help
No

FDA Regulatory Clearances of the Test

Help

Not provided

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.