U.S. flag

An official website of the United States government

GTR Home > Tests > Inherited Metabolic Disorders Panel

Performance Characteristics



  • Entire test performed in-house

Analytical Validity


>99% (95% CI) for base substitutions and small indels, and >95% (95% CI) for CNV. Balanced translocations, inversions and intronic variants located outside splice site shall not be detected.


Not provided

Proficiency Testing (PT)

Is proficiency testing performed for this test? Help

FDA Regulatory Clearances of the Test

FDA Category Designation
Not Applicable

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.