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GTR Home > Tests > Tuberous Sclerosis Panel

Performance Characteristics

Availability

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  • Entire test performed in-house

Analytical Validity

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Analytical sensitivity, specificity, and accuracy are ≥ 99%

Citations

Not provided

Assay Limitation(s)

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Clinical Correlations: Some individuals who are a carrier or have a diagnosis of an epilepsy or seizure disorder may have a mutation that is not identified by the methods performed (eg, promoter mutations or deep intronic mutations). The absence of a mutation, therefore, does not eliminate the possibility of a hereditary epilepsy or seizure disorder. For predictive testing of asymptomatic individuals, it is important to first document the presence of a gene mutation in an affected family member. Test results should be interpreted in context of clinical findings, family history, and other laboratory data. Misinterpretation of results may occur if the information provided is inaccurate or incomplete. Technical Limitations: In some cases, DNA variants of undetermined significance may be identified. Due to the limitations of next-generation sequencing, small deletions and insertions may not be detected by this test. If a diagnosis of one of the syndromes on this panel is still suspected, contact a molecular genetic counselor in the Genomics Laboratory at 800-533-1710 for more information regarding follow-up testing options. Rare polymorphisms exist that could lead to false-negative or false-positive results. If results obtained do not match the clinical findings, additional testing should be considered. In addition to disease-related probes, the multiplex ligation-dependent probe amplification technique utilizes probes localized to other chromosomal regions as internal controls. In certain circumstances, these control probes may detect other diseases or conditions for which this test was not specifically intended. Results of the control probes are not normally reported. However, in cases where clinically relevant information is identified, the ordering physician will be informed of the result and provided with recommendations for any appropriate follow-up testing. A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant. Evaluation Tools: Multiple in-silico evaluation tools were used to assist in the interpretation of these results. These tools are updated regularly; therefore, changes to these algorithms may result in different predictions for a given alteration. Additionally, the predictability of these tools for the determination of pathogenicity is currently not validated. Alterations classified as benign (common polymorphisms) and known pseudodeficiency alleles are not reported but are available upon request. Known pseudodeficiency alleles may lead to false-positive biochemical results, do not cause disease, and will only be reported when identified with a reportable alteration in the same gene. Reclassification Of Variants-Policy: All detected alterations are evaluated according to American College of Medical Genetics and Genomics recommendations.(1) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance. At this time, it is not standard practice for the laboratory to systematically review "likely pathogenic" alterations or "variants of uncertain significance" that are detected and reported. The laboratory encourages health care providers to contact the laboratory at any time to learn how the status of a particular variant may have changed over time.

Proficiency Testing (PT)

Is proficiency testing performed for this test? Help
Yes
Method used for proficiency testingHelp
Formal PT program
PT ProviderHelp
American College of Medical Genetics / College of American Pathologists, ACMG/CAP

FDA Regulatory Clearances of the Test

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FDA Category Designation
FDA exercises enforcement discretion

Practice guidelines

  • ACMG, 2013
    Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
  • Orphanet, 2007
    Orphanet, Tuberous sclerosis, 2007

Consumer resources

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.