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GTR Home > Tests > Tuberous Sclerosis Panel

Methodology

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Other
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina HiSeq 2500

Test development

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Test developed by laboratory (no manufacturer test name)

Test procedure

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Next-generation sequencing (NGS) and/or Sanger sequencing is performed to test for the presence of a mutation in all coding regions and intron/exon boundaries and to test for the presence of large deletions and duplications in the TSC1 and TSC2 genes. Sanger sequencing is used to confirm alterations detected by NGS when appropriate.

Citations

Not provided

Confirmation of results

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Positive results are confirmed when appropriate.

Genes

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.