U.S. flag

An official website of the United States government

GTR Home > Tests > Tuberous Sclerosis Panel

Overview

Test order codeHelp: ESPAN

Test name

Help

Tuberous Sclerosis Panel

Purpose of the test

Help

This is a clinical test intended for Help: Diagnosis

Condition

Help

Click Indication tab for more information.

How to order

Help

https://www.mayocliniclabs.com/test-catalog/Specimen/603346
Order URL Help: https://www.mayocliniclabs.com/order-tests/index.html

Specimen source

Peripheral (whole) blood

Methodology

Help
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

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

Help

Establish or confirm diagnosis

Citations
  • Nat Rev Dis Primers. 2016 May 26;2:16035 (PMID: 27226234)

Clinical validity

Help

Establish or confirm a diagnosis

Citations

Not provided

Test services

Help
  • Clinical Testing/Confirmation of Mutations Identified Previously, Order code: FMTT

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.