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GTR Home > Tests > Tuberous Sclerosis Gene Panel

Overview

Test order codeHelp: TSCP

Test name

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Tuberous Sclerosis Gene Panel (TSCP)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Pre-symptomatic, Predictive

Condition

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Click Indication tab for more information.

How to order

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https://www.mayocliniclabs.com/test-catalog/overview/616537#Specimen
Order URL Help: https://www.mayocliniclabs.com/order-tests/index.html

Specimen source

Amniotic fluid
Cell culture
Chorionic villi
Dried blood spot (DBS) card
Fibroblasts
Peripheral (whole) blood
Saliva
Skin

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina NovaSeq 6000
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina NovaSeq 6000

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

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Establish or confirm diagnosis

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

Clinical validity

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Not provided

Test services

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  • 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.