GTR Home > Tests > Li-Fraumeni Syndrome

Overview

Test name

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Li-Fraumeni Syndrome (TP53)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Pre-symptomatic, Risk Assessment

Condition

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1condition tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
DDeletion/duplication analysis
quantitative PCR
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3130XL
TTargeted variant analysis
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3130XL

Summary of what tested

1 genes and variants. Click Methodology tab for more information.

Genes and variants

Clinical validity

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Not provided

Clinical utility

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Not provided

How to order

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Please refer to the "INSTRUCTIONS FOR SAMPLE SUBMISSION" page in our paperwork.
Order URL Help: http://www.med.upenn.edu/genetics/gdl/Li-Fraumeni.shtml

Test services

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  • Prenatal and familial testing available for this test

Clinical resources

Practice guidelines

  • ACS, 2007
    American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography.

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.

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