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GTR Home > Tests > Li Fraumeni Syndrome

Overview

Test order codeHelp: Li Fraumeni Syndrome (p53)

Test name

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Li Fraumeni Syndrome (p53)

Purpose of the test

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

Condition

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Click Indication tab for more information.

How to order

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Please complete the requisition found on our website and sign and submit with the appropriate sample. See shipping instructions for further details
Order URL Help: http://www.lhsc.on.ca/palm/molecular/test.html#main-content

Specimen source

Amniocytes
Cell culture
Isolated DNA
Peripheral (whole) blood
White blood cell prep

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
  • Applied Biosystems 3730 capillary sequencing instrument
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina MiSeq/NextSeq
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina MiSeq/NextSeq
  • Applied Biosystems 3730 capillary sequencing instrument

Summary of what is tested

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Clinical utility

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Establish or confirm diagnosis

Predictive risk information for patient and/or family members

Clinical validity

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It is estimated that 80% of families with LFS will harbour an identifiable TP53 mutation.

Citations

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

Suggested reading

Practice guidelines

  • NICE, 2023
    UK NICE Clinical Guideline CG164, Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer, 2023

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.