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GTR Home > Tests > Li Fraumeni Syndrome


Test order codeHelp: Li Fraumeni Syndrome (p53)

Test name


Li Fraumeni Syndrome (p53)

Purpose of the test


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



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Click Indication tab for more information.

How to order


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

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


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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Click Methodology tab for more information.

Clinical utility


Establish or confirm diagnosis

Predictive risk information for patient and/or family members

Clinical validity


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


Test services

  • 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.