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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



5 conditions tested. Click Indication tab for more information.


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
ESequence analysis of select exons
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3730 capillary sequencing instrument
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina MiSeq/NextSeq

Summary of what is tested

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


Clinical validity


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


Clinical utility


Not provided

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:

Test services

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

Practice guidelines

  • ASCO, 2014
    American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.
  • ACS, 2007
    American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography.

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