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Test ID: P53KM    
TP53 Gene, Known Mutation

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.

Conditional

Useful For Suggests clinical disorders or settings where the test may be helpful

Diagnostic testing of individuals with suspected diagnosis of Li-Fraumeni syndrome or Li-Fraumeni-like syndrome when a mutation in the TP53 gene has been identified in an affected family member

 

Predictive testing of at-risk individuals when a mutation in the TP53 gene has been identified in an affected family member

Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request

Documentation of the specific familial mutations must be provided with the specimen in order to perform this test.

 

This test evaluates for the presence of germline TP53 mutations associated with Li Fraumeni syndrome. To test for a familial large deletion or duplication, order SDEL / Single-Gene Large Deletion and Duplication Analysis. Contact Mayo Medical Laboratories at 800-533-1710 for testing recommendations.

 

For patients with a history of hematologic malignancy and/or bone marrow transplant, consultation with the laboratory is required prior to submitting a specimen. 

 

Note: This test is not appropriate for evaluation of somatic TP53 mutations. To evaluate for the presence of somatic TP53 mutations for diagnostic or prognostic purposes in patients with chronic lymphocytic leukemia, see P53CA / Hematologic Neoplasms, TP53 Somatic Mutation, DNA Sequencing Exons 4-9.

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

Method Name A short description of the method used to perform the test

Polymerase Chain Reaction (PCR) Amplification Followed by DNA

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

TP53 Gene, Known Mutation

Aliases Lists additional common names for a test, as an aid in searching

TP53
TRP53
Li-Fraumeni
Li-Fraumeni syndrome
LFS
Li-Fraumeni-like
Li-Fraumeni-like syndrome
LFL
SBLA
SBLA syndrome