Test ID: TP53Z    
TP53 Gene, Full Gene Analysis

Confirmation of suspected clinical diagnosis of Li-Fraumeni syndrome or Li-Fraumeni-like syndrome

Identification of familial TP53 mutation to allow for predictive testing in family members

This test evaluates for the presence of germline TP53 mutations associated with Li Fraumeni syndrome. 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

When this test is ordered, comparative genomic hybridization array will always be performed at an additional charge.

See TP53 Mutation Testing Analysis in Special Instructions.

• Molecular Genetics: Inherited Cancer Syndromes Patient Information
• Informed Consent for Genetic Testing
• TP53 Mutation Testing Algorithm

Polymerase Chain Reaction (PCR) Amplification Followed by DNA Sequencing and Gene Dosage Analysis by Array Comparative Genomic Hybridization (aCGH)