Test ID: TP53Z    
TP53 Gene, Li Fraumeni Syndrome, Full Gene Analysis, Varies

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.

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
• Informed Consent for Genetic Testing (Spanish)

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