Li-Fraumeni (TP53) Sequencing
Ordering Recommendation

Appropriate initial test for Li-Fraumeni  syndrome (LFS). Should not be used to detect somatic TP53 variants associated with malignancy. Not recommended for patients with a hematologic malignancy and/or who have undergone allogeneic stem cell transplantation.

Polymerase Chain Reaction/Sequencing
21-28 days
New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Unacceptable Conditions
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data
Background Information for Li-Fraumeni (TP53) Sequencing:
Predisposition for developing early-onset and multiple primary cancers, particularly soft tissue and bone sarcomas, adrenocortical carcinoma, brain tumors, premenopausal breast cancer, and other malignancies.
Prevalence: 1 in 5,000 - 1 in 20,000.
Inheritance: Autosomal dominant.
Penetrance: Approximately 50 percent by age 30 years and 90 percent by age 60 years.
Cause: Pathogenic germline mutations in the TP53 gene.
Clinical Sensitivity: Approximately 80 percent for individuals meeting classic Li-Fraumeni syndrome (LFS) criteria.
Methodology: Bidirectional sequencing of all coding regions and intron-exon boundaries of the TP53 gene.
Analytical Sensitivity and Specificity: Greater than 95 percent.
Limitations: TP53 gene regulatory region mutations, deep intronic mutations, and large deletions/duplications will not be detected. Diagnostic errors can occur due to rare sequence variations.

Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Hotline History
Component Test Code*Component Chart NameLOINC
2009303Li-Fraumeni (TP53) Sequencing Specimen
2009304Li-Fraumeni (TP53) Sequencing Interp
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