Li-Fraumeni (TP53) Sequencing and Deletion/Duplication
Ordering Recommendation

Most comprehensive 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/Multiplex Ligation-dependent Probe Amplification
28-35 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: 2 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 and Deletion/Duplication:
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: 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; Multiplex Ligation-dependent Probe Amplification (MLPA) to detect large TP53 deletions/duplications.
Analytical Sensitivity and Specificity: Greater than 95 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations and deep intronic mutations will not be detected. Deletion/duplication breakpoints will not be determined.

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
2009314Li-Fraumeni (TP53) Seq, DelDup Spcm
2009315Li-Fraumeni (TP53) Seq, DelDup Interp
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