Feedback
Li-Fraumeni (TP53) Sequencing and Deletion/Duplication
2009313
Ordering Recommendation

Most comprehensive test for Li-Fraumeni  syndrome (LFS).

Mnemonic
TP53 FGA
Methodology
Polymerase Chain Reaction/Sequencing/Multiplex Ligation-dependent Probe Amplification
Performed
Varies
Reported
28-35 days
New York DOH Approval Status
This test is New York DOH approved.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 2 mL) 
Storage/Transport Temperature
Refrigerated. 
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data
Background Information for Li-Fraumeni (TP53) Sequencing and Deletion/Duplication:
Characteristics:
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: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
CPT Code(s)
81479; 81405
Components
Component Test Code*Component Chart NameLOINC
2009314Li-Fraumeni (TP53) Seq, DelDup Spcm
2009315Li-Fraumeni (TP53) Seq, DelDup Interp
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases