Li-Fraumeni Syndrome (TP53) Deletion/Duplication (INACTIVE as of 05/15/17: Refer to 2009313)
Ordering Recommendation

This is a second tier test and REQUIRES PERMISSION from ARUP's Genetic Counselor (800-242-2787, x2141) before ordering. Preferred initial test is the combined sequencing and deletion/duplication test.

Multiplex Ligation-dependent Probe Amplification
Within 14 days
New York DOH Approval Status
This test is New York DOH approved.
ARUP Consult®
Disease Topics
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) 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: Less than 1 percent for individuals meeting classic Li-Fraumeni syndrome (LFS) criteria.
Methodology: 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.

Component Test Code*Component Chart NameLOINC
2009295Li-Fraumeni (TP53) DelDup Specimen
2009296Li-Fraumeni (TP53) 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.