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.

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.
Specimen Required
Patient Preparation
Collect

Lavender (K2EDTA), 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: 1 week; Refrigerated: 1 month; Frozen: 6 months

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. This assay is not designed to detect somatic variants associated with malignancy. Interpretation of this test result may be impacted if the patient has had an allogeneic stem cell transplantation.

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.

Note
Hotline History
N/A
CPT Codes

81479; 81405

Components
Component Test Code* Component Chart Name LOINC
2009314 Li-Fraumeni (TP53) Seq, DelDup Spcm
2009315 Li-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
Li-Fraumeni (TP53) Sequencing and Deletion/Duplication