Sign in →

Test ID: TP53Z TP53 Gene, Li Fraumeni Syndrome, Full Gene Analysis, Varies

Useful For

Confirmation of suspected clinical diagnosis of Li-Fraumeni syndrome or Li-Fraumeni-like syndrome

 

Identification of familial TP53 variant to allow for predictive testing in family members

 

Predictive testing of an asymptomatic child is not recommended.

Additional Tests

Test ID Reporting Name Available Separately Always Performed
COLAB Hereditary Colon Cancer CGH Array Yes, (order FMTT) Yes

Testing Algorithm

When this test is ordered, comparative genomic hybridization array will always be performed at an additional charge.

 

See TP53 Mutation Testing Analysis in Special Instructions.

Method Name

Polymerase Chain Reaction (PCR) Amplification followed by DNA Sequencing

 

COLAB: Gene Dosage Analysis by Array Comparative Genomic Hybridization (aCGH)

Reporting Name

TP53 Gene, Full Gene Analysis

Specimen Type

Varies


Ordering Guidance


This test is not appropriate for evaluation of somatic TP53 alterations. To evaluate for the presence of somatic TP53 alterations for diagnostic or prognostic purposes in patients with chronic lymphocytic leukemia, see P53CA / Hematologic Neoplasms, TP53 Somatic Mutation, DNA Sequencing Exons 4-9, Varies.



Shipping Instructions


Specimen preferred to arrive within 96 hours of collection.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Clinical Information

Li-Fraumeni syndrome (LFS) is a rare autosomal dominant hereditary cancer syndrome associated with germline variants in the TP53 (also p53) gene. LFS is predominantly characterized by sarcoma (osteogenic, chrondrosarcoma, rhabdomyosarcoma), young-onset breast cancer, brain cancer (glioblastoma), hematopoietic malignancies, and adrenocortical carcinoma in affected individuals. LFS is highly penetrant; the risk for developing an invasive cancer is 50% by age 30 and 90% by age 70 with many individuals developing multiple primary cancers. Childhood cancers are also frequently observed and typically include soft-tissue sarcomas, adrenocortical tumors, and brain cancer. Other reported malignancies include melanoma, Wilms tumor, kidney tumors, gonadal germ cell tumor, pancreatic cancer, gastric cancer, choroid plexus cancer, colorectal cancer, prostate cancer, endometrial cancer, esophageal cancer, lung cancer, ovarian cancer, and thyroid cancer.

 

There are published criteria for the use in establishing a clinical diagnosis of classic Li-Fraumeni syndrome and Li-Fraumeni-like (LFL) syndrome that include the above features listed. A larger percentage of families that meet the classic LFS criteria are predicted to have a detectable variant within the TP53 gene than families that meet the less strict LFL criteria (Birch's and Eeles' definitions).

Reference Values

An interpretive report will be provided.

Interpretation

All detected alterations are evaluated according to American College of Medical Genetics and Genomics recommendations.(1) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-424

2. Lindor NM, McMaster ML, Lindor CJ, Greene MH, National Cancer Institute, Division of Cancer Prevention, Community Oncology and Prevention Trials Research Group:: Concise handbook of familial cancer susceptibility syndromes - second edition. J Natl Cancer Inst Monogr. 2008;(38):1-93

3. Masciari S, Syngal S: The role of p53 in colorectal cancer. In: Potter JD, Lindor NM, eds. Genetics of Colorectal Cancer. Springer. 2009;213-217

4. Schneider K, Zelley K, Nichols KE, et al: Li-Fraumeni syndrome. In: Adam MP, Ardinger HH, Pagon RA, eds. GeneReviews (Internet). University of Washington, Seattle; 1999. Updated November 21, 2019. Accessed August 12, 2020. Available at www.ncbi.nlm.nih.gov/books/NBK1311/

Day(s) Performed

Performed weekly

Report Available

14 to 20 days

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81351

 

Hereditary Colon Cancer CGH Array, additional test

81228

LOINC Code Information

Test ID Test Order Name Order LOINC Value
TP53Z TP53 Gene, Full Gene Analysis 94217-7

 

Result ID Test Result Name Result LOINC Value
52544 Result Summary 50397-9
52545 Result 82939-0
52546 Interpretation 69047-9
52547 Additional Information 48767-8
52548 Specimen 31208-2
52549 Source 31208-2
52550 Array Billed? No LOINC Needed
52551 Released By 18771-6

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Molecular Genetics: Inherited Cancer Syndromes Patient Information (T519) in Special Instructions

Mayo Clinic Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

mml-inherited-molecular