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Test Code TP53 UM Li-Fraumeni Syndrome Via the TP53 Gene

Clinical System Name

Li-Fraumeni Syndrome Via the TP53 Gene Sequencing

Synonyms

Li-Fraumeni Syndrome

Description

Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with the development of the following classic tumors: soft tissue sarcoma, osteosarcoma, pre-menopausal breast cancer, brain tumors, adrenocortical carcinoma (ACC), and leukemias. In addition, a variety of other neoplasms may occur. LFS-related cancers often occur in childhood or young adulthood and survivors have an increased risk for multiple primary cancers.

 

LFS is diagnosed in individuals meeting established clinical criteria or in those who have a germline pathogenic variant in TP53 regardless of family cancer history. At least 70% of individuals diagnosed clinically have an identifiable germline pathogenic variant in TP53, the only gene so far identified in which mutation is definitively associated with LFS.

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender Top/EDTA, Yellow/ACD

Preferred Vol: 5 mL

Minimum Vol: 2 mL

 

Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol: 15μg at a concentration of 20 μg/ml

Minimum Vol:

 

Notes: DNA may be shipped at room temperature.Label the tube with the DNA concentration as well as the patient name, date of birth, and/or ID number.  Specify the composition of the solute.

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2-8 C

Storage location: Refrigerate blood in CPA refrigerator Sendouts rack.

 

Off-site collection: Send whole blood refrigerated.

Stability

Specimen Type Temperature Time
Whole blood Room temp 48 h
Whole blood Refrigerated 7 d
Whole blood Frozen N
Extracted DNA Room temp 3-4 d
Extracted DNA Refrigerated 1 y
Extracted DNA Frozen Indefinitely

 

Availability

STAT TAT
N 2-3 w (Max 30 d)

 

Performing Laboratory

PreventionGenetics

Department

Department:  Prevention Genetics, 3700 Downwind Dr, Marshfield, WI 54449

Phone Number: (715) 387-0484

 

Reference Range

Interpretive report is provided.

Methodology

Method: Bi-Directional Sanger Sequencing

Analytical Volume:

Limitations:

CPT Codes

81405x1     (updated 8/3/2015 by sstasi) 

Clinical Utility

Testing is indicated for individuals who do not meet clinical criteria for diagnosis but have features suspicious for Li-Fraumeni syndrome, and for at-risk individuals in affected families. Confirmation of a Li-Fraumeni syndrome diagnosis has lifelong medical management implications for cancer prevention and surveillance.

 

 GeneReviews: Li-Fraumeni syndrome

Send Out Instructions

Reference Test Name: Li-Fraumeni Syndrome Via the TP53 Gene
Reference Test Number: 713
Instructions: Ship whole blood overnight, ambient temperature. PreventionGenetics accepts Saturday delivery.