Li-Fraumeni Syndrome, TP53 Sequencing and Deletion/Duplication
- Laboratory
- Quest Diagnostics
- Test code
- 92560
- Specimen
- Blood
- Fasting
- Not stated
- LOINC
- 21739-8, 50398-7, 53037-8, 8266-9, 96970-9
- Turnaround
- Set up: Tues, Thurs, Sat
Laboratory assay overview
Mutations in the TP53 gene leads to Li-Fraumeni Syndrome (LFS) which is an inherited cancer syndrome with an early onset of tumors, multiple tumors within an individual, and often multiple affected family members. The most common types of tumors are soft tissue sarcomas and osteosarcomas, breast cancer, brain tumors, leukemia, and adrenocortical carcinoma. Sequencing and deletion/duplication analyses of the TP53 gene will identify individuals who are affected with LFS and therefore at risk for TP53-related cancers.
View complete laboratory reference notes
See Laboratory Report
Quest Diagnostics test directory, test code 92560