PTEN Sequencing and Deletion/Duplication
- Laboratory
- Quest Diagnostics
- Test code
- 92566
- Specimen
- Blood
- Fasting
- Not stated
- LOINC
- 47969-1, 50398-7, 53037-8, 8266-9, 96972-5
- Turnaround
- Set up: Tues, Thurs, Sat
Laboratory assay overview
Mutations in the PTEN gene are the main cause of Cowden Syndrome, which is characterized by hamartomatous polyps of the gastrointestinal tract, mucocutaneous lesions, and increased risk of developing neoplasms. Mutations in the PTEN gene are also associated with a lifetime breast cancer risk of 85%. Sequencing and deletion/duplication analyses of the PTEN gene will identify individuals who are affected with Cowden Syndrome and therefore are at risk for PTEN- related cancers.
View complete laboratory reference notes
See Laboratory Report
Quest Diagnostics test directory, test code 92566