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Test Catalog

Test ID: PTENK    
PTEN Gene, Known Mutation

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.


Useful For Suggests clinical disorders or settings where the test may be helpful

Confirming a diagnosis of PTEN hamartoma tumor syndrome, which includes Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, or Proteus-like syndrome


Screening of at-risk individuals when a mutations in the PTEN gene has been identified in an affected family member

Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request

Documentation of the specific familial mutations must be provided with the specimen in order to perform this test. Note: To test for a familial large deletion or duplication, order SDEL / Single-Gene Large Deletion and Duplication Analysis. Contact Mayo Medical Laboratories at 800-533-1710 for testing recommendations.

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

Method Name A short description of the method used to perform the test

Polymerase Chain Reaction (PCR) Amplification/DNA Sequencing

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

PTEN Gene, Known Mutation

Aliases Lists additional common names for a test, as an aid in searching

Cowden Syndrome
Proteus Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
Proteus-like syndrome
PTEN hamartoma tumor syndrome (PHTS)
Lhermitte-Duclos Disease