PTEN-Related Syndromes

(Lab studies request form) | CPT Codes/Price List (PDF)

PTEN mutations are associated with autism/macrocephaly and PTEN-related tumor syndromes. Sequencing of the PTEN gene at 10q23.3 is available from the DNA Diagnostic Laboratory of the Greenwood Genetic Center. Deletion/duplication analysis for PTEN via multiplex ligation-dependent probe amplification (MLPA) is also available upon request.
PTEN mutations have been detected in up to 20% of individuals with autism and macrocephaly. Such mutations are most likely found in patients with extreme macrocephaly.

The following hamartoma tumor syndromes have been associated with PTEN mutations. Sequencing of the PTEN gene can detect mutations in:

80% of individuals who meet the diagnostic criteria for Cowden syndrome
60% of individuals with a clinical diagnosis of Bannayan-Riley-Ruvalcaba syndrome
20% of individuals who meet the diagnostic criteria for Proteus syndrome
50% of individuals with Proteus-like syndrome

Specimen requirements: 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml. If necessary, ACD solution A Vacutainer tubes (yellow top) may be submitted. If sending cultured cells for testing, please include a control flask. Please contact the laboratory for more information.

Transport: Please contact the Molecular Diagnostic Lab Coordinator (1-800-473-9411) for shipping information. The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.

Analysis standards: Analysis will be complete within 6 weeks of sample receipt. The laboratory director and technical staff members independently assess the quality and interpretation of the test. The Greenwood Genetic Center Molecular Diagnostic Laboratory is CLIA certified and actively participates in CAP proficiency surveys.

Reporting of Test Results: Test results with interpretation will be mailed and/or faxed following completion of the test. Verbal reports will be telephoned to the person(s) requesting the test when an abnormal test result occurs. Consultation with the laboratory director and explanations of testing protocols are available upon request.

Unknown mutation:

CPT Codes: 83890, 83898 (x6), 83904 (x6), 83909 (x4), 83912

Known mutation:

CPT Codes: 83890, 83898, 83904 (x2), 83909, 83912