Test Overview
The full and minimal promoter regions, coding exons and associated, adjacent consensus splice sites of the PTEN gene are amplified using specific primers, and bidirectionally sequenced using a fluorescent method.
This test is used to detect the presence of PTEN mutations in patients with PTEN Hamartoma Tumor Syndrome (PHTS); the PHTS diagnosis includes Cowden Disease (CD)/Cowden Syndrome (CS), Bannayan-Riley-Ruvalcaba Syndrome (BRSS), Proteus Syndrome (PS), and Proteus-like syndromes. This test is also appropriate for patients exhibiting Macrocephaly/Autism Syndrome or VACTERL association with hydrocephalus, and for carrier testing in families with a known PTEN mutation. Approximately 10% of previously classified PTEN mutation-negative patients have nucleotide variants within the full-length promoter, and these mutations resulted in both a decrease in PTEN protein expression and loss of function (Teresi et al., AGHJ, V81, 756-767, 2007).
Interpretive report provided.
This assay will not detect large deletions in the PTEN gene or intronic mutations outside the region sequenced in the PTEN gene. Mutations in other genes associated with the aforementioned syndromes will not be detected.
Test Details
21 - 28 days
- PTENS
- PTEN GENE SEQUENCING
- PTENSS
- PTEN Gen Seq Shadow
- Cowden Syndrome (CS)
- Bannayan-Riley-Ruvalcaba Syndrome (BRRS)
- Proteus and Proteus-like Syndrome
- Macrocephaly / Autism Syndrome
- PPROSS
- PTEN Promoter Seq Shadowhadow
- PPROS
- PTEN Promoter Sequencing
- Cowden Disease (CD)
- Autism / Intellectual Disability
Specimen Requirements
Collect specimen in a lavender top tube. Send intact specimen within 24 hours if stored at room temperature or within 5 days if stored refrigerated. Include the patient's family history, pedigree, and ethnicity on the test requisition. Obtaining informed consent from the patient prior to genetic testing is strongly recommended. If desired, a UMHS Request and Consent for Genetic Testing form can be obtained from the MMGL Molecular Genetics Laboratory by contacting the MLabs Client Services Center at 800-862-7284 or online at https://mlabs.umich.edu/sites/default/files/2020-01/file/pci-mmgl_infor….
Additional Information
Full and minimal promoter sequencing of PTEN may also be ordered individually (order code PPROSS). By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includes medical geneticist interpretation of results billed as a separate additional charge. This test is not available without interpretation.