21 - 28 days
PTEN GENE SEQUENCING
PTEN Gen Seq Shadow
Cowden Syndrome (CS)
Bannayan-Riley-Ruvalcaba Syndrome (BRRS)
Proteus and Proteus-like Syndrome
Macrocephaly / Autism Syndrome
PTEN Promoter Seq Shadowhadow
PTEN Promoter Sequencing
Cowden Disease (CD)
Autism / Intellectual Disability
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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.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
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….