PTEN Hamartoma Tumor Syndrome (PHTS) is a group of conditions caused by a mutation in the PTEN gene. This includes Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-Like syndromes and VACTERL Association. Each disorder has its own list of unique features, but there are common characteristics such as macrocephaly, harartomatous overgrowth and vascular malformations. A clinical diagnosis of PHTS can be made based on clinical symptoms, but a definitive diagnosis requires the identification of a heterozygous PTEN mutation. Patients with a germline mutation in PTEN have a 5-10 fold higher chance of developing cancer at a much earlier age (<30 y/o) than the general population. In addition to confirming the diagnosis of PHTS, testing patients for a germline PTEN mutation is essential to accurately assess their risk for cancer and to make appropriate recommendations regarding prevention and treatment of malignancy.

PHTS inherited in an autosomal dominant manner, and PTEN is the only known gene to be associated with the disease. In addition to PHTS, germline mutations in PTEN have been identified in 16% of patients with Autism Spectrum Disorders (ASD) and macrocephaly, 12.5% of patients with adenomatous and hyperplastic polyps. To date, ~230 mutations have been reported for the PTEN gene, and ~95% can be detected by DNA sequencing.

Methodology: Sequencing of entire coding region of the PTEN gene

Deletion/Duplication analysis is also available for this gene.

Purpose: Confirmation of Clinical Diagnosis

Detection Frequency: ~95%

Turn-Around-Time: 5 weeks

Specimen Requirements:  2-5 ml Blood- EDTA tube (Lavender Top)

For Buccal Swab or Saliva samples please contact the lab to obtain a collection kit.

Use the Single Gene Sequencing Test Order Form







Contact Information

OUHSC Genetics Laboratory 1122 NE 13th Street, Suite 1400, Oklahoma City, OK 73104

Phone (405)271-3589 Fax (405)271-7117 After hours phone (405)496-9514


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