Alternative Name
Phosphatase and Tensin Homolog Mutation Analysis
Test Description

Bi-directional sequencing of all exons (1-9) of the PTEN gene. For solid tumors, enrichment is performed before extraction. This assay does not detect large deletions.

Clinical Significance

ce Samples are accepted for somatic and germline PTEN mutation testing. PTEN is one of the most commonly mutated tumor suppressors in human cancer, and mutations are found in a variety of tumors, especially those of the central nervous system, endometrium, prostate, and skin. PTEN loss in breast cancer has been associated with poor response to trastuzumab. These and other PTEN-deficient tumors may respond to PI3 kinase inhibitors. Germline mutations are associated with autism spectrum disorders and the PTEN hamartoma tumor syndrome (PHTS) which includes Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Proteus-like syndrome.

Specimen Requirements
  • Peripheral blood: 5 mL in EDTA tube. Bone marrow: 2 mL in EDTA tube.
  • FFPE solid tumor tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns.  Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.
Storage and Transportation

Use cold pack for transport, making sure cold pack is not in direct contact with specimen

CPT Code(s)*
Turnaround Time

14 days

Level of Service

*The CPT codes provided with our test descriptions are based on AMA guidelines and are for informational purposes only. Correct CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed.