Associated disorders

The PTEN gene is associated with PTEN-related disorders including the clinical subtypes of autosomal dominant PTEN hamartoma syndrome (PHTS), Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome (MedGen UID: 368366).

PTEN is a tumor-suppressor gene that has roles in controlling cellular migration, adhesion, and angiogenesis. The PTEN gene encodes a phosphatase that negatively regulates intracellular levels of phosphatidylinositol-3,4,5-trisphosphate and the AKT/PKB signaling pathway. These functions help prevent uncontrolled cell growth that can lead to the formation of tumors.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
PTEN* NM_000314.4

*PTEN: Deletion/duplication analysis covers the promoter region.