PTEN Sequencing and Deletion/Duplication
Use
This test is used to identify individuals with autosomal dominant PTEN hamartoma tumor syndrome (PHTS), including Cowden syndrome, by detecting single‑nucleotide variants, deletions, and duplications in the PTEN gene, which encodes the tumor suppressor protein phosphatase and tensin homolog. It aids in diagnosing individuals with major or minor phenotypic features consistent with PHTS and informs genetic risk assessment and surveillance strategies.
Special Instructions
Informed consent following genetic counseling is strongly recommended. Upon receipt of a fully completed order, Quest will verify insurance coverage and estimate out-of-pocket costs; if these exceed $100, they will notify before proceeding. A fully completed family history form and order—and, if required, health plan preauthorization—are necessary for timely processing.
Limitations
Negative results do not rule out PHTS; variants outside analyzed regions or in regulatory/deep intronic regions may be missed. Variant interpretations may change over time as classification evolves; checking variant classification updates (e.g., via Quest's VariantIQ) is advised. A VUS should be managed based on personal and family history; family studies may help clarify significance.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Specimen Source: Blood — Ship ambient unless otherwise specified.