Test Code: ONC004
PTEN Hamartoma Tumour Syndrome (PHTS)
Oncogenetics
PTEN Hamartoma Tumour Syndrome (PHTS) is a group of related hereditary conditions caused by pathogenic variants in the PTEN gene. These conditions include Cowden syndrome, Bannayan–Riley–Ruvalcaba syndrome, and other PTEN‑related overgrowth and tumour‑predisposition disorders. Individuals with PHTS have an increased lifetime risk of developing breast, thyroid, endometrial, renal, colorectal, and melanocytic tumours, as well as characteristic mucocutaneous and developmental features.
This genetic test analyses the PTEN gene using next‑generation sequencing (NGS) and deletion/duplication analysis to detect pathogenic or likely pathogenic variants associated with PHTS.
This genetic test analyses the PTEN gene using next‑generation sequencing (NGS) and deletion/duplication analysis to detect pathogenic or likely pathogenic variants associated with PHTS.
Sample Type
Blood in EDTA; Bone marrow (Na Heparin Tube)
Turnaround Time
3 - 4 weeks days
Courier Requirements
Ship overnight at room temperature to receive next day. Maintain specimen at room temperature.
Pricing
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Genes Analyzed
1 genes
PTEN
Methodology
Capture-based target enrichment and Next Generation Sequencing.
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