GeneDx :: Tests :: PTEN Hamartoma Tumor syndrome (PHTS), including Cowden syndrome (CS) Bannayan-Riley-Ruvalcaba syndrome (BRRS) Proteus syndrome (PS) / Proteus-like syndromes

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PTEN Hamartoma Tumor syndrome (PHTS), including
Cowden syndrome (CS)
Bannayan-Riley-Ruvalcaba syndrome (BRRS)
Proteus syndrome (PS) / Proteus-like syndrome

PTEN (Phosphatase and Tensin Homolog)

This group of disorders shares significant clinical overlap most notably predisposition to hamartomatous polyposis of the GI tract. While it is estimated that 90% of individuals with CS will present with some clinical feature by the late 20’s, both BRRS and PS are considered congenital disorders.

GeneDx now offers

MORE COMPREHENSIVE PTEN gene sequencing including the core promoter region at NO EXTRA COST
Our bi-directional sequence analysis now includes coding exons 1-9 AND the core promoter region (approximately from c.-700 to c.-1300). The sequencing approach used by GeneDx will identify >99% of existing small, intragenic mutations in the PTEN gene and promoter region.

PTEN DELETION testing by quantitative PCR (CopyDx) including the PTEN promoter (E-box element)
When indicated, CopyDx quantitative PCR (qPCR) analysis is available for detection of a partial or whole deletion of one copy of the PTEN gene.

GeneDx also offers Reflex Testing (add-on) for patients with previous PTEN testing at GeneDx

Reflex test A: If PTEN sequencing of the coding region has been done previously at GeneDx. This test includes sequence analysis of the core promoter region and CopyDx for detection of a deletion in PTEN.

Reflex test B: If PTEN sequencing of the coding region and qPCR analysis has been done previously at GeneDx. This test includes sequence analysis of the core promoter region and CopyDx for a deletion in the promoter near the E-box element only.

Mutation-Specific Testing in family members and Prenatal Diagnosis in at-risk pregnancies, once a mutation in an affected person has been defined.

PTEN Hamartoma Tumor syndrome is an autosomal dominant disorder and de novo mutations are common. Test sensitivity varies depending on the clinical diagnosis. Please read our information sheet for a more detailed description of clinical features, test sensitivity and mutation spectrum.

Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options

PTEN; Hamartoma; Tumor; syndrome; PHTS; Cowden; CS; Bannayan-Riley-Ruvalcaba; BRRS; Proteus; PS; Proteus-like; hamartomas; GI tract; congenital; sequence analysis; coding exons; promoter; CopyDx; quantitative PCR; qPCR; mutation