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)

PTEN Hamartoma Tumor Syndrome is an autosomal dominant group of disorders with 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. 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.

GeneDx now offers a comprehensive PTEN test that includes:

Bi-directional sequence analysis of the coding exons 1-9 and splice sites.

Bi-directional sequence analysis of the core promoter region (approximately from c.-700 to c.-1300).

Targeted array CGH analysis with exon-level resolution (ExonArrayDx) to evaluate for a deletion or duplication of one or more exons of this gene or the 5' regulatory region (promoter and E-box element).

Any mutation/deletion is confirmed using sequencing, restriction fragment analysis, qPCR or another appropriate method.

Mutation-specific testing in family members and prenatal diagnosis in at-risk pregnancies is offered, once a disease-causing mutation in an affected person has been defined.

For patients who have had PTEN testing performed at GeneDx prior to promoter sequencing and/or deletion testing being available, GeneDx also offers promoter sequencing and/or deletion/duplication testing by ExonArrayDx as separate tests.

Sample requirements: A single tube with 1-5 mL blood in EDTA
Turn-Around Time: Approximately 8 weeks

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