Test name: PTEN Gene Sequencing
Also known as: PTEN-related disorders; PTEN Hamaratoma Tumor Syndrome (PHTS) including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), Proteus syndrome (PS), & Proteus-like syndrome; Macrocephaly/Autism syndrome
- Clinical features of PTEN Hamaratoma Tumor Syndrome (PHTS) including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), Proteus syndrome (PS), & Proteus-like syndrome.
- CS is associated with multiple benign and malignant tumors of the breast, thyroid and endometrium. Other findings frequently seen include macrocephaly, papillomatous papules and trichilemmomas, often by the second or third decade of life.
- BRRS is a congenital condition associated with macrocephaly, lipomas, intestinal polyps, and pigmented macules of the glans penis.
- PS/PS-like syndromes are rare and quite variable conditions that may include congenital malformations and overgrowth of several tissues in addition to epidermal nevi, connective tissue nevi, and/or hyperostoses.
- Clinical features of macrocephaly and autism.
- Postnatal testing for at risk relative of previously identified familial mutation in PTEN.
Test Information: This testing includes gene sequencing of PTEN but does not include deletion/duplication testing for these autosomal dominant conditions.
Additional tests available on postnatal samples (refer to additional pages for details):
Postnatal Chromosome Analysis
Postnatal FISH including Aneuploidy FISH and Constitutional FISH
180K Microarray (includes deletion/duplication of partial/whole gene PTEN)
Single gene testing – refer to Test Catalog for tests offered at HGL
Coming soon: Next Generation Sequencing
- Adult: one 3-5 ml whole blood EDTA (purple top) tube
- Newborn: one 3-5 ml whole blood EDTA (purple top) tube (minimum 1 ml)
CPT codes: 83894, 83896(x9), 83898(x15), 83904(x15)*
*Unless using stored DNA from a prior sample, the following DNA Extraction codes (83891, 83894, 83907, 84311) will apply once for molecular/microarray testing.
Pricing: Contact the laboratory billing staff for current costs
Required forms: Postnatal Test Request Form
Turn-around time: Results are typically available in 4 weeks