Sanger Sequencing of PTEN Only for Related Disorders (PTEN1)
Information for Ordering
Acceptable Specimen Types
- Fresh blood sample: 3–6 mL EDTA; no time limitations associated with receipt
- Saliva: OGD-575 DNA Genotek collection kit; kits are provided upon request
- DNA extracted from lymphocyte cells: minimum volume of 25 µL containing 3 µg of DNA; A260/A280 ratio ≥1.8; must be extracted in a CLIA-certified or equivalent laboratory
Turnaround Time
- Blood, saliva, or DNA: Average of 15 working days
Price, CPT Codes, and Z Code
- Institutional/self-pay price: $1,100 USD
- Institutional/self-pay price if a variant is identified during sequencing: $800 USD
- CPT codes: 81321 and 81323
- Z code: ZB6AH
Candidates for Testing
Patients suspected of having a PTEN-related disorder or seeking molecular confirmation of a clinical diagnosis.
Specimen Shipping and Handling
Please refer to the specimen requirements listed above.
Blood, saliva, and extracted DNA specimens should be shipped at room temperature. Do not ship specimens on ice.
Specimens must be packaged to prevent breakage. Absorbent material must be included to contain liquids if breakage occurs. Specimens must also be shipped in double watertight containers, such as a specimen pouch placed inside the shipping company’s diagnostic envelope.
To request a collection kit, please complete the Collection Kit Request Form.
Before shipping a specimen, please contact the UAB Medical Genomics Laboratory by email at medgenomics@uabmc.edu or by phone at 205-934-5562. Please provide the specimen type, shipment date, and package tracking number so the laboratory can help ensure proper and timely receipt.
Required Forms
About
Disorder Background
PTEN hamartoma tumor syndrome includes a spectrum of disorders associated with pathogenic variants in PTEN, including Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. These conditions share significant clinical overlap and are inherited in an autosomal dominant manner. De novo variants are also common.
- Cowden syndrome: A multiple-hamartoma syndrome associated with an increased risk of benign and malignant tumors, particularly of the breast, thyroid, endometrium, and kidney. Common features include macrocephaly and characteristic mucocutaneous findings such as trichilemmomas, papillomatous papules, and acral or plantar keratoses. Other findings may include gastrointestinal hamartomatous polyps, fibrocystic breast disease, fibromas, cerebellar dysplastic gangliocytoma (Lhermitte-Duclos disease), uterine leiomyomas, vascular malformations, and other tumors.
- Bannayan-Riley-Ruvalcaba syndrome: Characterized by macrocephaly, intestinal polyposis, lipomas, and pigmented macules of the glans penis. Other findings may include developmental delay, intellectual disability, hamartomatous gastrointestinal polyps, proximal muscle involvement, joint hypermobility, pectus excavatum, and scoliosis. Individuals with pathogenic PTEN variants are considered to have cancer risks similar to those associated with Cowden syndrome.
- Proteus-like syndrome: Refers to individuals with significant features of Proteus syndrome who do not meet the full clinical diagnostic criteria.
- Macrocephaly/autism syndrome: Pathogenic PTEN variants may be identified in a subset of individuals with autism and macrocephaly, with or without other features of a PTEN-related disorder. PTEN testing may therefore be considered when other genetic causes have not been identified.
Test Description
The PTEN-only Sanger sequencing test includes DNA extraction followed by direct sequencing of the entire coding region of PTEN. MLPA copy-number analysis is also performed to detect partial or whole-gene deletions and duplications.
Variants detected may include nonsense, frameshift, splice-site, and missense variants, as well as multi-exon and whole-gene deletions or duplications.
Test sensitivity varies according to the clinical diagnosis. The sequencing approach used by the UAB Medical Genomics Laboratory identifies greater than 99% of intragenic sequence variants in PTEN. Partial and whole-gene deletions or duplications are evaluated by MLPA.
View references for this testing.
For more information, test requisition forms, or collection kits, please contact the UAB Medical Genomics Laboratory at 205-934-5562 or medgenomics@uabmc.edu.