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HelpTest ID: PTNZ PTEN Hamartoma Tumor Syndrome, PTEN Full Gene Analysis, Varies
Ordering Guidance
For a comprehensive hereditary cancer panel that includes the PTEN gene, consider ordering 1 of the following tests:
-BRGYP / Hereditary Breast/Gynecologic Cancer Panel, Varies
-ENDCP / Hereditary Endocrine Cancer Panel, Varies
-HPGLP / Hereditary Paraganglioma/Pheochromocytoma Panel, Varies
-RENCP / Hereditary Renal Cancer Panel, Varies
Testing for the PTEN gene as part of a customized panel is available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.
Targeted testing for familial variants (also called site-specific or known mutations testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Molecular Genetics: Inherited Cancer Syndromes Patient Information (T519)
3. If not ordering electronically, complete, print, and send a Oncology Test Request (T729) with the specimen.
Useful For
Evaluating patients with a personal or family history suggestive of PTEN hamartoma tumor syndrome (PHTS)
Establishing a diagnosis of PHTS allowing for targeted cancer surveillance based on associated risks
Identifying variants within genes known to be associated with increased risk for PHTS allowing for predictive testing of at-risk family members
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in the PTEN gene (including promoter) associated with PTEN hamartoma tumor syndrome (PHTS). See Method Description for additional details.
Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for PTEN hamartoma tumor syndrome (PHTS).
Method Name
Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing.
Reporting Name
PTEN Full Gene AnalysisSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Clinical Information
Germline variants in the PTEN gene are associated with a rare group of overlapping clinical syndromes collectively referred to as PTEN hamartoma tumor syndrome (PHTS). This includes Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, Proteus-like syndrome, and autism with macrocephaly.(1,2)
PHTS is inherited in an autosomal dominant manner.(1) Between 10% to 48% of individuals with PHTS have a de novo PTEN variant.(3) Affected individuals have an increased risk of cancer, including cancers of the breast, endometrium, thyroid, kidney, and colon.(1) Individuals with PHTS also may present with macrocephaly, vascular lesions, trichilemmomas, mucocutaneous papillomatous papules, lipomatosis, hemangiomatosis, and pigmented macules on the glans penis.(1) Dysplastic gangliocytoma of the cerebellum, also known as Lhermitte-Duclos disease, is another hamartomatous tumor associated with PHTS.(1) Intellectual disability, developmental delay, and autism are commonly seen in individuals with PHTS.(1)
Since it was reported that PTEN variants account for 10% to 20% of individuals with autism with macrocephaly, the American College of Medical Genetics and Genomics has recommended PTEN gene testing in individuals with both features.(4) The long-term clinical outcomes of individuals with PTEN-related autism with macrocephaly is not currently known.(1,2) As such, individuals with PTEN-related autism with macrocephaly should follow the same cancer screening recommendations provided for PHTS.(1,2)
The National Comprehensive Cancer Network provides recommendations regarding the medical management of individuals with PHTS.(5)
Reference Values
An interpretive report will be provided.
Interpretation
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(6) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Clinical Reference
1. Yehia L, Eng C: PTEN hamartoma tumor syndrome. In: Adam MP, Everman DB, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2001. Updated February 11, 2021. Accessed November 7, 2022. Available at www.ncbi.nlm.nih.gov/books/NBK1488/
2. Yehia L, Keel E, Eng C: The clinical spectrum of PTEN mutations. Annu Rev Med. 2020 Jan 27;71:103-116
3. Mester J, Eng C: Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. Genet Med. 2012 Sep;14(9):819-822
4. Schaefer BG, Mendelsohn NJ, Professional Practice and Guidelines Committee: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genet Med. 2013 May;15(5):399-407
5. Daly MB, Pal T, Berry MP, et al: Genetic/familial high-risk assessment: Breast, ovarian, and pancreatic, version 2.2021, NCCN clinical practice guidelines in oncology. J Natl Compr Canc Netw. 2021 Jan 6;19(1):77-102
6. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-424
Day(s) Performed
Varies
Report Available
21 to 28 daysTest Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81321
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| PTNZ | PTEN Full Gene Analysis | 94223-5 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 614815 | Test Description | 62364-5 |
| 614816 | Specimen | 31208-2 |
| 614817 | Source | 31208-2 |
| 614818 | Result Summary | 50397-9 |
| 614819 | Result | 82939-0 |
| 614820 | Interpretation | 69047-9 |
| 614821 | Resources | 99622-3 |
| 614822 | Additional Information | 48767-8 |
| 614823 | Method | 85069-3 |
| 614824 | Genes Analyzed | 48018-6 |
| 614825 | Disclaimer | 62364-5 |
| 614826 | Released By | 18771-6 |
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