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HelpTest Code 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
Special Instructions
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 | ||
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 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test 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 |