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Test 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

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).

Reporting Name

PTEN Full Gene Analysis

Specimen Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Reference Values

An interpretive report will be provided.

Day(s) Performed

Varies

Report Available

21 to 28 days

Specimen Retention Time

Whole blood: 2 weeks (if available); Extracted DNA: 3 months

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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