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HelpTest Code THYRP Hereditary Thyroid Cancer Panel, Varies
Ordering Guidance
Customization of this panel and single gene analysis for any gene present on this panel are 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. For more information see FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Shipping Instructions
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710.
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Green top (Sodium heparin)
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 4 days/Refrigerated 4 days/Frozen 4 days
Additional Information:
1. Specimens are preferred to be received within 4 days of collection. Extraction will be attempted for samples received after 4 days, and DNA yield will be evaluated to determine if testing may proceed.
2. To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.
Specimen Type: Saliva
Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes prior to collection.
Supplies: Saliva Swab Collection Kit (T786)
Specimen Volume: 1 Swab
Collection Instructions: Collect and send specimen per kit instructions.
Specimen Stability Information: Ambient (preferred) 30 days/Refrigerated 30 days
Additional information: Due to lower quantity/quality of DNA yielded from saliva, some aspects of the test may not perform as well as DNA extracted from a whole blood sample. When applicable, specific gene regions that were unable to be interrogated will be noted in the report. Alternatively, additional specimen may be required to complete testing.
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 a hereditary thyroid cancer syndrome
Establishing a diagnosis of a hereditary thyroid cancer syndrome, allowing for targeted surveillance based on associated risks
Identifying genetic variants associated with increased risk for thyroid and other cancers, allowing for predictive testing and appropriate screening 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
Hereditary Thyroid Cancer PanelSpecimen Type
VariesSpecimen Minimum Volume
Whole blood: 1 mL; Saliva: See Specimen Required
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| 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.(8) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Clinical Reference
1. Surveillance Epidemiology and End Results Program: Cancer Stat Facts: Thyroid cancer. National Cancer Institute; 2018. Accessed April 25, 2024. Available at http://seer.cancer.gov/statfacts/html/thyro.html
2. Ngeow J, Mester J, Rybicki LA, Ni Y, Milas M, Eng C. Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations. J Clin Endocrinol Metab. 2011;96(12):E2063-E2071
3. Stratakis CA, Raygada M. Carney complex. In: Adam MP, Feldman J, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2003. Updated September 21, 2023. Accessed April 25, 2024. Available at www.ncbi.nlm.nih.gov/books/NBK1286/
4. Schultz KAP, Stewart DR, Kamihara J, et al. DICER1 tumor predisposition. In: Adam MP, Feldman J, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2014. Updated April 30, 2020. Accessed April 25, 2024. Available at www.ncbi.nlm.nih.gov/books/NBK196157/
5. Shepet K, Alhefdhi A, Lai N, Mazeh H, Sippel R, Chen H. Hereditary medullary thyroid cancer: age-appropriate thyroidectomy improves disease-free survival. Ann Surg Oncol. 2013;20(5):1451-1455
6. Eng C. Multiple endocrine neoplasia type 2. In: Adam MP, Feldman J, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 1999. Updated August 10, 2023. Accessed April 25, 2024. Available at www.ncbi.nlm.nih.gov/books/NBK1257/
7. Haddad RI, Nasr C, Bischoff L, et al. NCCN Guidelines Insights: Thyroid carcinoma, Version 2.2018. J Natl Compr Canc Netw. 2018;16(12):1429-1440
8. 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;17(5):405-424
Day(s) Performed
Varies
Report Available
14 to 21 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
81437
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| THYRP | Hereditary Thyroid Cancer Panel | 106780-0 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 614863 | Test Description | 62364-5 |
| 614864 | Specimen | 31208-2 |
| 614865 | Source | 31208-2 |
| 614866 | Result Summary | 50397-9 |
| 614867 | Result | 82939-0 |
| 614868 | Interpretation | 69047-9 |
| 614869 | Resources | 99622-3 |
| 614870 | Additional Information | 48767-8 |
| 614871 | Method | 85069-3 |
| 614872 | Genes Analyzed | 48018-6 |
| 614873 | Disclaimer | 62364-5 |
| 614874 | Released By | 18771-6 |