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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 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. 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: 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
Additional Information: 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.
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.
Secondary ID
614580Useful 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 followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing.
Reporting Name
Hereditary Thyroid Cancer PanelSpecimen Type
VariesSpecimen 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.Clinical Information
The lifetime risk to develop thyroid cancer is approximately 1.2%.(1) Rarely, a predisposition to thyroid cancer may be inherited in families with certain genetic alterations. Most of these genetic alterations are syndromic, meaning individuals who inherit them are usually at risk for other types of cancers or features, in addition to thyroid cancer.
Papillary thyroid cancers are typically sporadic but can be seen in individuals or families with familial adenomatous polyposis (FAP) syndrome, caused by variants within the APC gene (cribriform morular variant). Individuals with FAP are at also very high risk for colonic polyposis and colorectal cancer.
Follicular or papillary thyroid cancers may be seen in families with PTEN hamartoma tumor syndrome (PHTS). Individuals with disease-causing PTEN variants have a 70-fold increased incidence of thyroid cancer compared to the general population and are at increased risk to develop breast and endometrial cancer.(2)
Thyroid cancers with follicular or papillary features can also be seen in individuals with disease-causing DICER1 variants, as well as individuals with Carney complex, which is caused by disease-causing variants within the PRKAR1A gene.(3,4)
Approximately 25% of cases of medullary thyroid cancer (MTC) are caused by an inherited RET variant.(5) Some disease-causing RET variants are associated with only isolated, familial MTC, while others cause a syndrome called multiple endocrine neoplasia type 2 (MEN2). Individuals with MEN2 have a high risk for MTC and may also have other tumors of the endocrine/neuroendocrine system, including paragangliomas, mucosal neuromas, pheochromocytomas, and parathyroid tumors.(6)
The National Comprehensive Cancer Network and the American Cancer Society provide recommendations regarding the medical management of individuals with hereditary thyroid cancer syndromes.(7)
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.
Method Description
Next-generation sequencing (NGS) and/or Sanger sequencing are performed to test for the presence of variants in coding regions and intron/exon boundaries of the genes analyzed, as well as some other regions that have known disease-causing variants. The human genome reference GRCh37/hg19 build was used for sequence read alignment. At least 99% of the bases are covered at a read depth over 30X. Sensitivity is estimated at above 99% for single nucleotide variants, above 94% for deletions-insertions (delins) less than 40 base pairs (bp), above 95% for deletions up to 75 bp and insertions up to 47 bp. NGS and/or a polymerase chain reaction-based quantitative method is performed to test for the presence of deletions and duplications in the genes analyzed.
There may be regions of genes that cannot be effectively evaluated by sequencing or deletion and duplication analysis as a result of technical limitations of the assay, including regions of homology, high guanine-cytosine (GC) content, and repetitive sequences. For details regarding the targeted genes analyzed and specific gene regions not routinely covered see Targeted Genes and Methodology Details for Hereditary Thyroid Cancer Panel.(Unpublished Mayo method)
Confirmation of select reportable variants may be performed by alternate methodologies based on internal laboratory criteria.
Genes analyzed: APC (including promoters 1A and 1B), DICER1, PRKAR1A, PTEN (including promoter), RET, TP53, and WRN
Day(s) Performed
Varies
Performing 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
81201
81321
81406
81351
81479
81479 (if appropriate for government payers)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| THYRP | Hereditary Thyroid Cancer Panel | In Process |
| 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 |