• Test code: 01301
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
  • Request a sample kit

Invitae Thyroid Cancer Panel

Test description

The Invitae Thyroid Cancer Panel analyzes up to 11 genes that are associated with an increased lifetime risk of developing thyroid cancer. These genes were selected based on the available evidence to date to provide Invitae’s most comprehensive hereditary thyroid cancer panel. Many of these genes are also associated with an increased risk of other types of cancer.

Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant would also guide testing and diagnosis of at-risk relatives. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.

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Primary panel (7 genes)


Add-on Preliminary-evidence Genes for Thyroid Cancer (4 genes)

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.


  • Carney complex
  • Cowden and Cowden-like syndrome
  • DICER1 syndrome
  • familial adenomatous polyposis (FAP)
  • Li-Fraumeni syndrome (LFS)
  • multiple endocrine neoplasia type 2 (MEN2)

Thyroid cancer occurs in approximately 13 of 100,000 individuals in the general population per year. Most cases of thyroid cancer are sporadic; however, approximately 5%–10% have a familial component and are due to a pathogenic variant (an identifiable gene change). The most common type of thyroid cancer, accounting for more than 90% of all cases, is non-medullary thyroid cancer (NMTC). Approximately 3%–10% of NMTC cases have a familial component.

Medullary thyroid carcinoma (MTC) is a relatively uncommon type of thyroid malignancy. It is more strongly associated with hereditary cancer syndromes.The familial form of MTC accounts for 20%–25% of cases and is usually either familial MTC (FMTC) syndrome or a component of multiple endocrine neoplasia (MEN) IIA or IIB.

This panel includes genes associated with an increased risk for thyroid cancer:

  • RET is associated with medullary thyroid cancer (MTC).
  • PTEN is linked to Cowden Syndrome and primarily follicular thyroid cancer.
  • a subset of the genes on this panel is more rarely associated with thyroid cancer.

In individuals with a pathogenic variant in one of these genes, the risk of developing cancer is significantly higher. Identifying those at higher risk may allow for additional screening, surveillance, and interventions, which results in risk-reduction and early diagnosis and increases the chances of successful treatment and survival.

Individuals with a pathogenic variant in one of these genes have an increased risk of malignancy compared to the average person, but not everyone with such a variant will actually develop cancer. Further, the same variant can present differently, even among family members. Because we cannot predict which cancers may develop, additional medical management strategies focused on cancer prevention and early detection may benefit most patients who are found to have a pathogenic variant. For gene-associated cancer risks, see the table below.

GeneConditionThyroid cancer riskOther associated cancers/features
APC familial adenomatous polyposis up to 12% (PMID: 22425061) colon, duodenal, pancreatic, hepatic, central nervous system
CHEK2 CHEK2-related conditions elevated (PMID: 25583358, 15492928, 24599715) breast, colon, prostate, kidney
DICER1 DICER1 syndrome benign thyroid lesions—elevated thyroid cancer—unknown risk (PMID: 24617712, 21266384) pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig cell tumors, juvenile granulosa cell tumors, gynandroblastoma
PRKAR1A Carney complex thyroid adenoma or carcinoma and multiple thyroid nodules—elevated (PMID: 12203783, 16756677) myxomas, schwannomas, Sertoli cell tumors, skin pigmentary findings
PTEN Cowden syndrome 35% (PMID: 22252256) breast, uterine, kidney, skin findings
RET multiple endocrine neoplasia type 2 medullary thyroid cancer— >98% (PMID: 14561794, 17895320) pheochromocytoma, paragangliomas,
TP53 Li-Fraumeni syndrome elevated (PMID: 20522432) breast, sarcoma, leukemia, central nervous system, adrenocortical carcinoma, choroid plexus carcinoma

The majority of conditions tested in this panel have an autosomal dominant pattern of inheritance.

This panel may be considered for individuals who have a personal or family history of:

  • multiple family members with thyroid and/or other cancers
  • thyroid cancer before age 45
  • medullary thyroid cancer or pheochromocytoma
  • thyroid cancer and another type of cancer in the same individual

  1. American, Thyroid, Association, Guidelines, Task, Force, et al. Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid. 2009; 19(6):565-612. doi: 10.1089/thy.2008.0403. PMID: 19469690
  2. Bertherat, J. Carney complex (CNC). Orphanet J Rare Dis. 2006; 1:21. PMID: 16756677
  3. Brandi, ML, et al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J. Clin. Endocrinol. Metab. 2001; 86(12):5658-71. doi: 10.1210/jcem.86.12.8070. PMID: 11739416
  4. Cybulski, C, et al. CHEK2 is a multiorgan cancer susceptibility gene. Am. J. Hum. Genet. 2004; 75(6):1131-5. PMID: 15492928
  5. Doros, L, et al. DICER1-Related Disorders. 2014 Apr 24. In: Pagon, RA, et al, editors. GeneReviews (Internet). University of Washington, Seattle; Available from: http://www.ncbi.nlm.nih.gov/books/NBK196157/ PMID: 24761742
  6. Elisei, R, et al. RET genetic screening in patients with medullary thyroid cancer and their relatives: experience with 807 individuals at one center. J. Clin. Endocrinol. Metab. 2007; 92(12):4725-9. PMID: 17895320
  7. Eng, C. PTEN Hamartoma Tumor Syndrome (PHTS). 2001 Nov 29. In: Pagon, RA, et al, editors. GeneReviews (Internet). University of Washington, Seattle; Available from: http://www.ncbi.nlm.nih.gov/books/NBK1488/ PMID: 20301661
  8. Jasperson, KW, Burt, RW. APC-Associated Polyposis Conditions. 1998 Dec 18. In: Pagon, RA, et al, editors. GeneReviews (Internet). University of Washington, Seattle; Available from: PMID: 20301519
  9. Kirmani, S, Young, WF. Hereditary Paraganglioma-Pheochromocytoma Syndromes. 2008 May 21. In: Pagon, RA, et al, editors. GeneReviews (Internet). University of Washington, Seattle; Available from: http://www.ncbi.nlm.nih.gov/books/NBK1548/ PMID: 20301715
  10. Machens, A, Dralle, H. Genotype-phenotype based surgical concept of hereditary medullary thyroid carcinoma. World J Surg. 2007; 31(5):957-68. doi: 10.1007/s00268-006-0769-y. PMID: 17453286
  11. Machens, A, et al. Early malignant progression of hereditary medullary thyroid cancer. N. Engl. J. Med. 2003; 349(16):1517-25. PMID: 14561794
  12. Marquard, J, Eng, C. Multiple Endocrine Neoplasia Type 2. 1999 Sep 27. In: Pagon, RA, et al, editors. GeneReviews (Internet). University of Washington, Seattle; Available from: http://www.ncbi.nlm.nih.gov/books/NBK1257/ PMID: 20301434
  13. Oshima, J, et al. Werner Syndrome. 2002 Dec 02. In: Pagon, RA, et al, editors. GeneReviews(®) (Internet). University of Washington, Seattle. PMID: 20301687
  14. Ruijs, MW, et al. TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. J. Med. Genet. 2010; 47(6):421-8. PMID: 20522432
  15. Sandrini, F, et al. Regulatory subunit type I-alpha of protein kinase A (PRKAR1A): a tumor-suppressor gene for sporadic thyroid cancer. Genes Chromosomes Cancer. 2002; 35(2):182-92. PMID: 12203783
  16. Schneider, K, et al. Li-Fraumeni Syndrome. 1999 Jan 19. In: Pagon, RA, et al, editors. GeneReviews (Internet). University of Washington, Seattle. PMID: 20301488
  17. Siołek, M, et al. CHEK2 mutations and the risk of papillary thyroid cancer. Int. J. Cancer. 2015; :None. PMID: 25583358
  18. Slade, I, et al. DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. J. Med. Genet. 2011; 48(4):273-8. doi: 10.1136/jmg.2010.083790. PMID: 21266384
  19. Steinhagen, E, et al. The prevalence of thyroid cancer and benign thyroid disease in patients with familial adenomatous polyposis may be higher than previously recognized. Clin Colorectal Cancer. 2012; 11(4):304-8. PMID: 22425061
  20. Stratakis, CA, et al. Carney Complex. 2003 Feb 05. In: Pagon, RA, et al, editors. GeneReviews(®) (Internet). University of Washington, Seattle. PMID: 20301463
  21. Tan, MH, et al. Lifetime cancer risks in individuals with germline PTEN mutations. Clin. Cancer Res. 2012; 18(2):400-7. doi: 10.1158/1078-0432.CCR-11-2283. PMID: 22252256
  22. Wójcicka, A, et al. Variants in the ATM-CHEK2-BRCA1 axis determine genetic predisposition and clinical presentation of papillary thyroid carcinoma. Genes Chromosomes Cancer. 2014; 53(6):516-23. PMID: 24599715
  23. de, Kock, L, et al. Exploring the association Between DICER1 mutations and differentiated thyroid carcinoma. J. Clin. Endocrinol. Metab. 2014; 99(6):E1072-7. doi: 10.1210/jc.2013-4206. PMID: 24617712

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
APC* NM_000038.5
CHEK2 NM_007194.3
DICER1 NM_177438.2
MEN1 NM_130799.2
PRKAR1A NM_002734.4
PTEN* NM_000314.4
RET NM_020975.4
SDHB NM_003000.2
SDHD NM_003002.3
TP53* NM_000546.5
WRN* NM_000553.4

APC: The 1B promoter region is covered by both sequencing and deletion/duplication analysis. The 1A promoter region is covered by deletion/duplication analysis.
PTEN: Deletion/duplication analysis covers the promoter region.
TP53: Deletion/duplication analysis covers the promoter region.
WRN: Deletion/duplication analysis is not offered for exons 10 or 11.