High Diagnostics





ThyroSeq® is the most accurate test
for thyroid nodules and cancer


  • Comprehensive genomic profiling of thyroid nodules using next-generation DNA and RNA sequencing
  • Clinically validated in the largest prospective, double-blind, multicenter study reported in JAMA Oncology1 and supported by multiple independent studies2-8
  • Highest NPV and PPV among well-validated tests 1
  • Reliable diagnosis of all types of thyroid nodules, including Hürthle cell nodules, medullary thyroid carcinoma, parathyroid, or other non-thyroidal lesions in a single workflow


Has already helped inform clinical management for > 70,000 patients9

[18981] Acuracy R1 (1)


Test performance according to the largest multicenter clinical validation study, reported in JAMA Oncology



High reduction of diagnostic surgeries
in nodules with indeterminate cytology





With very low (3%) residual cancer risk in ThyroSeq-negative nodules, surgery can be avoided in patients with Bethesda III-IV cytology nodules based on NCCN and ATA guidelines

Prevention Chart 67



  • University of California Los Angeles, CA2
  • Duke University, NC3
  • Boston Medical Center, MA4
  • McGill University, Quebec, Canada5
  • New York University, NY 6
  • University of Pennsylvania, PA7




​​​​​​ThyroSeq® uniquely reports the probability of cancer
and a prediction of cancer recurrence,
informing personalized patient management

Prediction of cancer recurrence is based on:

  • Comprehensive genomic profiling of DNA and RNA to detect four main classes of molecular alterations 1,10

  • Inclusion of all markers of aggressive thyroid cancer (TERT, TP53, AKT1, PIK3CA, and others) 1,10
  • Unique and proprietary database of >3,000 thyroid nodules with known surgical outcome9

Specific management recommendations included in each ThyroSeq® report:

  • Patients with a low-risk for recurrence profile detected by ThyroSeq® may be candidates for limited thyroid surgery (lobectomy)

  • Patients with a high-risk for recurrence profile may be candidates for total thyroidectomy and radioactive iodine treatment

  •  Patients with advanced thyroid cancer may benefit from ThyroSeq® detection of therapeutic targets (BRAF, NTRK, RET, ALK) linked to FDA approved drugs and clinical trials 



Abbreviations: MTC, medullary thyroid cancer; PT, parathyroid; Non-TFCL, non-thyroid follicular cell lesion; GEA, gene expression alterations; CNA, copy number alterations; LND, lymph node dissection.


ThyroSeq® testing has been validated for use
on a variety of specimen types:

Flexibility Section Total


High success rate of testing: 97-100% for fresh FNA samples,
81% for smears (PAP, Diff-Quik) 3-5, 10-12



1.Steward DL, et al. JAMA Oncol. 2018. 2.Chin PD, et al. Endocrin Pathol. 2020. 3.Jug R, et al. Cancer Cytopathol. 2020. 4.Guan H, et al. Thyroid. 2020. 5.Chen T, et al. Thyroid. 2020. 6.Schatz-Siemers N, et al. Diagn Cytopathol. 2019. 7.Desai D, et al. Cancer Cytopathol. 2020. 8.Zhu CY, et al. Thyroid. 2020. 9.UPMC, data on file. 10.Nikiforova MN, et al. Cancer. 2018. 11.Carty SE, et al. Ann Surg. 2020 12.Nikiforova MN, et al. Cancer Cytopathol. 2020.

Thyroid Cytology Smear Slides: An Untapped Resource for ThyroSeq® Testing

Molecular testing of thyroid nodules with indeterminate fine-needle aspiration (FNA) cytology is commonly used to guide patient management and is typically performed on freshly collected FNA samples. In this study, the authors evaluated the performance of the ThyroSeq® test in cytology smear slides.

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Performance of a Multigene Genomic Classifier in Thyroid Nodules With Indeterminate Cytology: A Prospective Blinded Multicenter Study

In this prospective, blinded, multicenter study, ThyroSeq® GC demonstrated a high sensitivity/NPV and reasonably high specificity/PPV, which may obviate diagnostic surgery in up to 61% of patients with Bethesda III-IV indeterminate nodules, and up to 82% of all benign nodules with indeterminate cytology. Information on specific genetic alterations obtained from FNA may help inform individualized treatment of patients with a positive test result.

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Limitations of Detecting Genetic Variants from the RNA-Seq Data in Tissue and FNA Samples

Genetic profiling of resected tumor or biopsy samples is increasingly used for cancer diagnosis and selecting therapy for thyroid and other cancer types. Although mutations occur in cell DNA and are typically detected using DNA sequencing, recent attempts focused on detecting pathogenic variants from RNA.


Read full article






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Learn about ThyroSeq®

Dr. Steven P. Hodak, Professor of Medicine and Endocrinology at NYU School of Medicine and Director of Endocrinology, NYU Langone Medical Center, Tisch Hospital, discusses the use of ThyroSeq® test for thyroid nodules with indeterminate cytology.

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