Hereditary Thyroid Cancer Panel, Sequencing and Deletion/Duplication
Also known as: THYCAN NGS
Use
The Hereditary Thyroid Cancer Panel, Sequencing and Deletion/Duplication test is recommended for individuals with a personal or family history of thyroid cancer to confirm a hereditary cause. Hereditary thyroid cancer is often characterized by an early onset before age 50, the presence of multiple related thyroid cancers, and/or similar cancers in family members. Approximately 5% of thyroid cancers are associated with a hereditary cause, with pathogenic germline variants in specific genes contributing to these conditions. The test targets genes known to be implicated in hereditary thyroid cancer syndromes, such as medullary thyroid carcinoma and pheochromocytoma.
Special Instructions
Informed consent for genetic testing is required for New York patients. Additionally, the Hereditary Cancer Testing Patient History Form should be submitted with the order. It is important to confirm if NPL (Non-Permitted Laboratory) approval is required for New York State clients before specimen collection. Genetic consultation and a discussion of medical screening and management are recommended based on the test results.
Limitations
A negative result does not exclude a heritable form of thyroid cancer or other cancer. The test only detects variants within the coding regions and exon-intron boundaries of the targeted genes. Variants in non-coding regions, deep intronic variants, and regulatory regions are not analyzed. Additionally, the test may have limitations in detecting insertions, duplications, and deletions of certain sizes. Specifically, single exon deletions have reduced sensitivity. Technical limitations may also arise from pseudogenes, repetitive, or homologous regions, potentially impacting variant identification. This test is not designed to detect somatic variants, mosaicism, gene conversion, complex inversions, translocations, mitochondrial DNA variants, or repeat expansions.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 66746-9
- 50398-7
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
2 mL
Container
Lavender or pink (EDTA) or yellow (ACD Solution A or B)
Collection Instructions
New York State Clients: Lavender (EDTA)
Storage Instructions
Refrigerated
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimen; saliva; buccal brush, or swab; FFPE tissue.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |