Hereditary Thyroid Cancer Panel, Varies
Use
This test is 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, and identifying genetic variants associated with increased risk for thyroid and other cancers. This enables predictive testing and appropriate screening of at-risk family members.
Special Instructions
NY clients require informed consent documented on the request form or electronic order. The test is validated to detect 95% of deletions up to 75 bp and insertions up to 47 bp. Performance may be lower in some regions due to technical limitations.
Limitations
Next-generation sequencing may not detect all types of genomic variants. Variability in coverage may result in missed target regions. Delins of 40 or more bp may be less reliably detected. Cannot detect low mosaicism or differentiate between somatic and germline variants. Limited by technical challenges such as homology, GC content, or repetitive sequences.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 106780-0
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 99622-3
- 48767-8
- 85069-3
- 48018-6
- 18771-6
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender top (EDTA) or yellow top (ACD), Green top (Sodium heparin) also acceptable
Collection Instructions
Invert several times to mix blood. Send specimen in original tube. Do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere. Call for instructions if applicable.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |