Hereditary Endocrine Cancer Panel, Varies
Use
The Hereditary Endocrine Cancer Panel is useful for evaluating patients with a personal or family history suggestive of a hereditary endocrine tumor syndrome. Establishing a diagnosis through this test allows for targeted surveillance based on associated risks. It identifies genetic variants associated with increased risk for endocrine tumors, facilitating predictive testing and appropriate screening of at-risk family members. This information aids in diagnosis, prognosis, clinical management, familial screening, and genetic counseling.
Special Instructions
Customization of this panel and single gene analysis are available. For familial variant testing, contact the lab directly. Informed consent for genetic testing is required for New York clients. A previous bone marrow transplant may interfere with test results.
Limitations
Next-generation sequencing may not detect all genomic variants, and certain regions with high GC content or homology may not be effectively evaluated. The test is validated to detect most deletions up to 75 bp and insertions up to 47 bp, but larger variants may be missed. Technical limitations may result in variable coverage across target regions, potentially leading to false negatives. The test is not designed for low-level mosaicism detection or differentiation between somatic and germline variants. Single exon resolution may be limited due to sequencing coverage variability.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 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)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Patient Preparation
A bone marrow transplant from an allogenic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |