Multiple Endocrine Neoplasia Type 2 Syndrome, RET, Full Gene Analysis, Varies
Use
This test is useful for evaluating patients with a personal or family history suggestive of a multiple endocrine neoplasia type 2 (MEN2) or Hirschsprung disease (HSCR). It helps in establishing a diagnosis of MEN2 or HSCR, allowing for targeted cancer surveillance based on associated risks. Identifying variants within genes known to be associated with MEN2 or HSCR enables predictive testing of at-risk family members. Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for multiple endocrine neoplasia type 2 and Hirschsprung disease.
Special Instructions
Informed consent is required for New York clients. Document on the request form or electronic order that a copy is on file. It's important to contact Mayo Clinic Laboratories if a patient has had an allogeneic hematopoietic stem cell transplant as the presence of donor DNA may affect results. Additionally, if the test indicates that the MECP2 gene or Rett Syndrome is the reason for testing, MCP2Z / MECP2 Gene, Full Gene Analysis, Varies will be performed instead.
Limitations
Next-generation sequencing may not detect all types of genomic variants, and in rare cases, false-negative or false-positive results may occur. Technical limitations include variable coverage for some target regions, ineffective evaluation of regions of homology, high guanine-cytosine (GC) content, and repetitive sequences. This test is valid for detecting 95% of deletions up to 75 base pairs and insertions up to 47 base pairs. Bigger deletions or insertions are less reliably detected. The test is not designed to detect low levels of mosaicism or differentiate between somatic and germline variants.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 101386-1
- 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), acceptable green top (Sodium heparin)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Patient Preparation
A previous 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 |