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HelpTest Code RETZZ Multiple Endocrine Neoplasia Type 2 Syndrome, RET, Full Gene Analysis, Varies
Ordering Guidance
For a comprehensive hereditary cancer panel that includes the RET gene, consider 1 of the following:
-ENDCP / Hereditary Endocrine Cancer Panel, Varies
-HPGLP / Hereditary Paraganglioma/Pheochromocytoma Panel, Varies
-THYRP / Hereditary Thyroid Cancer Panel, Varies
Testing for the RET gene as part of a customized panel is available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.
Targeted testing for familial variants (also called site-specific or known mutations testing) is available for this gene. For more information see FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
If the reason for testing indicates the MECP2 gene or Rett Syndrome, order MCP2Z / MECP2 Gene, Full Gene Analysis, Varies. If this test is ordered in this situation, it will be canceled and MCP2Z ordered and performed as the appropriate test.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710.
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated
Additional Information: To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Molecular Genetics: Inherited Cancer Syndromes Patient Information (T519)
3. If not ordering electronically, complete, print, and send a Oncology Test Request (T729) with the specimen.
Useful For
Evaluating patients with a personal or family history suggestive of a multiple endocrine neoplasia type 2 (MEN2) or Hirschsprung disease (HSCR)
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 allowing for predictive testing of at-risk family members
Special Instructions
Method Name
Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing.
Reporting Name
RET Full Gene AnalysisSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Reference Values
An interpretive report will be provided.
Interpretation
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(7) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Clinical Reference
1. Eng C: Multiple endocrine neoplasia type 2. In: Adam MP, Everman DB, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 1999. Updated August 10, 2023. Accessed April 26, 2024. Available at www.ncbi.nlm.nih.gov/books/NBK1257/
2. Â Wells SA Jr, Asa SL, Dralle H, et al. Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma. Thyroid. 2015;25(6):567-610. doi:10.1089/thy.2014.0335
3. Moline J, Eng C: Multiple endocrine neoplasia type 2: an overview. Genet Med. 2011;13(9):755-764
4. Haddad RI, Nasr C, Bischoff L, et al. NCCN guidelines insights: Thyroid carcinoma, version 2.2018. J Natl Compr Canc Netw. 2018;16(12):1429-1440
5. Ruiz-Ferrer M, Fernandez RM, Antinolo G, et al. A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypes. Genet Med. 2006;8(11):704-710
6. de Pontual L, Pelet A, Trochet D, et al. Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus. J Med Genet. 2006;43(5):419-423
7. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424
Day(s) Performed
Varies
Report Available
14 to 21 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81406
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| RETZZ | RET Full Gene Analysis | 101386-1 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 614839 | Test Description | 62364-5 |
| 614840 | Specimen | 31208-2 |
| 614841 | Source | 31208-2 |
| 614842 | Result Summary | 50397-9 |
| 614843 | Result | 82939-0 |
| 614844 | Interpretation | 69047-9 |
| 614845 | Resources | 99622-3 |
| 614846 | Additional Information | 48767-8 |
| 614847 | Method | 85069-3 |
| 614848 | Genes Analyzed | 48018-6 |
| 614849 | Disclaimer | 62364-5 |
| 614850 | Released By | 18771-6 |