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MEN2: RET Gene Sequencing Analysis (Endocrine Sciences)

MEN2: RET Gene, Sequencing Analysis (Endocrine Sciences)
MEN2: RET Gene Sequencing Analysis (Endocrine Sciences)
CPT: 81405
Updated on 12/9/2019
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Expected Turnaround Time

14 - 28 days

Related Documents

Specimen Requirements


Whole blood


3 mL

Minimum Volume

1 mL (Note: This volume does not allow for repeat testing.)


Lavender-top (EDTA) tube or yellow-top (ACD) tube

Storage Instructions

Maintain specimen at room temperature.

Stability Requirements



Room temperature

28 days


28 days

Causes for Rejection

Hemolysis; frozen specimen

Test Details


This test can be used to identify genetic variations in the RET gene that are causative for MEN2. Germline mutations in the RET gene on chromosome 10 are causative for multiple endocrine neoplasia, type 2 (MEN2), a monogenic, autosomal-dominant hereditary cancer syndrome. The vast majority (>95%) of MEN2 cases have RET gene mutations in exons 10, 11, 13, 14, 15, or 16. MEN2 is characterized by the development of medullary thyroid carcinoma (MTC) and sometimes includes pheochromocytoma (PHEO) and hyperparathyroidism (HPT).


Mutations that are not in exons 10, 11, 13, 14, 15, or 16 are not analyzed and will not be detected. Polymorphisms at PCR primer target sites may lead to false-negative results. This method will not detect changes in RET gene copy number.


Polymerase chain reaction (PCR) of targeted RET gene exons, DNA sequencing of those PCR products

Additional Information

MEN2 historically has been divided into three subtypes. MEN2A, the most common subtype (90%), is associated with intermediate-onset MTC. MEN2A may also manifest PHEO and HPT. MEN2B, comprising about 5% of MEN2, is associated with early-onset MTC. MEN2B may also manifest PHEO but not HPT. MEN2B also shows neural, skeletal, and muscular features not found in other types of MEN2. Familial medullary thyroid carcinoma (FMTC), the third MEN2 subtype, comprises about 5% of cases and is associated with late-onset MTC. FMTC does not manifest PHEO or HPT. RET gene mutation analysis is useful to identify the disease-causing mutation in MEN2 families. Ideally, this test is performed on an affected individual (proband) in the suspected or defined MEN2 family, If a RET gene mutation is identified in the proband, testing for the specific family mutation may be offered to appropriate at-risk relatives. Please contact Endocrine Sciences at 877-436-3056 for more information.


Eng C. RET proto-oncogene in the development of human cancer. J Clin Oncol. 2006;17(1):380-393. 10458257
Eng C. Seminars in medicine of the Beth Israel Hospital, Boston. The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease. N Engl J Med. 1996; 335(13):946-951. 8782503
Hansford JR, Mulligan LM. Multiple endocrine neoplasia type 2 and RET: From neoplasia to neurogenesis. J Med Genet. 2000; 37(11):817-827. 11073534


Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
504008 MEN2: RET Gene Sequencing 503561 RET Men2 Header N/A
504008 MEN2: RET Gene Sequencing 503562 RET Result 21733-1
504008 MEN2: RET Gene Sequencing 503563 RET Interpretation 40693-4
504008 MEN2: RET Gene Sequencing 503564 RET Comment N/A

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