LabCorp and its Specialty Testing Group, a fully integrated portfolio of specialty and esoteric testing laboratories.
14 - 28 days
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
1 mL (Note: This volume does not allow for repeat testing.)
Lavender-top (EDTA) tube or yellow-top (ACD) tube
Maintain specimen at room temperature.
Hemolysis; frozen specimen
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
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.
|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|
© 2019 Laboratory Corporation of America® Holdings and Lexi-Comp Inc. All Rights Reserved.
The LOINC® codes are copyright © 1994-2018, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf