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MEN1 Gene Sequencing Analysis (Endocrine Sciences)

MEN1 Gene, Sequencing Analysis (Endocrine Sciences)
MEN1 Gene Sequencing Analysis (Endocrine Sciences)
CPT: 81405
Updated on 12/9/2019
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Synonyms

  • Multiple Endocrine Neoplasia Type 1

Special Instructions

Test orders for MEN1 Gene Sequencing Analysis must include an attestation that the provider has the patient's informed consent for genetic testing. See sample physician office consent form: Consent for Genetic Testing.


Expected Turnaround Time

14 - 28 days


Specimen Requirements


Specimen

Whole blood


Volume

3 mL


Container

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


Storage Instructions

Maintain specimen at room temperature. Stability: Room temperature for 28 days; refrigerated for 28 days


Causes for Rejection

Hemolysis; frozen specimen


Test Details


Use

Multiple endocrine neoplasia type 1 (MEN1) is a hereditary cancer syndrome characterized by specific endocrine tumors, primarily in the parathyroid glands, pancreatic islets or gastroenteropancreatic (GEP) tract, and the anterior pituitary.

MEN1 is inherited as an autosomal dominant disease, with a 50% risk of carrying the defective gene in first-degree relatives. MEN1 mutations that disrupt the coding sequence or splice sites can be detected in 80% to 90% of familial MEN1, and in approximately 65% of simplex MEN1 (patients without a family history for the disease).

MEN1 has a high level of penetrance with disease onset as early as five years. By age 50, most carriers manifest clinical (80%) and biochemical (>98%) symptoms. Testing for MEN1 mutations could improve prognosis by allowing earlier detection of tumors and targeted treatment for identified carriers. On the other hand, the burden of undergoing biochemical and radiological screening can be removed in family members for whom a diagnosis of MEN1 can be excluded by molecular diagnostic testing.


Limitations

Mutations that are not in exons 2 through 10 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 MEN1 gene copy number.


Methodology

Polymerase chain reaction (PCR) of targeted MEN1 gene exons, DNA sequencing of those PCR products


References

Brandi ML, Gagel RF, Angeli A, et al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab. 2001 Dec; 86(12):5658-5671. 11739416
Lemos MC, Thakker RV. Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene. Hum Mutat. 2008 Jan; 29(1): 22-32. 17879353
Thakker RV, Newey PJ, Walls GV, et al. Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J Clin Endocrinol Metab. 2012 Sep; 97(9): 2990-3011. 22723327

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
504010 MEN1 Gene, Sequencing Analysis 504015 MEN1 Gene Sequencing 49549-9
504010 MEN1 Gene, Sequencing Analysis 504011 MEN1 Gene Sequencing Result 41089-4
504010 MEN1 Gene, Sequencing Analysis 504012 Interpretation 35288-0
504010 MEN1 Gene, Sequencing Analysis 504013 MEN1 Comment 8251-1

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CPT Statement/Profile Statement

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