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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.
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.
Lavender-top (EDTA) tube or yellow-top (ACD) tube
Maintain specimen at room temperature. Stability: Room temperature for 28 days; refrigerated for 28 days
Hemolysis; frozen specimen
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.
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.
Polymerase chain reaction (PCR) of targeted MEN1 gene exons, DNA sequencing of those PCR products
|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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