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Multiple Endocrine Neoplasia Type 1 via the MEN1 Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
7503 MEN1 81405 81405,81404 $540 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7503MEN181405 81405,81404 $540 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Turnaround Time

18 days on average for standard orders or 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Hannah Cox, PhD

Clinical Features and Genetics

Clinical Features

Multiple endocrine neoplasia type 1 (MEN1; OMIM 131100) is an autosomal dominant disorder distinguished by tumors of the parathyroid glands, pancreatic islet cells, and anterior pituitary gland (reviewed by Pannett and Thakker Endocrine-Related Cancer 6:449-473, 1999). Some patients with MEN1 may also develop adrenal cortical tumors, carcinoid tumors, facial angiofibromas, collagenomas, or lipomas. Neoplasia of endocrine glands typically leads to excessive hormone production. As a result, the clinical manifestations of MEN1 are clearly related to the sites of the tumors. For example, ~95% of patients exhibit hypercalcemia, nephrolithiasis, or osteitis fibrosa cystica due to parathyroid tumors; ~40% have recurrent peptic ulcers, hypoglycemia, or hyperglucagonaemia due to pancreatic tumors; and ~30% have hyperprolactinaemia, hypercorticism (i.e. Cushing’s syndrome), or acromegaly due to anterior pituitary tumors.

Genetics

Heterozygous germline variants in the menin gene (MEN1) predispose individuals to multiple endocrine neoplasia type 1 (MEN1). For mutant carriers, the penetrance of MEN1 is greater than 75% by the age of 25, and approaches 100% by the age of 60 (Pannett and Thakker. Endocr Relat Cancer 6(4): 449-73,1999). To date, at least 565 distinct causative variants have been found scattered throughout the MEN1 gene (Lemos and Thakker Hum Mut 29:22-32, 2008). Greater than 80% of these variants are inactivating (i.e. nonsense, frameshifts, splice-site), consistent with the role of MEN1 as a tumor suppressor gene (Larsson et al. Nature 332:85-87, 1988). Although the precise molecular function of the Menin protein is still not known, data from protein interaction studies suggest it is involved in many vital processes, including transcriptional regulation, DNA replication, and DNA repair (reviewed in Lemos and Thakker, 2008). In addition to familial cases of MEN1, heterozygous variants have also been found in patients with apparently sporadic cases of MEN1, as well as in patients diagnosed with familial isolated hyperparathyroidism (FIHP; OMIM 145000) (Warner et al. J Med Genet 41:155-160, 2004). Interestingly, ~40% of the causative variants found in FIHP cases are missense, compared to only ~20% for MEN1 (Lemos and Thakker, 2008). These observations suggest a likely association between weak missense variants and the mild clinical FIHP variant.

Clinical Sensitivity - Sequencing with CNV PG-Select

This test is predicted to detect a causative variant in ~50-95% of patients with autosomal dominant MEN1, ~70% of patients with sporadic or isolated MEN1, or ~20% of patients with FIHP (Agarwal et al. Hum Mol Genet 6:1169-1175, 1997; Teh et al. J Clin Endo Metab 83:2621-2626, 1998; Warner et al. J Med Genet 41(3): 155-60, 2004). Gross deletions of the MEN1 gene have been detected in up to 4% of patients (Falchetti et al. GeneReviews. 2010).

Testing Strategy

This test provides full coverage of all coding exons of the MEN1 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for this test are patients diagnosed with multiple endocrine neoplasia type 1 (MEN1) or familial isolated hyperparathyroidism (FIHP). This test is specifically designed for heritable germline variants and is not appropriate for the detection of somatic variants in tumor tissue.

Gene

Official Gene Symbol OMIM ID
MEN1 613733
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Multiple Endocrine Neoplasia, Type 1 AD 131100

Related Tests

Name
CDC73-Related Disorders via the CDC73 Gene
Familial Isolated Pituitary Adenoma via the AIP Gene
Primary Macronodular Adrenal Hyperplasia via the ARMC5 Gene

Citations

  • Agarwal, S. K., et.al. (1997). "Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states." Hum Mol Genet 6(7): 1169-75. PubMed ID: 9215689
  • Falchetti et al. GeneReviews. 2010
  • Lemos MC, Thakker RV. 2008. Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene. Hum. Mutat. 29: 22–32. PubMed ID: 2894610
  • Pannett, A. A., Thakker, R. V. (1999). "Multiple endocrine neoplasia type 1." Endocr Relat Cancer 6(4): 449-73. PubMed ID: 10730900
  • Teh, B. T., et.al. (1998). "Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism." J Clin Endocrinol Metab 83(8): 2621-6. PubMed ID: 9709921
  • Warner, J., et.al. (2004). "Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications." J Med Genet 41(3): 155-60. PubMed ID: 14985373

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
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