Characteristics of the test: (includes 1 gene)
MEN1 (OMIM # 131100)
Main characteristics of the clinical phenotype:
Multiple endocrine neoplasia type I (MEN1) is an autosomal dominant disorder characterized by various combinations of tumors of the parathyroid glands, pancreatic islets, duodenal endocrine cells, and anterior pituitary. The disease has an overall probability of manifestation (penetrance) of 94% by age 50. Less common tumors include cancer of the lung, stomach, pancreas, lipoma, angiofibroma, thyroid adenoma, adrenal adenoma, angiomyolipoma, and spinal cord ependymoma.
Indications for referral:
80% to 90% of the patients diagnosed with familial MEN1 carry a mutation in the MEN1 gene. In sporadic (non-hereditary) cases, this percentage is around 65%.
In patients with already diagnosed MEN1, the main reason for referral is to provide the patient and his family with the opportunity to control and monitor the disease by establishing the possible family burden.
When testing for the diagnosis or prevention/control of the disease, the patient must meet the criteria for detecting cases of MEN1:
1. Typical cases:
- Presence of ≥2 of the main tumors (pituitary, pancreas, parathyroid glands)
- Early manifestation of the disease (under 35 years)
2. Atypical cases (at least one of the following):
- at least 2 of the MEN1-associated tumors
- multiple parathyroid tumors before 30 years of age
- recurrent hyperparathyroidism
- gastrinoma or multiple islet cell tumor at any age
- familial isolated hyperparathyroidism
3. Family history of MEN1 (or associated cancers)
Interpretation of results:
The detection of mutations in the MLH1/MSH2 genes allows the diagnosis of Multiple Endocrine Neoplasia (MEN).
The genetic counselor will interpret and answer all questions about your result.
Method: Sanger sequencing
The method involves bi-directional DNA sequencing of all coding exons and intron-exon boundaries of the MEN1 gene. The method involves bidirectional DNA sequencing of all coding exons and intron-exon boundaries of the MEN1 gene. The laboratory offers single exon or exon pair sequencing in relatives of patients to determine carrier status in cases where the mutation is known (Tests #182 and 183).
Sensitivity of the method: 99.5%
What does the test involve?
● DNA isolation and sample storage.
● Direct sequencing of target genes/gene regions to detect pathogenic mutations.
● Forming a written result of the genetic test.
● Diagnostic interpretation of results and genetic counseling.
Biological material: Venous blood or isolated DNA
For more information, please read the "Biological material requirements and shipping information" carefully.
