MEN1 Gene Mutation -7 Exons by Sequencing Test Cost & Procedure

DNA splicing in the p16 gene is discovered using melanoma p16 gene sequencing. This gene serves as a marker for melanomas because it is deleted from a variety of tumour cell lines, including melanomas.

Why is this examination suggested?

• The inherited tumour syndrome known as multiple endocrine neoplasia type 1 (MEN1) expresses a variety of endocrine and non-endocrine diseases and tumours.
• When a MEN1 mutation is discovered in a patient, it can have significant clinical ramifications for their relatives because it enables very early disease diagnosis and carrier identification, even before biochemical and/or clinical manifestation, allowing for their inclusion in a particular programme of surveillance and subsequently receiving praecox therapy.
• Currently, sequencing of the MEN1 gene's coding sections and intron-exon junctions is the main component of MEN1 genetic testing.

How is this test Done?

• Your doctor will conduct a physical examination, go over your medical history, and inquire about your family history to determine if you have multiple endocrine neoplasias, type 1 (MEN 1).
• You might undergo imaging tests and a blood test, such as the ones listed below:
  • CT scan using computerized tomography (CT) or magnetic resonance imaging (MRI).
• Its 1830–1845 bp–long coding region codes for two isoforms of the novel protein menin, which has 610–615 amino acids.
• More than 1000 distinct germline MEN1 mutations have been identified, most of which predispose to Menin that is missing or truncated and lacks hot-spot areas.
• Large deletions are present in 1-3% of MEN1 germline mutations, and they can be found using Southern blot analysis or other gene dosage techniques (i.e., based on polymerase chain reaction)
• Polymorphic variants have also been documented.
• The ultimate routes of menin action in healthy tissues or malignancies have not been determined by the discovery of a tumour suppressor mechanism or the discovery of binding partners.