Multiple endocrine neoplasia type 1 is caused by mutations in the MEN1 gene. MEN1 syndrome is inherited in an autosomal dominant manner. MEN1 includes a varying combination of more than 20 endocrine and non-endocrine tumours. Endocrine tumours associated with MEN1 syndrome include parathyroid tumours, pituitary tumours, endocrine tumours of the gastro-entero-pancreatic tract, carcinoid tumours and adrenocortical tumours. Non-endocrine tumours include facial angiofibromas, collagenomas, lipomas, meningiomas, ependymonas and leiomyomas. No genotype-phenotype correlations have been identified in MEN1 syndrome.
Genetics - Molecular Pathology
non endocrine tumours
This test requires nucleated cells. Please do not centrifuge or freeze blood samples.
Ambient (8 - 24 degrees Celsius)
Please do not centrifuge or freeze blood samples.
Exons 1-10 of the MEN1 gene are amplified using PCR and analysed by DNA sequencing.
Uncertainty of Measurement:
Automated bidirectional DNA sequencing has an analytical sensitivity and specificity of >99%. Note that the lower limit of variant detection of sequencing analysis is ~10%, this is important to consider in the case of mosaicism, mitochondrial, and somatic variation that is not expected to be present at 50% or 100%. This analysis will not detect variants located within intronic regions, except at the intron-exon boundaries.
Genomic DNA must be extracted from the specimen prior to testing. This incurs an additional charge (see GDNA). Laboratories may prefer to submit DNA for testing. Please provide a minimum of 5 micrograms of DNA at 20 nanograms/microlitre.
For deletion/duplication analysis of this gene refer to MLPA Testing
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