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Test Identifier Information

 
Registration CodeMPST
Method

Exons 1-10 of the MEN1 gene are amplified using PCR and analysed by DNA sequencing.

Diagnostic Use / Indications

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.

Constituent TestsGenomic DNA Extraction ;
External Price$0.00(Exclusive of GST)
  

Specimen Collection

 
Patient Specimen4.0mL EDTA,
Paediatric Specimen0.5 mL - 1 mL EDTA blood
Sample Delivery to LabSame day or overnight courier, ambient temperature.
  

CHLabs Laboratory

 
DepartmentBiochemistry - Molecular Pathology
Contact Details Email Email
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Contact Phone Number03 3640 548
Test Availability9am to 5pm, Monday to Friday
Turnaround TimeWithin 4 weeks
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.

Additional Information
  1. This test requires nucleated cells. Please do not centrifuge or freeze blood samples.
  2. 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.
  3. For deletion/duplication analysis of this gene refer to MLPA Testing
Delphic Number Test Number7302

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