Multiple Endocrine Neoplasia Type 1: MEN1 Sequencing

Diagnostic Use

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.

Department

Genetics - Molecular Pathology

Delphic Registration Code

MOLP

Constituent Tests

• Genomic DNA Extraction

Synonyms

endocrine tumours
non endocrine tumours

Turnaround Time

4 weeks

Specimen Type

• Whole Blood

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

4.0

No of Samples Required

1

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

1.0

Minimum Sample Volume (ml)

0.5

Additional Specimen Information

This test requires nucleated cells. Please do not centrifuge or freeze blood samples.

Aliquot Instructions

Sample Type

• Whole Blood

Transport to Lab

Ambient (8 - 24 degrees Celsius)

Additional Referral/Aliquot Information

Please do not centrifuge or freeze blood samples.

Test Method

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

Contact Canterbury Health Laboratories on +64 3 364 0484 or email LabInfo@cdhb.health.nz

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

Contact Information

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