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Multiple Endorine Neoplasia Type 2
Short Description : Multiple endocrine neoplasia type 2 genetic testing
Also known as : [Familial Medullary Thyroid Carcinoma (FMTC)],[Mucosal Neuroma Syndrome],[Multiple Endocrine Neoplasia Type 2A (Sipple Syndrome)],[Multiple Endocrine Neoplasia Type 2B (Mucosal Neuroma Syndrome)],[Sipple Syndrome]


DNA/RNA
Test performed by: LabPLUS - Dept. Diagnostic Genetics - Molecular Genetics


Referral Requirements

Important Note:

All tests through Endocrinology or Genetic Services only.

Contacts:

Endocrinology can be contacted on (09) 307 4949 ext. 26850.

Genetic Health Service NZ can be contacted on 0800 476 123.

 


Specimen Collection
EDTA8 mL Adult EDTA Blood
EDTA4 mL Paediatric EDTA Blood

Note:

For paediatric samples a minimum of 0.5ml blood EDTA can be processed. (Microcollect)

Transport all bloods at room temperature within 24-48 hours. If necessary specimens can be refrigerated overnight for transport at room temperature the following day.

For testing of other sample types please contact the laboratory prior to sending.


Turnaround Time: Within 13 weeks
Contact Information

Contact Molecular Genetics via:

Lablink                                                     ext 22000

Mark Greenslade (Technical Head)   ext 22010

Pippa Grainger (Section leader)              ext 22014

Email: DGen@adhb.govt.nz




Background Information

Multiple endocrine neoplasia type 2 (MEN 2) is classified into three subtypes: MEN 2A, FMTC (familial medullary thyroid carcinoma), and MEN 2B. All three subtypes involve high risk for development of medullary carcinoma of the thyroid (MTC); MEN 2A and MEN 2B have an increased risk for pheochromocytoma; MEN 2A has an increased risk for parathyroid adenoma or hyperplasia. Additional features in MEN 2B include mucosal neuromas of the lips and tongue, distinctive facies with enlarged lips, ganglioneuromatosis of the gastrointestinal tract, and an asthenic 'Marfanoid' body habitus. MTC typically occurs in early childhood in MEN 2B, early adulthood in MEN 2A, and middle age in FMTC.

RET is the only gene known to be associated with MEN type 2. Molecular genetic testing of the RET gene identifies disease-causing mutations in 98% of individuals with MEN 2A, more than 98% of individuals with MEN 2B, and in about 95% of families with FMTC. 

Molecular genetic testing for RET is available.

For more information about the Molecular Genetics service:

Molecular Genetics information page


Last updated at 15:49:04 22/03/2021