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Multiple Endocrine Neoplasia 2A, 2B (sequence of exons 10, 11)

Endocrinology 02.001

Multiple Endocrine Neoplasia 2A, 2B (sequence of exons 10, 11)

MEN2A

Signs/symptoms: Cancer
Complications: Medullary thyroid carcinoma, pheochromocytomas,parathyroid tumors
Early diagnosis/treatment: Yes
Multiple endocrine neoplasia type 2A can be subclassified as: (1) medullary thyroid carcinoma with pheochromocytomas and parathyroid tumors; (2) medullary thyroid carcinoma with pheochromocytomas alone; or (3) medullary thyroid carcinoma with parathyroid tumors alone. Hereditary medullary thyroid carcinoma alone may be a fourth phenotype resulting, in some instances, from mutation at the MEN2 locus.

Material required:

Blood tubes: EDTA whole blood (do not freeze, do not centrifugate)
Mouth brush: No
Chromosomal localization: 10q11.2 OMIM number: 164761

RET transforming sequence (sequence of exons 10, 11)

RET

Gene regions tested:

Gene regions: exons 10, 11, 13, 14, 16
Amino acid positions:
Nucleotide positions:
Test methods: Sequencing

Prices:

Switzerland:

8820.00 8811.01 8819.01 8810.19
  TP REVAL: 1200 TP Value: 0.9 CHF 1080.00
Other europe: EUR 850.00
Other regions: USD call

References:

Plaza-Menacho I, Burzynski GM, de Groot JW, Eggen BJ, Hofstra RM. Current concepts in RET-related genetics, signaling and therapeutics. Trends Genet. 2006;22:627-636.

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