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909 Analysis of 16 mutations of RET gene – genetic predisposition for medullary thyroid cancer

The test covers the analysis of 16 mutations of  RET gene  responsible for approximately 95% of cases of hereditary form of medullary thyroid cancer. Approximately 20% of cases of medullary thyroid cancer are internal family cases, and in ca. 7% of sporadic cases of this neoplasm, also hereditary mutation in RET is detected.

Mutations in RET gene may be connected with several syndromes of hereditary neoplasm. This form of neoplasm may develop without the accompanying endocrine diseases or it may be connected with multiple polyendocrine adenomatosis syndromes (syndromes MEN2A and MEN2B). Mutations in RET gene characteristic for MEN 2A syndrome are connected with development of numerous endocrine gland cancers, and most of the affected patients also develop medullary thyroid cancer.

MEN2B syndrome is also connected with development of numerous endocrine gland cancers and numerous neuroma. Medullary cancer is characterized with high aggressiveness in that syndrome. Detecting genetic mutations, responsible for hereditary form of this neoplasm is of vital importance, as it influences further therapy and prognosis. Diagnosing locations of the most frequent mutations facilitates detecting congenital family-inherited form of thyroid cancer before the neoplasm can develop. Thanks to conducting systematic monitoring of people with genetic predisposition, it is possible to detect the disease at an early stage which substantially increases the probability of complete recovery.

Test material: full blood (EDTA), cheek swab

Transfer method: blood: 4-10°C (a set for blood tests); cheek swab: room temperature (a set for cheek swabs)

Testing method: Direct sequencing of respective gene’s fragments

Delivery date: up to 10 business days