RET Gene Mutations (6 Exons) Test Cost & Procedure

RET Gene Mutations (6 Exons): What Is It?

The RET Gene Mutations (6 Exons) test is used to identify RET gene mutations that cause unregulated cell proliferation and division, which results in the development of malignancies. This gene is necessary for the healthy growth of the kidneys, enteric neurons, autonomic nervous system, and spermatogenesis. This test aids in the detection of diseases like non-syndromic paraganglioma, Hirschsprung disease, lung cancer, multiple endocrine neoplasia, and thyroid carcinoma that are brought on by RET gene abnormalities

The purpose of RET Gene Mutations (6 Exons)

To screen those at high risk for developing multiple endocrine neoplasia or medullary thyroid cancer, such as those who have close relatives who have already developed these malignancies

Screening of six risk exons of the RET proto-oncogene in families with medullary thyroid carcinoma in the Czech Republic

Abstract

75 percent of cases of medullary thyroid carcinoma (MTC) are random, while 25 percent are associated with familial MTC (FMTC) or multiple endocrine neoplasia type 2 (MEN2) syndromes. It is known that most family variants are caused by germ-line mutations in the RET proto-exons oncogene's 10, 11, 13, 14, and 15 and exon 16 respectively.

In this article, we provide the results of molecular genetic testing performed on 358 individuals from 106 families with MTC in the Czech Republic, during which we directly sequenced these six exons of the RET proto-oncogene. In 100% of MEN2B families , 90% of MEN2A families , 40% of FMTC families , and 7% of MTC cases that appeared to be sporadic , we found germ-line mutations.

There were found to be eleven distinct germ-line mutations. Exon 16 mutation Met918Thr was linked to MEN2B. Along with this mutation, the yet-unreported Tyr791 Phe was also discovered in one MEN2B family. MEN2A was only found in exon 11 with certain mutations (codon 634). Mutations in exons 10, 11, 13, and 14 have been found in FMTC and "sporadic" MTC families. There are links between genetics and phenotype. Genetic testing identified 23 index patients, 24 family members, and 53 relatives who did not have germ-line mutations