VHL Gene Mutation 3 Exons by Sequencing Test Cost & Procedure

A hereditary condition, von Hippel- Lindau syndrome (VHL) is a condition. It can create tumours in a variety of organs, including the kidneys, adrenal glands, spinal cord, and blood vessels. This illness results from a mutation in the VHL gene sequence

A patient's DNA is sequenced in this test, which a doctor orders to diagnose a hereditary condition in someone with a family history of VHL. The purpose of this examination is to glance for modifications in the VHL ordering. The patient has Von Hippel Lindau Syndrome if mutations in the VHL sequence are found

Identification of 3 exons VHL germ-line mutations

Abstract

The VHL ailment is a congenital cancer syndrome in which patients formulate clear-cell kidney tumors, pheochromocytomas, and hemangioblastomas of the retina and CNS. Mutations in the VHL gene are the cause of the autosomal dominant illness.

Methods

The coding arrangement was sequenced, and auditorium ligation-dependent examination amplification examination was accomplished to investigate VHL modifications. In silico projection techniques were utilized to investigate the functional consequence of the deviations.

Outcomes

The VHL gene has been tested for mutations in a total of 289 probands who are thought to have the VHL syndrome. One in-frame duplication, two frame-shift modifications, four stupidity modifications, twelve missense modifications, three intronic modifications, and four substantial genomic rearrangements were among the 26 distinct VHL variants found in 36 households. c.319 C > T, c.342 343dupGGT, and c.520 521dupAA were three of these mutations that were brand-new.

Conclusions

The VHL germ-line mutations discovered in Danish families are reported in this study. We discovered three novel VHL mutations, of which two were determined to be pathogenic and one to be a variation of unclear relevance. The evaluation of the possible pathogenicity of VHL germ-line mutations is influenced by all of our findings taken together.

Background

Von Hippel-Lindau (VHL) disease is a dominantly inherited cancer syndrome characterized by neuroendocrine tumors and cysts of the pancreas, pheochromocytomas, papillary cystadenomas of the epididymis and broad ligament, and central nervous system and retinal hemangioblastomas . Patients are organized as either VHL type 1 or 2 relying on whether they retain pheochromocytomas or not. A further three subcategories of type 2 patients are identified: type 2A patients with a low risk of renal cell carcinomas, type 2B patients with a high risk of renal cell carcinomas, and type 2 C patients with an isolated pheochromocytoma 

On the quick arm of chromosome 3, the VHL tumor suppressor gene is found. Germline mutations in this gene result in von Hippel-Lindau disease (3p25-26). The gene, which has a 10 kb length, has three exons and produces the proteins pVHL19 and pVHL30 . The 214 amino acids that make up the full VHL protein are divided into two structural domains called the domains