VHL gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method

VHL gene Del+Dup + Full Mut Anl Bld/T

Definition

Full sequencing analysis of the three coding exons and intron/exon boundaries of the VHL gene as well as gross deletion/duplication analysis to determine gene copy number for coding exons 1-3 is performed.[OMIM: 608537][NCBI Gene ID: 7428] This test is performed for patients with suspected of having von Hippel-Lindau (VHL) disease, an autosomal dominant cancer predisposition syndrome characterized by retinal angiomas, hemangioblastomas, pheochromocytomas (PCCs), renal cell carcinomas, pancreatic cysts, and neuroendocrine tumors.[PMID: 8493574] For genetic testing for suspected VHL-related erythrocytosis, or familial erythrocytosis, type 2 (ECYT2) disease, see VHL gene full mutation analysis [LOINC: 82528-1].

Amplification; Blood; Del; Del+Dup; Del+Dup + Full Mut Anl; Deletions; Document; Dp; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; HRCA1; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mutations; PCR; Point in time; pVHL; Random; RCA1; sequencing of entire coding region; Tissue; Tissue, unspecified; VHL1; von Hippel-Lindau syndrome; von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase; WB; Whole blood; Whole blood or Tissue