82528-1LOINC 2.82
VHL gene full mutation analysis in Blood or Tissue by Sequencing
VHL gene Full Mut Anl Bld/T Seq
Definition
- Full sequencing analysis of the three coding exons and intron/exon boundaries of the VHL gene.[OMIM: 608537][NCBI Gene ID: 7428] This test is performed for patients with suspected hereditary erythrocytosis, or familial erythrocytosis, type 2 (ECYT2)[OMIM: 263400], associated with lifelong increased RBC mass, elevated RBC count, hemoglobin, and hematocrit. Mutations in the VHL gene that cause ECYT2 are inherited in an autosomal recessive fashion and associated with normal to increased serum erythropoietin (EPO) levels. For genetic testing for von Hippel-Lindau (VHL) disease, see VHL gene deletion+duplication & full mutation analysis [LOINC: 82533-1].
Component
- VHL gene full mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- Find
Scale
- Doc
Method
- Sequencing
Related names
- Blood; Document; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; high-throughput sequencing; HRCA1; HTS; Inherited; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mutations; Next generation sequencing; NGS; 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
Index terms
- Blood
- Document
- Finding
- Findings
- full gene sequencing
- Full Mut Anl
- Genetics
- Heredity
- Heritable
- high-throughput sequencing
- HRCA1
- HTS
- Inherited
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Mut
- Mutations
- Next generation sequencing
- NGS
- 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