82528-1
LaboratoryVHL gene full mutation analysis in Blood or Tissue by Sequencing
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].
LOINC 6-Axis Classification
Component
VHL gene full mutation analysis
Property
Find
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Doc
Method Type
Sequencing
Details
Class
MOLPATH.MUT
Order/Observation
Both
Short Name
VHL gene Full Mut Anl Bld/T Seq
Display Name
VHL gene full mutation analysis Sequencing Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 82528-1?
LOINC code 82528-1 identifies "VHL gene full mutation analysis in Blood or Tissue by Sequencing". 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].
What does 82528-1 measure?
This code measures VHL gene full mutation analysis in Bld/Tiss. It belongs to the MOLPATH.MUT class in the LOINC classification.
What is LOINC?
LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.