82533-1
LaboratoryVHL gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
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].
LOINC 6-Axis Classification
Component
VHL gene deletion+duplication & full mutation analysis
Property
Find
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Doc
Method Type
Molgen
Details
Class
MOLPATH.MUT
Order/Observation
Both
Short Name
VHL gene Del+Dup + Full Mut Anl Bld/T
Display Name
VHL gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 82533-1?
LOINC code 82533-1 identifies "VHL gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method". 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].
What does 82533-1 measure?
This code measures VHL gene deletion+duplication & 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.