LOINCActiveBoth

LOINC Code 82533-1: VHL gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)

82533-1 is a LOINC code used to identify VHL gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss) in laboratory and clinical observation data. You may see this code in lab systems, lab reports, EHR exports, interoperability feeds, or other structured clinical data exchanges. LOINC codes identify tests, measurements, observations, survey items, and clinical questions in a standardized way. It is associated with the component VHL gene deletion+duplication & full mutation analysis. It is commonly used with the system or sample type Bld/Tiss.

Reviewed by HealthAssure Clinical TeamUpdated 21 May 2026

What is this code?

LOINC codes identify tests, measurements, observations, survey items, and clinical questions in a standardized way. It is associated with the component VHL gene deletion+duplication & full mutation analysis. It is commonly used with the system or sample type Bld/Tiss.

When is it used?

  • Used in lab systems, EHRs, and clinical data exchange.
  • May identify a test, observation, survey item, or clinical document request rather than a diagnosis.
  • Status: ACTIVE
  • Order vs observation: Both
  • Method: Molgen

What it does not mean

  • The code identifies the observation or test, not the actual result.

Key facts

VHL gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
VHL gene deletion+duplication & full mutation analysis
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.[OMIM608537][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

Where you may see this code

You may see this code in lab systems, lab reports, EHR exports, interoperability feeds, or other structured clinical data exchanges.

Common synonyms

VHL gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)VHL gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodVHL gene Del+Dup + Full Mut Anl Bld/TVHL gene deletion+duplication & full mutation analysisMOLPATH.MUTVHL gene variant analysis, Blood or tissue specimenFind

Frequently asked questions

Code details

Code82533-1
SystemLOINC
Display nameVHL gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)
DescriptionVHL gene deletion+duplication & full mutation analysis
Short nameVHL gene Del+Dup + Full Mut Anl Bld/T
ComponentVHL gene deletion+duplication & full mutation analysis
PropertyFind
TimingPt
System (specimen)Bld/Tiss
ScaleDoc
MethodMolgen
ClassMOLPATH.MUT
StatusACTIVE
Order/ObservationBoth

Flags

BillableNo
Valid clinical useNo

Source

SourceLOINC
Version2.82
Releasemain
First released2.58
Last changed2.65

Consumer names

VHL gene variant analysis, Blood or tissue specimen

Part names

VHL gene deletion+duplication & full mutation analysisFindPtBld/TissDocMolgenFindingPoint in time (spot)Blood or TissueMolecular genetics

About this content

This page is prepared by HealthAssure's clinical team using official coding standards from LOINC. AI tools assist with drafting explanations, which are then reviewed and verified by healthcare professionals for accuracy. This content is for informational purposes and does not replace professional medical advice. Meet our team.