LOINCActiveBoth

LOINC Code 82246-0: 22q11.2 del and dup mutation analysis FISH Doc (Bld/Tiss)

82246-0 is a LOINC code used to identify 22q11.2 del and dup mutation analysis FISH 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 Chromosome region 22q11.2 deletion+duplication. 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 Chromosome region 22q11.2 deletion+duplication. 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: FISH

What it does not mean

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

Key facts

  • Chromosome region 22q11.2 deletion and duplication mutation analysis in Blood or Tissue by FISH
  • Chromosome region 22q11.2 deletion+duplication
  • Amplification; Blood; CATCH22; Chr 22q11.2; Chr 22q11.2 deletion; Chromosom; Chromosomes; Cyto loc; Del; Del+Dup; Deletions; DiGeorge Syndrome; Document; Dp; Finding; Findings; Fluorescent in situ hybridization; Genetics; Heredity; Heritable; Inherited; Molecular pathology; MOLPATH; MOLPATH.DELDUP; Point in time; Random; Tissue; Tissue, unspecified; Velo Cardio Facial Syndrome; 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

22q11.2 del and dup mutation analysis FISH Doc (Bld/Tiss)Chromosome region 22q11.2 deletion and duplication mutation analysis in Blood or Tissue by FISHChr 22q11.2 Del+Dup Bld/T FISHChromosome region 22q11.2 deletion+duplicationMOLPATH.DELDUP22q11.2 deletion/duplication analysis, Blood or tissue specimenFind

Frequently asked questions

Code details

Code82246-0
SystemLOINC
Display name22q11.2 del and dup mutation analysis FISH Doc (Bld/Tiss)
DescriptionChromosome region 22q11.2 deletion+duplication
Short nameChr 22q11.2 Del+Dup Bld/T FISH
ComponentChromosome region 22q11.2 deletion+duplication
PropertyFind
TimingPt
System (specimen)Bld/Tiss
ScaleDoc
MethodFISH
ClassMOLPATH.DELDUP
StatusACTIVE
Order/ObservationBoth

Flags

BillableNo
Valid clinical useNo

Source

SourceLOINC
Version2.82
Releasemain
First released2.56
Last changed2.67

Consumer names

22q11.2 deletion/duplication analysis, Blood or tissue specimen

Part names

Chromosome region 22q11.2 deletion+duplicationFindPtBld/TissDocFISHFindingPoint in time (spot)Blood or TissueFluorescent in situ hybridization (FISH)

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.