What does this LOINC code represent?

This LOINC code identifies a lab observation, measurement, question, or clinical concept in a standardized format.

Is this enough to understand my test result?

No. The code identifies the test or observation, but the interpretation depends on the actual result, reference range, and clinical context.

LOINCActiveBoth

LOINC Code 69478-6: AGXT gene del and dup mutation analysis MLPA Doc (Bld/Tiss)

Name: LOINC Code 69478-6: AGXT gene del and dup mutation analysis MLPA Doc (Bld/Tiss)
Creator: HealthAssure Clinical Team
Published: 2026-05-21T08:59:48.864Z

69478-6 is a LOINC code used to identify AGXT gene del and dup mutation analysis MLPA 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 AGXT gene 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 AGXT gene 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: MLPA

What it does not mean

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

Key facts

AGXT gene deletion and duplication mutation analysis in Blood or Tissue by MLPA

AGXT gene deletion+duplication

This term is used for testing the presence of large genomic duplications and deletions within the AGXT gene, which is associated with the primary hyperoxaluria type 1 (PH1) disorder.

2q37.3; AGT; AGT1; AGXT1; alanine-glyoxylate aminotransferase; Amplification; Blood; Del; Del+Dup; Deletions; Document; Dp; Finding; Findings; Genetics; Heredity; Heritable; Inherited; L-alanineglyoxylate aminotransferase 1; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; oxalosis I; PH1; Point in time; primary hyperoxaluria type 1; Random; serine:pyruvate aminotransferase; SPAT; SPT; Tissue; Tissue, unspecified; TLH6; 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

AGXT gene del and dup mutation analysis MLPA Doc (Bld/Tiss)AGXT gene deletion and duplication mutation analysis in Blood or Tissue by MLPAAGXT gene Del+Dup Bld/T MLPAAGXT gene deletion+duplicationMOLPATH.MUTAGXT gene deletion/duplication analysis, Blood or tissue specimenFind

Frequently asked questions

Code details

Code69478-6

SystemLOINC

Display nameAGXT gene del and dup mutation analysis MLPA Doc (Bld/Tiss)

DescriptionAGXT gene deletion+duplication

Short nameAGXT gene Del+Dup Bld/T MLPA

ComponentAGXT gene deletion+duplication

PropertyFind

TimingPt

System (specimen)Bld/Tiss

ScaleDoc

MethodMLPA

ClassMOLPATH.MUT

StatusACTIVE

Order/ObservationBoth

Flags

BillableNo

Valid clinical useNo

Source

SourceLOINC

Version2.82

Releasemain

First released2.40

Last changed2.66

Consumer names

AGXT gene deletion/duplication analysis, Blood or tissue specimen

Part names

AGXT gene deletion+duplicationFindPtBld/TissDocMLPAFindingPoint in time (spot)Blood or Tissue

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.