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 94204-5: HMBS gene full mutation analysis Sequencing Doc (Bld/Tiss)

Name: LOINC Code 94204-5: HMBS gene full mutation analysis Sequencing Doc (Bld/Tiss)
Creator: HealthAssure Clinical Team
Published: 2026-05-21T09:00:23.055Z

94204-5 is a LOINC code used to identify HMBS gene full mutation analysis Sequencing 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 HMBS gene 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 HMBS gene 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: Sequencing

What it does not mean

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

Key facts

HMBS gene full mutation analysis in Blood or Tissue by Sequencing

HMBS gene full mutation analysis

Full gene sequence analysis is performed to test for the presence of a mutation in all coding regions and intron/exon boundaries of the HMBS gene. Testing is performed to confirm a diagnosis of hydroxymethylbilane synthase deficiency/acute intermittent porphyria.[GHR geneHMBS]

Blood; Document; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; high-throughput sequencing; HTS; hydroxymethylbilane synthase; Inherited; Molecular pathology; MOLPATH; Mut; Mutations; Next generation sequencing; NGS; PBGD; PBG-D; Point in time; PORC; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; UPS; 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

HMBS gene full mutation analysis Sequencing Doc (Bld/Tiss)HMBS gene full mutation analysis in Blood or Tissue by SequencingHMBS Full Mut Anl Bld/T SeqHMBS gene full mutation analysisMOLPATHHMBS gene variant analysis, Blood or tissue specimenFind

Frequently asked questions

Code details

Code94204-5

SystemLOINC

Display nameHMBS gene full mutation analysis Sequencing Doc (Bld/Tiss)

DescriptionHMBS gene full mutation analysis

Short nameHMBS Full Mut Anl Bld/T Seq

ComponentHMBS gene full mutation analysis

PropertyFind

TimingPt

System (specimen)Bld/Tiss

ScaleDoc

MethodSequencing

ClassMOLPATH

StatusACTIVE

Order/ObservationBoth

Flags

BillableNo

Valid clinical useNo

Source

SourceLOINC

Version2.82

Releasemain

First released2.68

Last changed2.68

Consumer names

HMBS gene variant analysis, Blood or tissue specimen

Part names

HMBS gene full mutation analysisFindPtBld/TissDocSequencingFindingPoint 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.