LOINCActiveBoth

LOINC Code 94206-0: MMACHC gene full mutation analysis Sequencing Doc (Bld/Tiss)

94206-0 is a LOINC code used to identify MMACHC 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 MMACHC 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 MMACHC 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

MMACHC gene full mutation analysis in Blood or Tissue by Sequencing
MMACHC gene full mutation analysis
Full gene sequence analysis to identify a mutation in the coding regions and intron/exon boundaries of the MMACHC gene. This test is performed to confirm the diagnosis of cblC type of methylmalonic aciduria with homocystinuria and distinguishing between cblD and cblF types.[GHR geneMMACHC]
Blood; Document; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; metabolism of cobalamin associated C; Molecular pathology; MOLPATH; Mut; Mutations; Next generation sequencing; NGS; Point in time; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; 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

MMACHC gene full mutation analysis Sequencing Doc (Bld/Tiss)MMACHC gene full mutation analysis in Blood or Tissue by SequencingMMACHC Full Mut Anl Bld/T SeqMMACHC gene full mutation analysisMOLPATHMMACHC gene variant analysis, Blood or tissue specimenFind

Frequently asked questions

Code details

Code94206-0
SystemLOINC
Display nameMMACHC gene full mutation analysis Sequencing Doc (Bld/Tiss)
DescriptionMMACHC gene full mutation analysis
Short nameMMACHC Full Mut Anl Bld/T Seq
ComponentMMACHC 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

MMACHC gene variant analysis, Blood or tissue specimen

Part names

MMACHC 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.

LOINC Code 94206-0 | HealthAssure