LOINCActiveBoth

LOINC Code 94229-2: MECP2 gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)

94229-2 is a LOINC code used to identify MECP2 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 MECP2 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 MECP2 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

MECP2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
MECP2 gene deletion+duplication & full mutation analysis
Full sequence analysis is performed to test for the presence of a mutation in all coding regions and intron/exon boundaries of the MECP2 gene. Deletion/duplication analysis, such as by multiplex ligation probe amplification (MLPA), is also performed. This test is used for diagnosing Rett syndrome or other methyl-CpG-binding protein 2 (MeCP2)-related disorders.[GHR geneMECP2]
Amplification; AUTSX3; Blood; Del; Del+Dup; Del+Dup + Full Mut Anl; Deletions; Document; Dp; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; Inherited; MeCP-2 protein gene; methyl CpG binding protein 2; Methyl CpG binding protein 2 gene; Molecular genetics; Molecular pathology; MOLPATH; MRX16; MRX79; MRXS13; MRXSL; Mut; Mutations; PCR; Point in time; PPMX; Random; Rett syndrome; RS; RTS; RTT; 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

MECP2 gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)MECP2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodMECP2 gene Del+Dup + Full Mut Anl Bld/TMECP2 gene deletion+duplication & full mutation analysisMOLPATHMECP2 gene variant analysis, Blood or tissue specimenFind

Frequently asked questions

Code details

Code94229-2
SystemLOINC
Display nameMECP2 gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)
DescriptionMECP2 gene deletion+duplication & full mutation analysis
Short nameMECP2 gene Del+Dup + Full Mut Anl Bld/T
ComponentMECP2 gene deletion+duplication & full mutation analysis
PropertyFind
TimingPt
System (specimen)Bld/Tiss
ScaleDoc
MethodMolgen
ClassMOLPATH
StatusACTIVE
Order/ObservationBoth

Flags

BillableNo
Valid clinical useNo

Source

SourceLOINC
Version2.82
Releasemain
First released2.68
Last changed2.68

Consumer names

MECP2 gene variant analysis, Blood or tissue specimen

Part names

MECP2 gene deletion+duplication & full mutation analysisFindPtBld/TissDocMolgenMECP2 gene deletion+duplication and full mutation analysisFindingPoint 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.

LOINC Code 94229-2 | HealthAssure