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LOINC Code 94211-0: NPC1 gene+NPC2 gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)

94211-0 is a LOINC code used to identify NPC1 gene+NPC2 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 NPC1 gene+NPC2 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 NPC1 gene+NPC2 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

NPC1 gene+NPC2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
NPC1 gene+NPC2 gene deletion+duplication & full mutation analysis
Full gene sequence analysis is performed to detect the presence of a mutation in all coding regions and intron/exon boundaries of the NPC1 and NPC2 genes. In addition, deletion/duplication analysis, such as by multiplex ligation-dependent probe amplification (MLPA), detects presence of large deletions or duplications in these genes. Testing is performed to diagnosis Niemann-Pick type C (NPC), an inherited disorder of cholesterol transport that results in a build up accumulation of cholesterol and glycosphingolipids in the endosomal/lysosomal system.[GHR geneNPC1][GHR gene:NPC2]
Amplification; Blood; Del; Del+Dup; Del+Dup + Full Mut Anl; Deletions; Document; Dp; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; Mut; Mutations; Niemann-Pick disease, type C1; NPC; NPC intracellular cholesterol transporter 1; NPC1+NPC2; PCR; POGZ; Point in time; Random; sequencing of entire coding region; SLC65A1; 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

NPC1 gene+NPC2 gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)NPC1 gene+NPC2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics methodNPC1+NPC2 Del+Dup + Full Mut Anl Bld/TNPC1 gene+NPC2 gene deletion+duplication & full mutation analysisMOLPATHNPC1 gene+NPC2 gene variant analysis, Blood or tissue specimenFind

Frequently asked questions

Code details

Code94211-0
SystemLOINC
Display nameNPC1 gene+NPC2 gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)
DescriptionNPC1 gene+NPC2 gene deletion+duplication & full mutation analysis
Short nameNPC1+NPC2 Del+Dup + Full Mut Anl Bld/T
ComponentNPC1 gene+NPC2 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

NPC1 gene+NPC2 gene variant analysis, Blood or tissue specimen

Part names

NPC1 gene+NPC2 gene deletion+duplication & full mutation analysisFindPtBld/TissDocMolgenNPC1 gene+NPC2 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 94211-0 | HealthAssure