AutoICD API

94233-4

Laboratory

FECH gene full mutation analysis in Blood or Tissue by Sequencing

Definition

Full gene sequence analysis of the FECH (ferrochelatase) gene to identify pathogenic mutations associated with erythropoietic protoporphyria (EPP).[GHR gene: FECH]

LOINC 6-Axis Classification

Component

FECH gene full mutation analysis

Property

Find

Time Aspect

Pt

System

Bld/Tiss

Scale Type

Doc

Method Type

Sequencing

Details

Class

MOLPATH

Order/Observation

Both

Short Name

FECH gene Full Mut Anl Bld/T Seq

Display Name

FECH gene full mutation analysis Sequencing Doc (Bld/Tiss)

Related Names

BloodDocumentEPPFCEferrochelataseFindingFindingsfull gene sequencingFull Mut AnlGeneticsHeredityHeritablehigh-throughput sequencingHTSInheritedMolecular pathologyMOLPATHMutMutationsNext generation sequencingNGSPoint in timeRandomsequencing of entire coding regionTissueTissue, unspecifiedWBWhole bloodWhole blood or Tissue

Frequently Asked Questions

What is LOINC code 94233-4?

LOINC code 94233-4 identifies "FECH gene full mutation analysis in Blood or Tissue by Sequencing". Full gene sequence analysis of the FECH (ferrochelatase) gene to identify pathogenic mutations associated with erythropoietic protoporphyria (EPP).[GHR gene: FECH]

What does 94233-4 measure?

This code measures FECH gene full mutation analysis in Bld/Tiss. It belongs to the MOLPATH class in the LOINC classification.

What is LOINC?

LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.