94194-8
LaboratoryCPOX gene full mutation analysis in Blood or Tissue by Sequencing
Definition
Full gene sequence analysis is performed to detect the presence of a mutation in the coding regions and intron/exon boundaries of the CPOX (coproporphyrinogen oxidase) gene. Mutations in this gene can cause two types of porphyria: hereditary coproporphyria (HCP) and a variant known as harderoporphyria.[GHR gene: CPOX]
LOINC 6-Axis Classification
Component
CPOX 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
CPOX Full Mut Anl Bld/T Seq
Display Name
CPOX gene full mutation analysis Sequencing Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 94194-8?
LOINC code 94194-8 identifies "CPOX gene full mutation analysis in Blood or Tissue by Sequencing". Full gene sequence analysis is performed to detect the presence of a mutation in the coding regions and intron/exon boundaries of the CPOX (coproporphyrinogen oxidase) gene. Mutations in this gene can cause two types of porphyria: hereditary coproporphyria (HCP) and a variant known as harderoporphyria.[GHR gene: CPOX]
What does 94194-8 measure?
This code measures CPOX 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.