94210-2
LaboratoryARSB gene full mutation analysis in Blood or Tissue by Sequencing
Definition
Full gene mutation analysis of all 8 exons in the ARSB gene is performed for the confirmation of a diagnosis of mucopolysaccharidosis type VI, an autosomal recessive condition characterized by reduced or absent activity of the arylsulfatase B enzyme due to mutations in the ARSB gene.[GHR gene: ARSB]
LOINC 6-Axis Classification
Component
ARSB 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
ARSB Full Mut Anl Bld/T Seq
Display Name
ARSB gene full mutation analysis Sequencing Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 94210-2?
LOINC code 94210-2 identifies "ARSB gene full mutation analysis in Blood or Tissue by Sequencing". Full gene mutation analysis of all 8 exons in the ARSB gene is performed for the confirmation of a diagnosis of mucopolysaccharidosis type VI, an autosomal recessive condition characterized by reduced or absent activity of the arylsulfatase B enzyme due to mutations in the ARSB gene.[GHR gene: ARSB]
What does 94210-2 measure?
This code measures ARSB 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.