94192-2
LaboratorySLC25A20 gene full mutation analysis in Blood or Tissue by Sequencing
Definition
Full gene sequence analysis is performed to test for the presence of a mutation in the coding regions and intron/exon boundaries of the SLC25A20 gene. Mutations in this gene are responsible for Carnitine-acylcarnitine translocase (CACT) deficiency, a rare autosomal recessive disorder of fatty acid oxidation.[GHR gene: SLC25A20]
LOINC 6-Axis Classification
Component
SLC25A20 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
SLC25A20 Full Mut Anl Bld/T Seq
Display Name
SLC25A20 gene full mutation analysis Sequencing Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 94192-2?
LOINC code 94192-2 identifies "SLC25A20 gene full mutation analysis in Blood or Tissue by Sequencing". Full gene sequence analysis is performed to test for the presence of a mutation in the coding regions and intron/exon boundaries of the SLC25A20 gene. Mutations in this gene are responsible for Carnitine-acylcarnitine translocase (CACT) deficiency, a rare autosomal recessive disorder of fatty acid oxidation.[GHR gene: SLC25A20]
What does 94192-2 measure?
This code measures SLC25A20 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.