94203-7
LaboratoryGSN 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 all coding regions and intron/exon boundaries of the GSN (gelsolin) gene. Testing is used to confirm a diagnosis of lattice corneal dystrophy, gelsolin type (or lattice corneal dystrophy type II (LCD2)), a systemic amyloidosis with severe manifestations in the skin, cranial nerves and cornea.[GHR gene: GSN]
LOINC 6-Axis Classification
Component
GSN 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
GSN Full Mut Anl Bld/T Seq
Display Name
GSN gene full mutation analysis Sequencing Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 94203-7?
LOINC code 94203-7 identifies "GSN 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 all coding regions and intron/exon boundaries of the GSN (gelsolin) gene. Testing is used to confirm a diagnosis of lattice corneal dystrophy, gelsolin type (or lattice corneal dystrophy type II (LCD2)), a systemic amyloidosis with severe manifestations in the skin, cranial nerves and cornea.[GHR gene: GSN]
What does 94203-7 measure?
This code measures GSN 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.