71358-6
LaboratoryGJB3 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Definition
Multiple variants or mutations within the gap junction protein, beta 3 (GJB3) gene are associated with Sensorineural Hearing Loss (SNHL). This term was created for, but not limited to, Asper Biotech's Sensorineural Hearing Loss (SNHL) microarray test. This test is a targeted mutation analysis for the following variants with the GJB3 gene: c.421A>G (rs74315320), c.421_423delATT, c.538C>T (rs74315319), c.547G>A (rs74315318), and c.667C>A.
LOINC 6-Axis Classification
Component
GJB3 gene targeted mutation analysis
Property
Find
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Doc
Method Type
Molgen
Details
Class
MOLPATH.MUT
Order/Observation
Both
Short Name
GJB3 gene Mut Anl Bld/T
Display Name
GJB3 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 71358-6?
LOINC code 71358-6 identifies "GJB3 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method". Multiple variants or mutations within the gap junction protein, beta 3 (GJB3) gene are associated with Sensorineural Hearing Loss (SNHL). This term was created for, but not limited to, Asper Biotech's Sensorineural Hearing Loss (SNHL) microarray test. This test is a targeted mutation analysis for the following variants with the GJB3 gene: c.421A>G (rs74315320), c.421_423delATT, c.538C>T (rs74315319), c.547G>A (rs74315318), and c.667C>A.
What does 71358-6 measure?
This code measures GJB3 gene targeted mutation analysis in Bld/Tiss. It belongs to the MOLPATH.MUT 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.