94080-9
LaboratoryRRM2B gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal
Definition
Detection of mutations in the RRM2B gene for the diagnosis of mitochondrial neurogastrointestinal encephalopathy (MNGIE) and mitochondrial encephalomyopathy.
LOINC 6-Axis Classification
Component
RRM2B gene full mutation analysis
Property
Prid
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Nom
Method Type
Sequencing
Details
Class
MOLPATH.MUT
Order/Observation
Both
Short Name
RRM2B Full Mut Anl Bld/T Seq
Display Name
RRM2B gene full mutation analysis Sequencing Nom (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 94080-9?
LOINC code 94080-9 identifies "RRM2B gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal". Detection of mutations in the RRM2B gene for the diagnosis of mitochondrial neurogastrointestinal encephalopathy (MNGIE) and mitochondrial encephalomyopathy.
What does 94080-9 measure?
This code measures RRM2B gene full 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.