48004-6
LaboratoryDNA change (c.HGVS)
Definition
Human Genome Variation Society (HGVS) nomenclature for a single DNA marker. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples.
LOINC 6-Axis Classification
Component
DNA change
Property
Find
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Nom
Method Type
Molgen
Details
Class
HL7.GENETICS
Order/Observation
Observation
Short Name
DNA change
Display Name
DNA change Molgen Nom (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 48004-6?
LOINC code 48004-6 identifies "DNA change (c.HGVS)". Human Genome Variation Society (HGVS) nomenclature for a single DNA marker. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples.
What does 48004-6 measure?
This code measures DNA change in Bld/Tiss. It belongs to the HL7.GENETICS 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.