94186-4
LaboratoryOrigin of germline genetic variant [Type]
Definition
The source or inheritance of a specific germline variation found in an individual patient. Understanding the source can help determine the significance of a particular variant and its association with different diseases or syndromes. Germline variants are either inherited or de novo. Inherited variants can be maternal, paternal, or a combination of maternal and paternal. De novo variants are those that are not present in parental germline cells, but that arise in the egg or sperm prior to conception or just after the zygote is formed. [PMID: 27894357]
LOINC 6-Axis Classification
Component
Origin of germline genetic variant
Property
Type
Time Aspect
Pt
System
^Patient
Scale Type
Nom
Method Type
N/A
Details
Class
MOLPATH
Order/Observation
Observation
Short Name
Origin germline gen var
Display Name
Origin of germline genetic variant Nom
Related Names
Frequently Asked Questions
What is LOINC code 94186-4?
LOINC code 94186-4 identifies "Origin of germline genetic variant [Type]". The source or inheritance of a specific germline variation found in an individual patient. Understanding the source can help determine the significance of a particular variant and its association with different diseases or syndromes. Germline variants are either inherited or de novo. Inherited variants can be maternal, paternal, or a combination of maternal and paternal. De novo variants are those that are not present in parental germline cells, but that arise in the egg or sperm prior to conception or just after the zygote is formed. [PMID: 27894357]
What does 94186-4 measure?
This code measures Origin of germline genetic variant in ^Patient. 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.