53034-5
LaboratoryAllelic state
Definition
The level of occurrence of a single DNA Marker within a set of chromosomes. Heterozygous indicates the DNA Marker is only present in one of the two genes contained in homologous chromosomes. Homozygous indicates the DNA Marker is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Marker exists in the only single copy of a gene in a non-homologous chromosome (The male X and Y chromosome are non-homologous). Hemiplasmic indicates that the DNA Marker is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Maker is present in all of the copies of mitochondrial DNA.
LOINC 6-Axis Classification
Component
Allelic state
Property
Find
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Nom
Method Type
Molgen
Details
Class
HL7.GENETICS
Order/Observation
Observation
Short Name
Allelic state
Display Name
Allelic state Molgen Nom (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 53034-5?
LOINC code 53034-5 identifies "Allelic state". The level of occurrence of a single DNA Marker within a set of chromosomes. Heterozygous indicates the DNA Marker is only present in one of the two genes contained in homologous chromosomes. Homozygous indicates the DNA Marker is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Marker exists in the only single copy of a gene in a non-homologous chromosome (The male X and Y chromosome are non-homologous). Hemiplasmic indicates that the DNA Marker is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Maker is present in all of the copies of mitochondrial DNA.
What does 53034-5 measure?
This code measures Allelic state 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.