94190-6
LaboratoryBPGM gene full mutation analysis in Blood or Tissue by Sequencing
Definition
Full gene sequence analysis is performed to test for the presence of a mutation in the coding regions and intron/exon boundaries of the BPGM gene. Mutations in this gene result in a deficiency of 2,3-bisphosphoglycerate (2,3-BPG) and can cause hereditary erythrocytosis.[GHR gene: BPGM]
LOINC 6-Axis Classification
Component
BPGM gene full mutation analysis
Property
Find
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Doc
Method Type
Sequencing
Details
Class
MOLPATH
Order/Observation
Both
Short Name
BPGM Full Mut Anl Bld/T Seq
Display Name
BPGM gene full mutation analysis Sequencing Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 94190-6?
LOINC code 94190-6 identifies "BPGM gene full mutation analysis in Blood or Tissue by Sequencing". Full gene sequence analysis is performed to test for the presence of a mutation in the coding regions and intron/exon boundaries of the BPGM gene. Mutations in this gene result in a deficiency of 2,3-bisphosphoglycerate (2,3-BPG) and can cause hereditary erythrocytosis.[GHR gene: BPGM]
What does 94190-6 measure?
This code measures BPGM gene full mutation analysis in Bld/Tiss. 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.