94231-8
LaboratoryG6PD gene full mutation analysis in Blood or Tissue by Sequencing
Definition
Full gene sequence analysis of all exons and intron/exon boundaries of the G6PD gene is performed to detect a pathogenic mutation associated with Glucose-6-phosphate dehydrogenase (G6PD) deficiency, a common X-linked condition. Test results may include a comprehensive interpretation on congenital information and pharmacogenomic implications for prescribing medication associated with hemolysis in individuals with G6PD deficiency.
LOINC 6-Axis Classification
Component
G6PD 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
G6PD gene Full Mut Anl Bld/T Seq
Display Name
G6PD gene full mutation analysis Sequencing Doc (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 94231-8?
LOINC code 94231-8 identifies "G6PD gene full mutation analysis in Blood or Tissue by Sequencing". Full gene sequence analysis of all exons and intron/exon boundaries of the G6PD gene is performed to detect a pathogenic mutation associated with Glucose-6-phosphate dehydrogenase (G6PD) deficiency, a common X-linked condition. Test results may include a comprehensive interpretation on congenital information and pharmacogenomic implications for prescribing medication associated with hemolysis in individuals with G6PD deficiency.
What does 94231-8 measure?
This code measures G6PD 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.