94231-8LOINC 2.82
G6PD gene full mutation analysis in Blood or Tissue by Sequencing
G6PD gene Full Mut Anl Bld/T Seq
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.
Component
- G6PD gene full mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH
Property
- Find
Scale
- Doc
Method
- Sequencing
Related names
- Blood; Document; Finding; Findings; full gene sequencing; Full Mut Anl; G6PD1; Genetics; glucose-6-phosphate dehydrogenase; Glucose-6-phosphate dehydrogenase gene; Glycogen storage disease; Gpd-1; Heredity; Heritable; high-throughput sequencing; HTS; Inherited; Molecular pathology; MOLPATH; Mut; Mutations; Next generation sequencing; NGS; Point in time; Random; sequencing of entire coding region; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
Index terms
- Blood
- Document
- Finding
- Findings
- full gene sequencing
- Full Mut Anl
- G6PD1
- Genetics
- glucose-6-phosphate dehydrogenase
- Glucose-6-phosphate dehydrogenase gene
- Glycogen storage disease
- Gpd-1
- Heredity
- Heritable
- high-throughput sequencing
- HTS
- Inherited
- Molecular pathology
- MOLPATH
- Mut
- Mutations
- Next generation sequencing
- NGS
- Point in time
- Random
- sequencing of entire coding region
- Tissue
- Tissue, unspecified
- WB
- Whole blood
- Whole blood or Tissue