94212-8LOINC 2.82
PKLR gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
PKLR gene Del+Dup + Full Mut Anl Bld/T
Definition
- Test includes full sequence analysis (e.g. by Sanger and/or next-generation sequencing) and deletion/duplication analysis for the detection of variants and large deletions/duplications in the PKLR gene in patients with low levels of erythrocytic PK enzymatic activity. Testing is performed to aid in the diagnosis of pyruvate kinase (PK) deficiency.
Component
- PKLR gene deletion+duplication & full mutation analysis
Specimen / system
- Bld/Tiss
Class
- MOLPATH
Property
- Find
Scale
- Doc
Method
- Molgen
Related names
- Amplification; Blood; Del; Del+Dup; Del+Dup + Full Mut Anl; Deletions; Document; Dp; Finding; Findings; full gene sequencing; Full Mut Anl; Genetics; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; Mut; Mutations; PCR; PK1; PKL; PKR; PKRL; Point in time; Pyruvate kinase 1 gene; Pyruvate kinase isozymes R/L gene; pyruvate kinase, liver and RBC; Pyruvate kinase, liver and RBC gene; Random; Red cell/liver pyruvate kinase gene; RPK; R-type/L-type pyruvate kinase gene; sequencing of entire coding region; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
Index terms
- Amplification
- Blood
- Del
- Del+Dup
- Del+Dup + Full Mut Anl
- Deletions
- Document
- Dp
- Finding
- Findings
- full gene sequencing
- Full Mut Anl
- Genetics
- Heredity
- Heritable
- Inherited
- Molecular genetics
- Molecular pathology
- MOLPATH
- Mut
- Mutations
- PCR
- PK1
- PKL
- PKLR gene deletion+duplication & full mutation analysis
- PKR
- PKRL
- Point in time
- Pyruvate kinase 1 gene
- Pyruvate kinase isozymes R/L gene
- pyruvate kinase, liver and RBC
- Pyruvate kinase, liver and RBC gene
- R-type/L-type pyruvate kinase gene
- Random
- Red cell/liver pyruvate kinase gene
- RPK
- sequencing of entire coding region
- Tissue
- Tissue, unspecified
- WB
2 further terms