94202-9LOINC 2.82
GRHPR gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
GRHPR 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 (e.g. by multiplex ligation-dependent probe amplification) to evaluate for mutations and large deletions/duplications in the GRHPR gene. Testing is used to confirm a diagnosis of primary hyperoxaluria type 2 (PH2) and for carrier testing for individuals with a family history of PH2 in the absence of known mutations in the family.
Component
- GRHPR 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; GLXR; GLYD; glyoxylate reductase/hydroxypyruvate reductase; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; Mut; Mutations; PCR; PH2; Point in time; Random; 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
- GLXR
- GLYD
- glyoxylate reductase/hydroxypyruvate reductase
- GRHPR gene deletion+duplication & full mutation analysis
- Heredity
- Heritable
- Inherited
- Molecular genetics
- Molecular pathology
- MOLPATH
- Mut
- Mutations
- PCR
- PH2
- Point in time
- Random
- sequencing of entire coding region
- Tissue
- Tissue, unspecified
- WB
- Whole blood
- Whole blood or Tissue