21668-9LOINC 2.82
F5 gene p.Arg506Gln [Presence] in Blood or Tissue by Molecular genetics method
F5 p.R506Q Bld/T Ql
Definition
- Factor V Leiden R506Q assays allow for the detection and genotyping of a single point mutation (G to A at position 1691, [NCBI dbSNP ID: rs6025]) of the human Factor V (F5) gene which leads to an amino acid change from arginine to glutamine (R506Q) in the F5 protein. Expected results include wild type, heterzygous, or homozygous for the R506Q (or 1691G>A) mutation.
Component
- F5 gene.p.Arg506Gln
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- PrThr
Scale
- Ord
Method
- Molgen
Related names
- Activated protein C cofactor; APC; Blood; Coagulation Factor V - Leiden gene; coagulation factor V (proaccelerin, labile factor); F5 p.R506Q; FVL; Genetics; Heredity; Heritable; Inherited; Labile factor; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Ordinal; P prime; PCCF; PCR; Point in time; PR; Proaccelerin gene; QL; Qual; Qualitative; Random; RPRGL1; Screen; THPH2; Thrombophilia; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
Index terms
- Activated protein C cofactor
- APC
- Blood
- coagulation factor V (proaccelerin, labile factor)
- Coagulation Factor V - Leiden gene
- F5 gene.p.Arg506Gln
- F5 p.R506Q
- FVL
- Genetics
- Heredity
- Heritable
- Inherited
- Labile factor
- Molecular genetics
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Ordinal
- P prime
- PCCF
- PCR
- Point in time
- PR
- Proaccelerin gene
- QL
- Qual
- Qualitative
- Random
- RPRGL1
- Screen
- THPH2
- Thrombophilia
- Tissue
- Tissue, unspecified
- WB
- Whole blood
- Whole blood or Tissue