AutoICD API

21668-9

Laboratory

F5 gene p.Arg506Gln [Presence] in Blood or Tissue by Molecular genetics method

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.

LOINC 6-Axis Classification

Component

F5 gene.p.Arg506Gln

Property

PrThr

Time Aspect

Pt

System

Bld/Tiss

Scale Type

Ord

Method Type

Molgen

Details

Class

MOLPATH.MUT

Order/Observation

Both

Short Name

F5 p.R506Q Bld/T Ql

Display Name

F5 gene p.Arg506Gln Molgen Ql (Bld/Tiss)

Related Names

Activated protein C cofactorAPCBloodCoagulation Factor V - Leiden genecoagulation factor V (proaccelerin, labile factor)F5 p.R506QFVLGeneticsHeredityHeritableInheritedLabile factorMolecular geneticsMolecular pathologyMOLPATHMOLPATH.MUTATIONSOrdinalP primePCCFPCRPoint in timePRProaccelerin geneQLQualQualitativeRandomRPRGL1ScreenTHPH2ThrombophiliaTissueTissue, unspecifiedWBWhole bloodWhole blood or Tissue

Frequently Asked Questions

What is LOINC code 21668-9?

LOINC code 21668-9 identifies "F5 gene p.Arg506Gln [Presence] in Blood or Tissue by Molecular genetics method". 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.

What does 21668-9 measure?

This code measures F5 gene.p.Arg506Gln in Bld/Tiss. It belongs to the MOLPATH.MUT 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.