AutoICD API

41053-0

Laboratory

SMN1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal

LOINC 6-Axis Classification

Component

SMN1 gene targeted mutation analysis

Property

Prid

Time Aspect

Pt

System

Bld/Tiss

Scale Type

Nom

Method Type

Molgen

Details

Class

MOLPATH.MUT

Order/Observation

Both

Short Name

SMN1 gene Mut Anl Bld/T

Display Name

SMN1 gene targeted mutation analysis Molgen Nom (Bld/Tiss)

Related Names

BCD541BloodGemin 1GEMIN1GeneticsHeredityHeritableIdentity or presenceInheritedKugelberg-Welander diseaseMolecular geneticsMolecular pathologyMOLPATHMOLPATH.MUTATIONSMutMut AnlMutationsNominalPCRPoint in timeRandomSMASMA geneSMA@SMA1SMA2SMA3SMA4SMNSMNTSMVspinal muscular atrophySurvival motor neuron protein genesurvival of motor neuron 1, telomericT-BCD541TDRD16ATissueTissue, unspecifiedUniversalLabOrdersWBWerdnig-Hoffmann diseaseWhole bloodWhole blood or Tissue

Frequently Asked Questions

What is LOINC code 41053-0?

LOINC code 41053-0 identifies "SMN1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal". It measures SMN1 gene targeted mutation analysis in Bld/Tiss.

What does 41053-0 measure?

This code measures SMN1 gene targeted mutation analysis 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.