AutoICD API

40930-0

Laboratory

PYGM gene p.Arg50Ter+Gly205Ser [Presence] in Blood or Tissue by Molecular genetics method

LOINC 6-Axis Classification

Component

PYGM gene.p.Arg50Ter+Gly205Ser

Property

Arb

Time Aspect

Pt

System

Bld/Tiss

Scale Type

Ord

Method Type

Molgen

Details

Class

MOLPATH.MUT

Order/Observation

Both

Short Name

PYGM p.R50X+G205S Bld/T Ql

Display Name

PYGM gene p.Arg50Ter+Gly205Ser Molgen Ql (Bld/Tiss)

Related Names

ArbitraryBloodG204SGeneticsGlycogen phosphorylase, muscle formGlycogen storage disease type VHeredityHeritableInheritedMcArdle syndromeMolecular geneticsMolecular pathologyMOLPATHMOLPATH.MUTATIONSMyophosphorylase geneOrdinalP primePCRphosphorylase, glycogen, musclePoint in timePYGM p.R50X+G205SQlQualQualitativeR49XRandomrs116987552rs119103251ScreenTissueTissue, unspecifiedWBWhole bloodWhole blood or Tissue

Frequently Asked Questions

What is LOINC code 40930-0?

LOINC code 40930-0 identifies "PYGM gene p.Arg50Ter+Gly205Ser [Presence] in Blood or Tissue by Molecular genetics method". It measures PYGM gene.p.Arg50Ter+Gly205Ser in Bld/Tiss.

What does 40930-0 measure?

This code measures PYGM gene.p.Arg50Ter+Gly205Ser 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.