AutoICD API

69383-8

Laboratory

AGXT gene targeted mutation analysis in Blood or Tissue by Molecular genetics method

Definition

This test is for identifying mutations within the AGXT gene in individuals with the pyridoxine responsive form of primary hyperoxaluria type 1 (PH1).

LOINC 6-Axis Classification

Component

AGXT gene targeted mutation analysis

Property

Find

Time Aspect

Pt

System

Bld/Tiss

Scale Type

Doc

Method Type

Molgen

Details

Class

MOLPATH.MUT

Order/Observation

Both

Short Name

AGXT gene Mut Anl Bld/T

Display Name

AGXT gene targeted mutation analysis Molgen Doc (Bld/Tiss)

Related Names

2q37.3AGTAGT1AGXT1alanine-glyoxylate aminotransferaseBloodDocumentFindingFindingsGeneticsHeredityHeritableInheritedL-alanine: glyoxylate aminotransferase 1Molecular geneticsMolecular pathologyMOLPATHMOLPATH.MUTATIONSMutMut AnlMutationsoxalosis IPCRPH1Point in timeprimary hyperoxaluria type 1Randomserine:pyruvate aminotransferaseSPATSPTTissueTissue, unspecifiedTLH6WBWhole bloodWhole blood or Tissue

Frequently Asked Questions

What is LOINC code 69383-8?

LOINC code 69383-8 identifies "AGXT gene targeted mutation analysis in Blood or Tissue by Molecular genetics method". This test is for identifying mutations within the AGXT gene in individuals with the pyridoxine responsive form of primary hyperoxaluria type 1 (PH1).

What does 69383-8 measure?

This code measures AGXT 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.