69384-6

AGXT gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method

Active

Term Description

This term is used for carrier, diagnostic, or prenatal testing for at-risk relatives of an affected individual who has a previously identified known genetic mutation within the AGXT gene. Mutation analysis only includes testing for the known familial mutation(s).

Part Descriptions

LP136154-4   AGXT gene
The AGXT (alanine-glyoxylate aminotransferase) gene provides instructions for making a liver-specific peroxisomal enzyme, alanine-glyoxylate aminotransferase (AGT). Mutations in the AGXT gene lead to deficient AGT enzyme activity and ultimately primary hyperoxaluira type 1 (PH1), an autosomal recessive disorder in which excessive oxalates are formed by the liver and excreted by the kidneys. Clinical symptoms included increased urinary oxalate, glycolate, and glycerate excreation, which lead to a wide spectrum of diseases ranging from renal failure in infancy to renal stones in late adulthood. Source: Regenstrief LOINC

LP136154-4   AGXT gene
The AGXT gene (alanine-glyoxylate aminotransferase) [HGNC Gene ID:341] is located on chromosome 2q37.3. This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008] [NCBI Gene ID:189] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name

AGXT gene mutation analysis limited to known familial mutations:Find:Pt:Bld/Tiss:Doc:Molgen

Long Common Name

AGXT gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method

Short Name

AGXT gene Fam Mut Anl Bld/T

Display Name

AGXT gene familial mut analysis Molgen Doc (Bld/Tiss)

Consumer Name Alpha Get Info

AGXT gene familial variant analysis, Blood or tissue specimen

Part Model Get Info

• Component

  AGXT gene mutation analysis limited to known familial mutations
  LP227562-8

  • Analyte

    AGXT gene mutation analysis limited to known familial mutations
    LP227562-8

    • Component Numerator

      AGXT gene mutation analysis limited to known familial mutations
      LP227562-8

      • Component Numerator Core

        AGXT gene
        LP136154-4

      • Component Numerator Core Suffix

        mutation analysis limited to known familial mutations
        LP135775-7

    • Component Denominator

      NULL
       

      • Component Denominator Core

        NULL
         

      • Component Denominator Core Suffix

        NULL
         

  • Challenge

    NULL
     

  • Adjustment

    NULL
     

  • Count

    NULL
     

• Property

  Find
  LP6813-2

• Time

  Pt
  LP6960-1

  • Time Core

    Pt
    LP6960-1

  • Time Modifier

    NULL
     

• System

  Bld/Tiss
  LP7061-7

  • System Core

    Bld/Tiss
    LP7061-7

  • Super System

    NULL
     

• Scale

  Doc
  LP32888-7

• Method

  Molgen
  LP6404-0

Basic Attributes

Class

MOLPATH.MUT

Type

Laboratory

First Released

Version 2.40

Last Updated

Version 2.66 (MAJ)

Change Reason

Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.

Order vs. Observation

Both

Language Variants Get Info

Related Names

• 2q37.3
• AGT
• AGT1
• AGXT1
• alanine-glyoxylate aminotransferase
• Blood
• Document
• Fam Mut Anl
• Finding
• Findings
• Genetics
• Heredity
• Heritable
• Inherited
• L-alanine: glyoxylate aminotransferase 1
• LMTED
• LTD
• Molecular genetics
• Molecular pathology
• MOLPATH
• MOLPATH.MUTATIONS
• Mut
• Mutation
• Mutations
• Muts
• oxalosis I
• PCR
• PH1
• Point in time
• primary hyperoxaluria type 1
• Random
• serine:pyruvate aminotransferase
• SPAT
• SPT
• Tissue
• Tissue, unspecified
• TLH6
• WB
• Whole blood
• Whole blood or Tissue

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CodeSystem lookup

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=69384-6

LOINC Copyright

Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.