74833-5

ACAT1 gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal

Active

Part Descriptions

LP150045-5   Sequencing
Sequencing is a method used to determine the sequence of individual genes, larger genetic regions (i.e. clusters of genes or operons), full chromosomes or entire genomes. Historically, most sequencing has been performed using the chain termination method developed by Frederick Sanger in 1977. PMID: 271968 Sequencing technologies have improved dramatically, making them cheaper, faster, and more accurate. Next-generation sequencing (NGS), also known as high-throughput sequencing, deep sequencing, and second-generation sequencing, is a type of technology that uses parallel sequencing of multiple small fragments of DNA to determine sequence. This "high-throughput" technology has increased the speed and amount of DNA sequenced at a significantly reduced cost. PMID: 18576944 Several NGS platforms (ie, sequencing instruments and associated reagents) have been developed. Third-generation sequencing is another methodology currently under development that uses parallel sequencing similar to NGS. In contrast to NGS, third-generation sequencing uses single DNA molecules rather than amplified DNA as a template. PMID: 20858600 Source: Regenstrief LOINC

LP183583-6   ACAT1 gene
Acetyl-CoA acetyltransferase 1 (ACAT1) gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. Testing methods such as sequencing and deletion/duplication analysis are peformed to detect variants within the ACAT1 gene and confirm a clinical diagnosis. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, ACAT1 gene

LP183583-6   ACAT1 gene
The ACAT1 gene (acetyl-CoA acetyltransferase 1) [HGNC Gene ID:93] is located on chromosome 11q22.3. This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. [provided by RefSeq, Feb 2009] [NCBI Gene ID:38] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name

ACAT1 gene full mutation analysis:Prid:Pt:Bld/Tiss:Nom:Sequencing

Long Common Name

ACAT1 gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal

Short Name

ACAT1 Full Mut Anl Bld/T Seq

Display Name

ACAT1 gene full mutation analysis Sequencing Nom (Bld/Tiss)

Consumer Name Alpha Get Info

ACAT1 gene variant analysis, Blood or tissue specimen

Part Model Get Info

• Component

  ACAT1 gene full mutation analysis
  LP183584-4

  • Analyte

    ACAT1 gene full mutation analysis
    LP183584-4

    • Component Numerator

      ACAT1 gene full mutation analysis
      LP183584-4

      • Component Numerator Core

        ACAT1 gene
        LP183583-6

      • Component Numerator Core Suffix

        full mutation analysis
        LP150044-8

    • Component Denominator

      NULL
       

      • Component Denominator Core

        NULL
         

      • Component Denominator Core Suffix

        NULL
         

  • Challenge

    NULL
     

  • Adjustment

    NULL
     

  • Count

    NULL
     

• Property

  Prid
  LP6850-4

• 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

  Nom
  LP7750-5

• Method

  Sequencing
  LP150045-5

Basic Attributes

Class

MOLPATH.MUT

Type

Laboratory

First Released

Version 2.48

Last Updated

Version 2.67 (MAJ)

Change Reason

Release 2.67: SYSTEM: Updated System from "Bld/Tiss/Sal" to "Bld/Tiss" since this System in LOINC encompasses all specimens used for germline nucleic acid testing, including blood, tissue and cells contained in swabs as well as fluids such as saliva.

Order vs. Observation

Both

Language Variants Get Info

Related Names

• ACAT
• acetyl-CoA acetyltransferase 1
• Blood
• full gene sequencing
• Full Mut Anl
• Genetics
• Heredity
• Heritable
• high-throughput sequencing
• HTS
• Identity or presence
• Inherited
• MAT
• Molecular pathology
• MOLPATH
• MOLPATH.MUTATIONS
• Mut
• Mutations
• Next generation sequencing
• NGS
• Nominal
• Point in time
• Random
• sequencing of entire coding region
• T2
• THIL
• Tissue
• Tissue, unspecified
• WB
• Whole blood
• Whole blood or Tissue

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CodeSystem lookup

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=74833-5

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.