50623-8

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

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Part Descriptions

LP62083-8   AS gene
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are rare genetic disorders in which several genes (e.g. SNRPN, UBE3A) on chromosome 15(q11-13) are deleted or unexpressed. Alterations in the PWS/AS region (15q11-13) may occur by several genetic mechanisms, including chance mutation, uniparental disomy, sporadic mutations, chromosome translocations, and gene deletions. PWS and AS are some of the first reported instances of imprinting disorders in humans. In PWS, the maternally inherited copies of genes are virtually silent due to imprinting. Only the paternal copies of the genes are expressed. Therefore, PWS results from the loss of paternal copies of this region. Alternately, AS is caused by deletion or inactivation of genes on the maternally inherited chromosome 15 while the paternal copy, which may be of normal sequence, is imprinted and therefore silenced.

Characteristic features of PWS include diminished fetal activity, obesity, hypotonia, developmental delay, short stature, hypogonadotropic hypogonadism, strabismus, and small hands and feet. AS is characterized by intellectual and developmental disability, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling, and usually a happy demeanor. 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, Prader-Willi Syndrome (PWS) and Angleman Syndrome (AS), Genomic Imprinting

LP62083-8   AS gene
The AS gene (major histocompatibility complex, class I, B) gene is located on chromosome 6p21.3. HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008] [NCBI Gene ID:3106] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name

AS gene targeted mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen

Long Common Name

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

Short Name

AS gene Mut Anl Bld/T

Display Name

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

Consumer Name Alpha Get Info

AS gene targeted mutation analysis, Blood or tissue specimen

Part Model Get Info

• Component

  AS gene targeted mutation analysis
  LP227688-1

  • Analyte

    AS gene targeted mutation analysis
    LP227688-1

    • Component Numerator

      AS gene targeted mutation analysis
      LP227688-1

      • Component Numerator Core

        AS gene
        LP62083-8

      • Component Numerator Core Suffix

        targeted mutation analysis
        LP32419-1

    • 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 2.22

Last Updated

Version 2.68 (MIN)

Change Reason

Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.; 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

• Angelman syndrome
• Arterial Stenosis
• AS
• Blood
• Document
• Finding
• Findings
• Genetics
• Heredity
• Heritable
• HLAB
• Inherited
• major histocompatibility complex, class I, B
• Molecular genetics
• Molecular pathology
• MOLPATH
• MOLPATH.MUTATIONS
• Mut
• Mut Anl
• Mutations
• PCR
• Point in time
• Random
• SPDA1
• Tissue
• Tissue, unspecified
• WB
• Whole blood
• Whole blood or Tissue

LOINC Terminology Service (API) using HL7^® FHIR^® Get Info

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CodeSystem lookup

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=50623-8

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.