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Clinical Genomics Work GroupMaturity Level: N/AStandards Status: Informative

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Definition for Code SystemGenomicStudyMethodType

<?xml version="1.0" encoding="UTF-8"?>

<CodeSystem xmlns="http://hl7.org/fhir">
  <id value="genomicstudy-methodtype"/> 
  <meta> 
    <lastUpdated value="2024-06-17T13:39:48-05:00"/> 
    <profile value="http://hl7.org/fhir/StructureDefinition/shareablecodesystem"/> 
  </meta> 
  <text> 
    <status value="generated"/> 
    <div xmlns="http://www.w3.org/1999/xhtml">
      <p> This case-sensitive code system 
        <code> http://hl7.org/fhir/genomicstudy-methodtype</code>  defines the following codes:
      </p> 
      <table class="codes">
        <tr> 
          <td style="white-space:nowrap">
            <b> Code</b> 
          </td> 
          <td> 
            <b> Display</b> 
          </td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">biochemical-genetics
            <a name="genomicstudy-methodtype-biochemical-genetics"> </a> 
          </td> 
          <td> Biochemical Genetics</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">cytogenetics
            <a name="genomicstudy-methodtype-cytogenetics"> </a> 
          </td> 
          <td> Cytogenetics</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">molecular-genetics
            <a name="genomicstudy-methodtype-molecular-genetics"> </a> 
          </td> 
          <td> Molecular Genetics</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">analyte
            <a name="genomicstudy-methodtype-analyte"> </a> 
          </td> 
          <td> Analyte</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">chromosome-breakage-studies
            <a name="genomicstudy-methodtype-chromosome-breakage-studies"> </a> 
          </td> 
          <td> Chromosome breakage studies</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">deletion-duplication-analysis
            <a name="genomicstudy-methodtype-deletion-duplication-analysis"> </a> 
          </td> 
          <td> Deletion/duplication analysis</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">detection-of-homozygosity
            <a name="genomicstudy-methodtype-detection-of-homozygosity"> </a> 
          </td> 
          <td> Detection of homozygosity</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">enzyme-assay
            <a name="genomicstudy-methodtype-enzyme-assay"> </a> 
          </td> 
          <td> Enzyme assay</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">fish-interphase
            <a name="genomicstudy-methodtype-fish-interphase"> </a> 
          </td> 
          <td> FISH-interphase</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">fish-metaphase
            <a name="genomicstudy-methodtype-fish-metaphase"> </a> 
          </td> 
          <td> FISH-metaphase</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">flow-cytometry
            <a name="genomicstudy-methodtype-flow-cytometry"> </a> 
          </td> 
          <td> Flow cytometry</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">fish
            <a name="genomicstudy-methodtype-fish"> </a> 
          </td> 
          <td> Fluorescence in situ hybridization (FISH)</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">immunohistochemistry
            <a name="genomicstudy-methodtype-immunohistochemistry"> </a> 
          </td> 
          <td> Immunohistochemistry</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">karyotyping
            <a name="genomicstudy-methodtype-karyotyping"> </a> 
          </td> 
          <td> Karyotyping</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">linkage-analysis
            <a name="genomicstudy-methodtype-linkage-analysis"> </a> 
          </td> 
          <td> Linkage analysis</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">methylation-analysis
            <a name="genomicstudy-methodtype-methylation-analysis"> </a> 
          </td> 
          <td> Methylation analysis</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">msi
            <a name="genomicstudy-methodtype-msi"> </a> 
          </td> 
          <td> Microsatellite instability testing (MSI)</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">m-fish
            <a name="genomicstudy-methodtype-m-fish"> </a> 
          </td> 
          <td> Multicolor FISH (M-FISH)</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">mutation-scanning-of-select-exons
            <a name="genomicstudy-methodtype-mutation-scanning-of-select-exons"> </a> 
          </td> 
          <td> Mutation scanning of select exons</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">mutation-scanning-of-the-entire-coding-region
            <a name="genomicstudy-methodtype-mutation-scanning-of-the-entire-coding-region"> </a> 
          </td> 
          <td> Mutation scanning of the entire coding region</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">protein-analysis
            <a name="genomicstudy-methodtype-protein-analysis"> </a> 
          </td> 
          <td> Protein analysis</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">protein-expression
            <a name="genomicstudy-methodtype-protein-expression"> </a> 
          </td> 
          <td> Protein expression</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">rna-analysis
            <a name="genomicstudy-methodtype-rna-analysis"> </a> 
          </td> 
          <td> RNA analysis</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">sequence-analysis-of-select-exons
            <a name="genomicstudy-methodtype-sequence-analysis-of-select-exons"> </a> 
          </td> 
          <td> Sequence analysis of select exons</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">sequence-analysis-of-the-entire-coding-region
            <a name="genomicstudy-methodtype-sequence-analysis-of-the-entire-coding-region"> </a> 
          </td> 
          <td> Sequence analysis of the entire coding region</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">sister-chromatid-exchange
            <a name="genomicstudy-methodtype-sister-chromatid-exchange"> </a> 
          </td> 
          <td> Sister chromatid exchange</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">targeted-variant-analysis
            <a name="genomicstudy-methodtype-targeted-variant-analysis"> </a> 
          </td> 
          <td> Targeted variant analysis</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">udp
            <a name="genomicstudy-methodtype-udp"> </a> 
          </td> 
          <td> Uniparental disomy study (UPD)</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">aspe
            <a name="genomicstudy-methodtype-aspe"> </a> 
          </td> 
          <td> Allele-specific primer extension (ASPE)</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">alternative-splicing-detection
            <a name="genomicstudy-methodtype-alternative-splicing-detection"> </a> 
          </td> 
          <td> Alternative splicing detection</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">bi-directional-sanger-sequence-analysis
            <a name="genomicstudy-methodtype-bi-directional-sanger-sequence-analysis"> </a> 
          </td> 
          <td> Bi-directional Sanger Sequence Analysis</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">c-banding
            <a name="genomicstudy-methodtype-c-banding"> </a> 
          </td> 
          <td> C-banding</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">cia
            <a name="genomicstudy-methodtype-cia"> </a> 
          </td> 
          <td> Chemiluminescent Immunoassay (CIA)</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">chromatin-immunoprecipitation-on-chip
            <a name="genomicstudy-methodtype-chromatin-immunoprecipitation-on-chip"> </a> 
          </td> 
          <td> Chromatin Immunoprecipitation on ChIP</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">comparative-genomic-hybridization
            <a name="genomicstudy-methodtype-comparative-genomic-hybridization"> </a> 
          </td> 
          <td> Comparative Genomic Hybridization</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">damid
            <a name="genomicstudy-methodtype-damid"> </a> 
          </td> 
          <td> DamID</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">digital-virtual-karyotyping
            <a name="genomicstudy-methodtype-digital-virtual-karyotyping"> </a> 
          </td> 
          <td> Digital / Virtual karyotyping</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">digital-microfluidic-microspheres
            <a name="genomicstudy-methodtype-digital-microfluidic-microspheres"> </a> 
          </td> 
          <td> Digital microfluidic microspheres</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">enzymatic-levels
            <a name="genomicstudy-methodtype-enzymatic-levels"> </a> 
          </td> 
          <td> Enzymatic levels</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">enzyme-activity
            <a name="genomicstudy-methodtype-enzyme-activity"> </a> 
          </td> 
          <td> Enzyme activity</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">elisa
            <a name="genomicstudy-methodtype-elisa"> </a> 
          </td> 
          <td> Enzyme-Linked Immunosorbent Assays (ELISA)</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">fluorometry
            <a name="genomicstudy-methodtype-fluorometry"> </a> 
          </td> 
          <td> Fluorometry</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">fusion-genes-microarrays
            <a name="genomicstudy-methodtype-fusion-genes-microarrays"> </a> 
          </td> 
          <td> Fusion genes microarrays</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">g-banding
            <a name="genomicstudy-methodtype-g-banding"> </a> 
          </td> 
          <td> G-banding</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">gc-ms
            <a name="genomicstudy-methodtype-gc-ms"> </a> 
          </td> 
          <td> Gas chromatography–mass spectrometry (GC-MS)</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">gene-expression-profiling
            <a name="genomicstudy-methodtype-gene-expression-profiling"> </a> 
          </td> 
          <td> Gene expression profiling</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">gene-id
            <a name="genomicstudy-methodtype-gene-id"> </a> 
          </td> 
          <td> GeneID</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">gold-nanoparticle-probe-technology
            <a name="genomicstudy-methodtype-gold-nanoparticle-probe-technology"> </a> 
          </td> 
          <td> Gold nanoparticle probe technology</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">hplc
            <a name="genomicstudy-methodtype-hplc"> </a> 
          </td> 
          <td> High-performance liquid chromatography (HPLC)</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">lc-ms
            <a name="genomicstudy-methodtype-lc-ms"> </a> 
          </td> 
          <td> Liquid chromatography mass spectrometry (LC-MS)</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">lc-ms-ms
            <a name="genomicstudy-methodtype-lc-ms-ms"> </a> 
          </td> 
          <td> Liquid chromatography-tandem mass spectrometry (LC-MS/MS)</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">metabolite-levels
            <a name="genomicstudy-methodtype-metabolite-levels"> </a> 
          </td> 
          <td> Metabolite levels</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">methylation-specific-pcr
            <a name="genomicstudy-methodtype-methylation-specific-pcr"> </a> 
          </td> 
          <td> Methylation-specific PCR</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">microarray
            <a name="genomicstudy-methodtype-microarray"> </a> 
          </td> 
          <td> Microarray</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">mlpa
            <a name="genomicstudy-methodtype-mlpa"> </a> 
          </td> 
          <td> Multiplex Ligation-dependent Probe Amplification (MLPA)</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">ngs-mps
            <a name="genomicstudy-methodtype-ngs-mps"> </a> 
          </td> 
          <td> Next-Generation (NGS)/Massively parallel sequencing (MPS)</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">ola
            <a name="genomicstudy-methodtype-ola"> </a> 
          </td> 
          <td> Oligonucleotide Ligation Assay (OLA)</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">oligonucleotide-hybridization-based-dna-sequencing
            <a name="genomicstudy-methodtype-oligonucleotide-hybridization-based-dna-sequencing"> </a> 
          </td> 
          <td> Oligonucleotide hybridization-based DNA sequencing</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">other
            <a name="genomicstudy-methodtype-other"> </a> 
          </td> 
          <td> Other</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">pcr
            <a name="genomicstudy-methodtype-pcr"> </a> 
          </td> 
          <td> PCR</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">pcr-with-allele-specific-hybridization
            <a name="genomicstudy-methodtype-pcr-with-allele-specific-hybridization"> </a> 
          </td> 
          <td> PCR with allele specific hybridization</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">pcr-rflp-with-southern-hybridization
            <a name="genomicstudy-methodtype-pcr-rflp-with-southern-hybridization"> </a> 
          </td> 
          <td> PCR-RFLP with Southern hybridization</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">protein-truncation-test
            <a name="genomicstudy-methodtype-protein-truncation-test"> </a> 
          </td> 
          <td> Protein truncation test</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">pyrosequencing
            <a name="genomicstudy-methodtype-pyrosequencing"> </a> 
          </td> 
          <td> Pyrosequencing</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">q-banding
            <a name="genomicstudy-methodtype-q-banding"> </a> 
          </td> 
          <td> Q-banding</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">qpcr
            <a name="genomicstudy-methodtype-qpcr"> </a> 
          </td> 
          <td> Quantitative PCR (qPCR)</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">r-banding
            <a name="genomicstudy-methodtype-r-banding"> </a> 
          </td> 
          <td> R-banding</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">rflp
            <a name="genomicstudy-methodtype-rflp"> </a> 
          </td> 
          <td> RFLP</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">rt-lamp
            <a name="genomicstudy-methodtype-rt-lamp"> </a> 
          </td> 
          <td> RT-LAMP</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">rt-pcr
            <a name="genomicstudy-methodtype-rt-pcr"> </a> 
          </td> 
          <td> RT-PCR</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">rt-pcr-with-gel-analysis
            <a name="genomicstudy-methodtype-rt-pcr-with-gel-analysis"> </a> 
          </td> 
          <td> RT-PCR with gel analysis</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">rt-qpcr
            <a name="genomicstudy-methodtype-rt-qpcr"> </a> 
          </td> 
          <td> RT-qPCR</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">snp-detection
            <a name="genomicstudy-methodtype-snp-detection"> </a> 
          </td> 
          <td> SNP Detection</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">silver-staining
            <a name="genomicstudy-methodtype-silver-staining"> </a> 
          </td> 
          <td> Silver staining</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">sky
            <a name="genomicstudy-methodtype-sky"> </a> 
          </td> 
          <td> Spectral karyotyping (SKY)</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">t-banding
            <a name="genomicstudy-methodtype-t-banding"> </a> 
          </td> 
          <td> T-banding</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">ms-ms
            <a name="genomicstudy-methodtype-ms-ms"> </a> 
          </td> 
          <td> Tandem mass spectrometry (MS/MS)</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">tetra-nucleotide-repeat-by-pcr-or-southern-blot
            <a name="genomicstudy-methodtype-tetra-nucleotide-repeat-by-pcr-or-southern-blot"> </a> 
          </td> 
          <td> Tetra-nucleotide repeat by PCR or Southern Blot</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">tiling-arrays
            <a name="genomicstudy-methodtype-tiling-arrays"> </a> 
          </td> 
          <td> Tiling Arrays</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">trinucleotide-repeat-by-pcr-or-southern-blot
            <a name="genomicstudy-methodtype-trinucleotide-repeat-by-pcr-or-southern-blot"> </a> 
          </td> 
          <td> Trinucleotide repeat by PCR or Southern Blot</td> 
        </tr> 
        <tr> 
          <td style="white-space:nowrap">uni-directional-sanger-sequencing
            <a name="genomicstudy-methodtype-uni-directional-sanger-sequencing"> </a> 
          </td> 
          <td> Uni-directional Sanger sequencing</td> 
        </tr> 
      </table> 
    </div> 
  </text> 
  <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-wg">
    <valueCode value="cg"/> 
  </extension> 
  <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status">
    <valueCode value="trial-use"/> 
  </extension> 
  <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm">
    <valueInteger value="1"/> 
  </extension> 
  <url value="http://hl7.org/fhir/genomicstudy-methodtype"/> 
  <identifier> 
    <system value="urn:ietf:rfc:3986"/> 
    <value value="urn:oid:2.16.840.1.113883.4.642.4.1979"/> 
  </identifier> 
  <version value="6.0.0-cibuild"/> 
  <name value="GenomicStudyMethodType"/> 
  <title value="Genomic Study Method Type"/> 
  <status value="active"/> 
  <experimental value="true"/> 
  <date value="2022-08-16T16:49:24-05:00"/> 
  <publisher value="HL7 (FHIR Project)"/> 
  <contact> 
    <telecom> 
      <system value="url"/> 
      <value value="http://hl7.org/fhir"/> 
    </telecom> 
    <telecom> 
      <system value="email"/> 
      <value value="fhir@lists.hl7.org"/> 
    </telecom> 
  </contact> 
  <description value="The method type of the GenomicStudy analysis. These method types and relevant codes
   were pulled from [National Library of Medicine-Genetic Testing Registry](https://www.ncbi.nlm
  .nih.gov/gtr/) (NCBI-GTR) values of describing different testing methods on various
   levels: [major method category](https://ftp.ncbi.nlm.nih.gov/pub/GTR/standard_terms/Major_met
  hod_category.txt), [method category](https://ftp.ncbi.nlm.nih.gov/pub/GTR/standard_terms/Metho
  d_category.txt), and [primary methodology](https://ftp.ncbi.nlm.nih.gov/pub/GTR/standard_terms
  /Primary_test_methodology.txt)"/> 
  <jurisdiction> 
    <coding> 
      <system value="http://unstats.un.org/unsd/methods/m49/m49.htm"/> 
      <code value="001"/> 
      <display value="World"/> 
    </coding> 
  </jurisdiction> 
  <caseSensitive value="true"/> 
  <valueSet value="http://hl7.org/fhir/ValueSet/genomicstudy-methodtype"/> 
  <content value="complete"/> 
  <concept> 
    <code value="biochemical-genetics"/> 
    <display value="Biochemical Genetics"/> 
  </concept> 
  <concept> 
    <code value="cytogenetics"/> 
    <display value="Cytogenetics"/> 
  </concept> 
  <concept> 
    <code value="molecular-genetics"/> 
    <display value="Molecular Genetics"/> 
  </concept> 
  <concept> 
    <code value="analyte"/> 
    <display value="Analyte"/> 
  </concept> 
  <concept> 
    <code value="chromosome-breakage-studies"/> 
    <display value="Chromosome breakage studies"/> 
  </concept> 
  <concept> 
    <code value="deletion-duplication-analysis"/> 
    <display value="Deletion/duplication analysis"/> 
  </concept> 
  <concept> 
    <code value="detection-of-homozygosity"/> 
    <display value="Detection of homozygosity"/> 
  </concept> 
  <concept> 
    <code value="enzyme-assay"/> 
    <display value="Enzyme assay"/> 
  </concept> 
  <concept> 
    <code value="fish-interphase"/> 
    <display value="FISH-interphase"/> 
  </concept> 
  <concept> 
    <code value="fish-metaphase"/> 
    <display value="FISH-metaphase"/> 
  </concept> 
  <concept> 
    <code value="flow-cytometry"/> 
    <display value="Flow cytometry"/> 
  </concept> 
  <concept> 
    <code value="fish"/> 
    <display value="Fluorescence in situ hybridization (FISH)"/> 
  </concept> 
  <concept> 
    <code value="immunohistochemistry"/> 
    <display value="Immunohistochemistry"/> 
  </concept> 
  <concept> 
    <code value="karyotyping"/> 
    <display value="Karyotyping"/> 
  </concept> 
  <concept> 
    <code value="linkage-analysis"/> 
    <display value="Linkage analysis"/> 
  </concept> 
  <concept> 
    <code value="methylation-analysis"/> 
    <display value="Methylation analysis"/> 
  </concept> 
  <concept> 
    <code value="msi"/> 
    <display value="Microsatellite instability testing (MSI)"/> 
  </concept> 
  <concept> 
    <code value="m-fish"/> 
    <display value="Multicolor FISH (M-FISH)"/> 
  </concept> 
  <concept> 
    <code value="mutation-scanning-of-select-exons"/> 
    <display value="Mutation scanning of select exons"/> 
  </concept> 
  <concept> 
    <code value="mutation-scanning-of-the-entire-coding-region"/> 
    <display value="Mutation scanning of the entire coding region"/> 
  </concept> 
  <concept> 
    <code value="protein-analysis"/> 
    <display value="Protein analysis"/> 
  </concept> 
  <concept> 
    <code value="protein-expression"/> 
    <display value="Protein expression"/> 
  </concept> 
  <concept> 
    <code value="rna-analysis"/> 
    <display value="RNA analysis"/> 
  </concept> 
  <concept> 
    <code value="sequence-analysis-of-select-exons"/> 
    <display value="Sequence analysis of select exons"/> 
  </concept> 
  <concept> 
    <code value="sequence-analysis-of-the-entire-coding-region"/> 
    <display value="Sequence analysis of the entire coding region"/> 
  </concept> 
  <concept> 
    <code value="sister-chromatid-exchange"/> 
    <display value="Sister chromatid exchange"/> 
  </concept> 
  <concept> 
    <code value="targeted-variant-analysis"/> 
    <display value="Targeted variant analysis"/> 
  </concept> 
  <concept> 
    <code value="udp"/> 
    <display value="Uniparental disomy study (UPD)"/> 
  </concept> 
  <concept> 
    <code value="aspe"/> 
    <display value="Allele-specific primer extension (ASPE)"/> 
  </concept> 
  <concept> 
    <code value="alternative-splicing-detection"/> 
    <display value="Alternative splicing detection"/> 
  </concept> 
  <concept> 
    <code value="bi-directional-sanger-sequence-analysis"/> 
    <display value="Bi-directional Sanger Sequence Analysis"/> 
  </concept> 
  <concept> 
    <code value="c-banding"/> 
    <display value="C-banding"/> 
  </concept> 
  <concept> 
    <code value="cia"/> 
    <display value="Chemiluminescent Immunoassay (CIA)"/> 
  </concept> 
  <concept> 
    <code value="chromatin-immunoprecipitation-on-chip"/> 
    <display value="Chromatin Immunoprecipitation on ChIP"/> 
  </concept> 
  <concept> 
    <code value="comparative-genomic-hybridization"/> 
    <display value="Comparative Genomic Hybridization"/> 
  </concept> 
  <concept> 
    <code value="damid"/> 
    <display value="DamID"/> 
  </concept> 
  <concept> 
    <code value="digital-virtual-karyotyping"/> 
    <display value="Digital / Virtual karyotyping"/> 
  </concept> 
  <concept> 
    <code value="digital-microfluidic-microspheres"/> 
    <display value="Digital microfluidic microspheres"/> 
  </concept> 
  <concept> 
    <code value="enzymatic-levels"/> 
    <display value="Enzymatic levels"/> 
  </concept> 
  <concept> 
    <code value="enzyme-activity"/> 
    <display value="Enzyme activity"/> 
  </concept> 
  <concept> 
    <code value="elisa"/> 
    <display value="Enzyme-Linked Immunosorbent Assays (ELISA)"/> 
  </concept> 
  <concept> 
    <code value="fluorometry"/> 
    <display value="Fluorometry"/> 
  </concept> 
  <concept> 
    <code value="fusion-genes-microarrays"/> 
    <display value="Fusion genes microarrays"/> 
  </concept> 
  <concept> 
    <code value="g-banding"/> 
    <display value="G-banding"/> 
  </concept> 
  <concept> 
    <code value="gc-ms"/> 
    <display value="Gas chromatography–mass spectrometry (GC-MS)"/> 
  </concept> 
  <concept> 
    <code value="gene-expression-profiling"/> 
    <display value="Gene expression profiling"/> 
  </concept> 
  <concept> 
    <code value="gene-id"/> 
    <display value="GeneID"/> 
  </concept> 
  <concept> 
    <code value="gold-nanoparticle-probe-technology"/> 
    <display value="Gold nanoparticle probe technology"/> 
  </concept> 
  <concept> 
    <code value="hplc"/> 
    <display value="High-performance liquid chromatography (HPLC)"/> 
  </concept> 
  <concept> 
    <code value="lc-ms"/> 
    <display value="Liquid chromatography mass spectrometry (LC-MS)"/> 
  </concept> 
  <concept> 
    <code value="lc-ms-ms"/> 
    <display value="Liquid chromatography-tandem mass spectrometry (LC-MS/MS)"/> 
  </concept> 
  <concept> 
    <code value="metabolite-levels"/> 
    <display value="Metabolite levels"/> 
  </concept> 
  <concept> 
    <code value="methylation-specific-pcr"/> 
    <display value="Methylation-specific PCR"/> 
  </concept> 
  <concept> 
    <code value="microarray"/> 
    <display value="Microarray"/> 
  </concept> 
  <concept> 
    <code value="mlpa"/> 
    <display value="Multiplex Ligation-dependent Probe Amplification (MLPA)"/> 
  </concept> 
  <concept> 
    <code value="ngs-mps"/> 
    <display value="Next-Generation (NGS)/Massively parallel sequencing (MPS)"/> 
  </concept> 
  <concept> 
    <code value="ola"/> 
    <display value="Oligonucleotide Ligation Assay (OLA)"/> 
  </concept> 
  <concept> 
    <code value="oligonucleotide-hybridization-based-dna-sequencing"/> 
    <display value="Oligonucleotide hybridization-based DNA sequencing"/> 
  </concept> 
  <concept> 
    <code value="other"/> 
    <display value="Other"/> 
  </concept> 
  <concept> 
    <code value="pcr"/> 
    <display value="PCR"/> 
  </concept> 
  <concept> 
    <code value="pcr-with-allele-specific-hybridization"/> 
    <display value="PCR with allele specific hybridization"/> 
  </concept> 
  <concept> 
    <code value="pcr-rflp-with-southern-hybridization"/> 
    <display value="PCR-RFLP with Southern hybridization"/> 
  </concept> 
  <concept> 
    <code value="protein-truncation-test"/> 
    <display value="Protein truncation test"/> 
  </concept> 
  <concept> 
    <code value="pyrosequencing"/> 
    <display value="Pyrosequencing"/> 
  </concept> 
  <concept> 
    <code value="q-banding"/> 
    <display value="Q-banding"/> 
  </concept> 
  <concept> 
    <code value="qpcr"/> 
    <display value="Quantitative PCR (qPCR)"/> 
  </concept> 
  <concept> 
    <code value="r-banding"/> 
    <display value="R-banding"/> 
  </concept> 
  <concept> 
    <code value="rflp"/> 
    <display value="RFLP"/> 
  </concept> 
  <concept> 
    <code value="rt-lamp"/> 
    <display value="RT-LAMP"/> 
  </concept> 
  <concept> 
    <code value="rt-pcr"/> 
    <display value="RT-PCR"/> 
  </concept> 
  <concept> 
    <code value="rt-pcr-with-gel-analysis"/> 
    <display value="RT-PCR with gel analysis"/> 
  </concept> 
  <concept> 
    <code value="rt-qpcr"/> 
    <display value="RT-qPCR"/> 
  </concept> 
  <concept> 
    <code value="snp-detection"/> 
    <display value="SNP Detection"/> 
  </concept> 
  <concept> 
    <code value="silver-staining"/> 
    <display value="Silver staining"/> 
  </concept> 
  <concept> 
    <code value="sky"/> 
    <display value="Spectral karyotyping (SKY)"/> 
  </concept> 
  <concept> 
    <code value="t-banding"/> 
    <display value="T-banding"/> 
  </concept> 
  <concept> 
    <code value="ms-ms"/> 
    <display value="Tandem mass spectrometry (MS/MS)"/> 
  </concept> 
  <concept> 
    <code value="tetra-nucleotide-repeat-by-pcr-or-southern-blot"/> 
    <display value="Tetra-nucleotide repeat by PCR or Southern Blot"/> 
  </concept> 
  <concept> 
    <code value="tiling-arrays"/> 
    <display value="Tiling Arrays"/> 
  </concept> 
  <concept> 
    <code value="trinucleotide-repeat-by-pcr-or-southern-blot"/> 
    <display value="Trinucleotide repeat by PCR or Southern Blot"/> 
  </concept> 
  <concept> 
    <code value="uni-directional-sanger-sequencing"/> 
    <display value="Uni-directional Sanger sequencing"/> 
  </concept> 
</CodeSystem> 

Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.