Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-cibuild built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

## : Genomic Study Method Type CodeSystem - XML Representation

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    <CodeSystem xmlns="http://hl7.org/fhir">
      <id value="genomic-study-method-type-cs"/>
      <text>
        <status value="generated"/>
        <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: CodeSystem genomic-study-method-type-cs</b></p><a name="genomic-study-method-type-cs"> </a><a name="hcgenomic-study-method-type-cs"> </a><p>This case-sensitive code system <code>http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs</code> defines the following codes:</p><table class="codes"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td><td><b>Definition</b></td></tr><tr><td style="white-space:nowrap">biochemical-genetics<a name="genomic-study-method-type-cs-biochemical-genetics"> </a></td><td>Biochemical Genetics</td><td>Biochemical Genetics</td></tr><tr><td style="white-space:nowrap">cytogenetics<a name="genomic-study-method-type-cs-cytogenetics"> </a></td><td>Cytogenetics</td><td>Cytogenetics</td></tr><tr><td style="white-space:nowrap">molecular-genetics<a name="genomic-study-method-type-cs-molecular-genetics"> </a></td><td>Molecular Genetics</td><td>Molecular Genetics</td></tr><tr><td style="white-space:nowrap">analyte<a name="genomic-study-method-type-cs-analyte"> </a></td><td>Analyte</td><td>Analyte</td></tr><tr><td style="white-space:nowrap">chromosome-breakage-studies<a name="genomic-study-method-type-cs-chromosome-breakage-studies"> </a></td><td>Chromosome breakage studies</td><td>Chromosome breakage studies</td></tr><tr><td style="white-space:nowrap">deletion-duplication-analysis<a name="genomic-study-method-type-cs-deletion-duplication-analysis"> </a></td><td>Deletion/duplication analysis</td><td>Deletion/duplication analysis</td></tr><tr><td style="white-space:nowrap">detection-of-homozygosity<a name="genomic-study-method-type-cs-detection-of-homozygosity"> </a></td><td>Detection of homozygosity</td><td>Detection of homozygosity</td></tr><tr><td style="white-space:nowrap">enzyme-assay<a name="genomic-study-method-type-cs-enzyme-assay"> </a></td><td>Enzyme assay</td><td>Enzyme assay</td></tr><tr><td style="white-space:nowrap">fish-interphase<a name="genomic-study-method-type-cs-fish-interphase"> </a></td><td>FISH-interphase</td><td>FISH-interphase</td></tr><tr><td style="white-space:nowrap">fish-metaphase<a name="genomic-study-method-type-cs-fish-metaphase"> </a></td><td>FISH-metaphase</td><td>FISH-metaphase</td></tr><tr><td style="white-space:nowrap">flow-cytometry<a name="genomic-study-method-type-cs-flow-cytometry"> </a></td><td>Flow cytometry</td><td>Flow cytometry</td></tr><tr><td style="white-space:nowrap">fish<a name="genomic-study-method-type-cs-fish"> </a></td><td>Fluorescence in situ hybridization (FISH)</td><td>Fluorescence in situ hybridization (FISH)</td></tr><tr><td style="white-space:nowrap">immunohistochemistry<a name="genomic-study-method-type-cs-immunohistochemistry"> </a></td><td>Immunohistochemistry</td><td>Immunohistochemistry</td></tr><tr><td style="white-space:nowrap">karyotyping<a name="genomic-study-method-type-cs-karyotyping"> </a></td><td>Karyotyping</td><td>Karyotyping</td></tr><tr><td style="white-space:nowrap">linkage-analysis<a name="genomic-study-method-type-cs-linkage-analysis"> </a></td><td>Linkage analysis</td><td>Linkage analysis</td></tr><tr><td style="white-space:nowrap">methylation-analysis<a name="genomic-study-method-type-cs-methylation-analysis"> </a></td><td>Methylation analysis</td><td>Methylation analysis</td></tr><tr><td style="white-space:nowrap">msi<a name="genomic-study-method-type-cs-msi"> </a></td><td>Microsatellite instability testing (MSI)</td><td>Microsatellite instability testing (MSI)</td></tr><tr><td style="white-space:nowrap">m-fish<a name="genomic-study-method-type-cs-m-fish"> </a></td><td>Multicolor FISH (M-FISH)</td><td>Multicolor FISH (M-FISH)</td></tr><tr><td style="white-space:nowrap">mutation-scanning-of-select-exons<a name="genomic-study-method-type-cs-mutation-scanning-of-select-exons"> </a></td><td>Mutation scanning of select exons</td><td>Mutation scanning of select exons</td></tr><tr><td style="white-space:nowrap">mutation-scanning-of-the-entire-coding-region<a name="genomic-study-method-type-cs-mutation-scanning-of-the-entire-coding-region"> </a></td><td>Mutation scanning of the entire coding region</td><td>Mutation scanning of the entire coding region</td></tr><tr><td style="white-space:nowrap">protein-analysis<a name="genomic-study-method-type-cs-protein-analysis"> </a></td><td>Protein analysis</td><td>Protein analysis</td></tr><tr><td style="white-space:nowrap">protein-expression<a name="genomic-study-method-type-cs-protein-expression"> </a></td><td>Protein expression</td><td>Protein expression</td></tr><tr><td style="white-space:nowrap">rna-analysis<a name="genomic-study-method-type-cs-rna-analysis"> </a></td><td>RNA analysis</td><td>RNA analysis</td></tr><tr><td style="white-space:nowrap">sequence-analysis-of-select-exons<a name="genomic-study-method-type-cs-sequence-analysis-of-select-exons"> </a></td><td>Sequence analysis of select exons</td><td>Sequence analysis of select exons</td></tr><tr><td style="white-space:nowrap">sequence-analysis-of-the-entire-coding-region<a name="genomic-study-method-type-cs-sequence-analysis-of-the-entire-coding-region"> </a></td><td>Sequence analysis of the entire coding region</td><td>Sequence analysis of the entire coding region</td></tr><tr><td style="white-space:nowrap">sister-chromatid-exchange<a name="genomic-study-method-type-cs-sister-chromatid-exchange"> </a></td><td>Sister chromatid exchange</td><td>Sister chromatid exchange</td></tr><tr><td style="white-space:nowrap">targeted-variant-analysis<a name="genomic-study-method-type-cs-targeted-variant-analysis"> </a></td><td>Targeted variant analysis</td><td>Targeted variant analysis</td></tr><tr><td style="white-space:nowrap">udp<a name="genomic-study-method-type-cs-udp"> </a></td><td>Uniparental disomy study (UPD)</td><td>Uniparental disomy study (UPD)</td></tr><tr><td style="white-space:nowrap">aspe<a name="genomic-study-method-type-cs-aspe"> </a></td><td>Allele-specific primer extension (ASPE)</td><td>Allele-specific primer extension (ASPE)</td></tr><tr><td style="white-space:nowrap">alternative-splicing-detection<a name="genomic-study-method-type-cs-alternative-splicing-detection"> </a></td><td>Alternative splicing detection</td><td>Alternative splicing detection</td></tr><tr><td style="white-space:nowrap">bi-directional-sanger-sequence-analysis<a name="genomic-study-method-type-cs-bi-directional-sanger-sequence-analysis"> </a></td><td>Bi-directional Sanger Sequence Analysis</td><td>Bi-directional Sanger Sequence Analysis</td></tr><tr><td style="white-space:nowrap">c-banding<a name="genomic-study-method-type-cs-c-banding"> </a></td><td>C-banding</td><td>C-banding</td></tr><tr><td style="white-space:nowrap">cia<a name="genomic-study-method-type-cs-cia"> </a></td><td>Chemiluminescent Immunoassay (CIA)</td><td>Chemiluminescent Immunoassay (CIA)</td></tr><tr><td style="white-space:nowrap">chromatin-immunoprecipitation-on-chip<a name="genomic-study-method-type-cs-chromatin-immunoprecipitation-on-chip"> </a></td><td>Chromatin Immunoprecipitation on ChIP</td><td>Chromatin Immunoprecipitation on ChIP</td></tr><tr><td style="white-space:nowrap">comparative-genomic-hybridization<a name="genomic-study-method-type-cs-comparative-genomic-hybridization"> </a></td><td>Comparative Genomic Hybridization</td><td>Comparative Genomic Hybridization</td></tr><tr><td style="white-space:nowrap">damid<a name="genomic-study-method-type-cs-damid"> </a></td><td>DamID</td><td>DamID</td></tr><tr><td style="white-space:nowrap">digital-virtual-karyotyping<a name="genomic-study-method-type-cs-digital-virtual-karyotyping"> </a></td><td>Digital / Virtual karyotyping</td><td>Digital / Virtual karyotyping</td></tr><tr><td style="white-space:nowrap">digital-microfluidic-microspheres<a name="genomic-study-method-type-cs-digital-microfluidic-microspheres"> </a></td><td>Digital microfluidic microspheres</td><td>Digital microfluidic microspheres</td></tr><tr><td style="white-space:nowrap">enzymatic-levels<a name="genomic-study-method-type-cs-enzymatic-levels"> </a></td><td>Enzymatic levels</td><td>Enzymatic levels</td></tr><tr><td style="white-space:nowrap">enzyme-activity<a name="genomic-study-method-type-cs-enzyme-activity"> </a></td><td>Enzyme activity</td><td>Enzyme activity</td></tr><tr><td style="white-space:nowrap">elisa<a name="genomic-study-method-type-cs-elisa"> </a></td><td>Enzyme-Linked Immunosorbent Assays (ELISA)</td><td>Enzyme-Linked Immunosorbent Assays (ELISA)</td></tr><tr><td style="white-space:nowrap">fluorometry<a name="genomic-study-method-type-cs-fluorometry"> </a></td><td>Fluorometry</td><td>Fluorometry</td></tr><tr><td style="white-space:nowrap">fusion-genes-microarrays<a name="genomic-study-method-type-cs-fusion-genes-microarrays"> </a></td><td>Fusion genes microarrays</td><td>Fusion genes microarrays</td></tr><tr><td style="white-space:nowrap">g-banding<a name="genomic-study-method-type-cs-g-banding"> </a></td><td>G-banding</td><td>G-banding</td></tr><tr><td style="white-space:nowrap">gc-ms<a name="genomic-study-method-type-cs-gc-ms"> </a></td><td>Gas chromatographymass spectrometry (GC-MS)</td><td>Gas chromatographymass spectrometry (GC-MS)</td></tr><tr><td style="white-space:nowrap">gene-expression-profiling<a name="genomic-study-method-type-cs-gene-expression-profiling"> </a></td><td>Gene expression profiling</td><td>Gene expression profiling</td></tr><tr><td style="white-space:nowrap">gene-id<a name="genomic-study-method-type-cs-gene-id"> </a></td><td>GeneID</td><td>GeneID</td></tr><tr><td style="white-space:nowrap">gold-nanoparticle-probe-technology<a name="genomic-study-method-type-cs-gold-nanoparticle-probe-technology"> </a></td><td>Gold nanoparticle probe technology</td><td>Gold nanoparticle probe technology</td></tr><tr><td style="white-space:nowrap">hplc<a name="genomic-study-method-type-cs-hplc"> </a></td><td>High-performance liquid chromatography (HPLC)</td><td>High-performance liquid chromatography (HPLC)</td></tr><tr><td style="white-space:nowrap">lc-ms<a name="genomic-study-method-type-cs-lc-ms"> </a></td><td>Liquid chromatography mass spectrometry (LC-MS)</td><td>Liquid chromatography mass spectrometry (LC-MS)</td></tr><tr><td style="white-space:nowrap">lc-ms-ms<a name="genomic-study-method-type-cs-lc-ms-ms"> </a></td><td>Liquid chromatography-tandem mass spectrometry (LC-MS/MS)</td><td>Liquid chromatography-tandem mass spectrometry (LC-MS/MS)</td></tr><tr><td style="white-space:nowrap">metabolite-levels<a name="genomic-study-method-type-cs-metabolite-levels"> </a></td><td>Metabolite levels</td><td>Metabolite levels</td></tr><tr><td style="white-space:nowrap">methylation-specific-pcr<a name="genomic-study-method-type-cs-methylation-specific-pcr"> </a></td><td>Methylation-specific PCR</td><td>Methylation-specific PCR</td></tr><tr><td style="white-space:nowrap">microarray<a name="genomic-study-method-type-cs-microarray"> </a></td><td>Microarray</td><td>Microarray</td></tr><tr><td style="white-space:nowrap">mlpa<a name="genomic-study-method-type-cs-mlpa"> </a></td><td>Multiplex Ligation-dependent Probe Amplification (MLPA)</td><td>Multiplex Ligation-dependent Probe Amplification (MLPA)</td></tr><tr><td style="white-space:nowrap">ngs-mps<a name="genomic-study-method-type-cs-ngs-mps"> </a></td><td>Next-Generation (NGS)/Massively parallel sequencing (MPS)</td><td>Next-Generation (NGS)/Massively parallel sequencing (MPS)</td></tr><tr><td style="white-space:nowrap">ola<a name="genomic-study-method-type-cs-ola"> </a></td><td>Oligonucleotide Ligation Assay (OLA)</td><td>Oligonucleotide Ligation Assay (OLA)</td></tr><tr><td style="white-space:nowrap">oligonucleotide-hybridization-based-dna-sequencing<a name="genomic-study-method-type-cs-oligonucleotide-hybridization-based-dna-sequencing"> </a></td><td>Oligonucleotide hybridization-based DNA sequencing</td><td>Oligonucleotide hybridization-based DNA sequencing</td></tr><tr><td style="white-space:nowrap">other<a name="genomic-study-method-type-cs-other"> </a></td><td>Other</td><td>Other</td></tr><tr><td style="white-space:nowrap">pcr<a name="genomic-study-method-type-cs-pcr"> </a></td><td>PCR</td><td>PCR</td></tr><tr><td style="white-space:nowrap">pcr-with-allele-specific-hybridization<a name="genomic-study-method-type-cs-pcr-with-allele-specific-hybridization"> </a></td><td>PCR with allele specific hybridization</td><td>PCR with allele specific hybridization</td></tr><tr><td style="white-space:nowrap">pcr-rflp-with-southern-hybridization<a name="genomic-study-method-type-cs-pcr-rflp-with-southern-hybridization"> </a></td><td>PCR-RFLP with Southern hybridization</td><td>PCR-RFLP with Southern hybridization</td></tr><tr><td style="white-space:nowrap">protein-truncation-test<a name="genomic-study-method-type-cs-protein-truncation-test"> </a></td><td>Protein truncation test</td><td>Protein truncation test</td></tr><tr><td style="white-space:nowrap">pyrosequencing<a name="genomic-study-method-type-cs-pyrosequencing"> </a></td><td>Pyrosequencing</td><td>Pyrosequencing</td></tr><tr><td style="white-space:nowrap">q-banding<a name="genomic-study-method-type-cs-q-banding"> </a></td><td>Q-banding</td><td>Q-banding</td></tr><tr><td style="white-space:nowrap">qpcr<a name="genomic-study-method-type-cs-qpcr"> </a></td><td>Quantitative PCR (qPCR)</td><td>Quantitative PCR (qPCR)</td></tr><tr><td style="white-space:nowrap">r-banding<a name="genomic-study-method-type-cs-r-banding"> </a></td><td>R-banding</td><td>R-banding</td></tr><tr><td style="white-space:nowrap">rflp<a name="genomic-study-method-type-cs-rflp"> </a></td><td>RFLP</td><td>RFLP</td></tr><tr><td style="white-space:nowrap">rt-lamp<a name="genomic-study-method-type-cs-rt-lamp"> </a></td><td>RT-LAMP</td><td>RT-LAMP</td></tr><tr><td style="white-space:nowrap">rt-pcr<a name="genomic-study-method-type-cs-rt-pcr"> </a></td><td>RT-PCR</td><td>RT-PCR</td></tr><tr><td style="white-space:nowrap">rt-pcr-with-gel-analysis<a name="genomic-study-method-type-cs-rt-pcr-with-gel-analysis"> </a></td><td>RT-PCR with gel analysis</td><td>RT-PCR with gel analysis</td></tr><tr><td style="white-space:nowrap">rt-qpcr<a name="genomic-study-method-type-cs-rt-qpcr"> </a></td><td>RT-qPCR</td><td>RT-qPCR</td></tr><tr><td style="white-space:nowrap">snp-detection<a name="genomic-study-method-type-cs-snp-detection"> </a></td><td>SNP Detection</td><td>SNP Detection</td></tr><tr><td style="white-space:nowrap">silver-staining<a name="genomic-study-method-type-cs-silver-staining"> </a></td><td>Silver staining</td><td>Silver staining</td></tr><tr><td style="white-space:nowrap">sky<a name="genomic-study-method-type-cs-sky"> </a></td><td>Spectral karyotyping (SKY)</td><td>Spectral karyotyping (SKY)</td></tr><tr><td style="white-space:nowrap">t-banding<a name="genomic-study-method-type-cs-t-banding"> </a></td><td>T-banding</td><td>T-banding</td></tr><tr><td style="white-space:nowrap">ms-ms<a name="genomic-study-method-type-cs-ms-ms"> </a></td><td>Tandem mass spectrometry (MS/MS)</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="genomic-study-method-type-cs-tetra-nucleotide-repeat-by-pcr-or-southern-blot"> </a></td><td>Tetra-nucleotide repeat by PCR or Southern Blot</td><td>Tetra-nucleotide repeat by PCR or Southern Blot</td></tr><tr><td style="white-space:nowrap">tiling-arrays<a name="genomic-study-method-type-cs-tiling-arrays"> </a></td><td>Tiling Arrays</td><td>Tiling Arrays</td></tr><tr><td style="white-space:nowrap">trinucleotide-repeat-by-pcr-or-southern-blot<a name="genomic-study-method-type-cs-trinucleotide-repeat-by-pcr-or-southern-blot"> </a></td><td>Trinucleotide repeat by PCR or Southern Blot</td><td>Trinucleotide repeat by PCR or Southern Blot</td></tr><tr><td style="white-space:nowrap">uni-directional-sanger-sequencing<a name="genomic-study-method-type-cs-uni-directional-sanger-sequencing"> </a></td><td>Uni-directional Sanger sequencing</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="informative">
          <extension
                     url="http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom">
            <valueCanonical
                            value="http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"/>
          </extension>
        </valueCode>
      </extension>
      <url
           value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs"/>
      <version value="4.0.0-cibuild"/>
      <name value="GenomicStudyMethodTypeCS"/>
      <title value="Genomic Study Method Type CodeSystem"/>
      <status value="active"/>
      <experimental value="true"/>
      <date value="2025-11-08T00:09:50+00:00"/>
      <publisher value="HL7 International / Clinical Genomics"/>
      <contact>
        <name value="HL7 International / Clinical Genomics"/>
        <telecom>
          <system value="url"/>
          <value value="http://www.hl7.org/Special/committees/clingenomics"/>
        </telecom>
        <telecom>
          <system value="email"/>
          <value value="cg@lists.HL7.org"/>
        </telecom>
      </contact>
      <description
                   value="Backport of http://hl7.org/fhir/genomicstudy-methodtype"/>
      <jurisdiction>
        <coding>
          <system value="http://unstats.un.org/unsd/methods/m49/m49.htm"/>
          <code value="001"/>
          <display value="World"/>
        </coding>
      </jurisdiction>
      <caseSensitive value="true"/>
      <content value="complete"/>
      <count value="81"/>
      <concept>
        <code value="biochemical-genetics"/>
        <display value="Biochemical Genetics"/>
        <definition value="Biochemical Genetics"/>
      </concept>
      <concept>
        <code value="cytogenetics"/>
        <display value="Cytogenetics"/>
        <definition value="Cytogenetics"/>
      </concept>
      <concept>
        <code value="molecular-genetics"/>
        <display value="Molecular Genetics"/>
        <definition value="Molecular Genetics"/>
      </concept>
      <concept>
        <code value="analyte"/>
        <display value="Analyte"/>
        <definition value="Analyte"/>
      </concept>
      <concept>
        <code value="chromosome-breakage-studies"/>
        <display value="Chromosome breakage studies"/>
        <definition value="Chromosome breakage studies"/>
      </concept>
      <concept>
        <code value="deletion-duplication-analysis"/>
        <display value="Deletion/duplication analysis"/>
        <definition value="Deletion/duplication analysis"/>
      </concept>
      <concept>
        <code value="detection-of-homozygosity"/>
        <display value="Detection of homozygosity"/>
        <definition value="Detection of homozygosity"/>
      </concept>
      <concept>
        <code value="enzyme-assay"/>
        <display value="Enzyme assay"/>
        <definition value="Enzyme assay"/>
      </concept>
      <concept>
        <code value="fish-interphase"/>
        <display value="FISH-interphase"/>
        <definition value="FISH-interphase"/>
      </concept>
      <concept>
        <code value="fish-metaphase"/>
        <display value="FISH-metaphase"/>
        <definition value="FISH-metaphase"/>
      </concept>
      <concept>
        <code value="flow-cytometry"/>
        <display value="Flow cytometry"/>
        <definition value="Flow cytometry"/>
      </concept>
      <concept>
        <code value="fish"/>
        <display value="Fluorescence in situ hybridization (FISH)"/>
        <definition value="Fluorescence in situ hybridization (FISH)"/>
      </concept>
      <concept>
        <code value="immunohistochemistry"/>
        <display value="Immunohistochemistry"/>
        <definition value="Immunohistochemistry"/>
      </concept>
      <concept>
        <code value="karyotyping"/>
        <display value="Karyotyping"/>
        <definition value="Karyotyping"/>
      </concept>
      <concept>
        <code value="linkage-analysis"/>
        <display value="Linkage analysis"/>
        <definition value="Linkage analysis"/>
      </concept>
      <concept>
        <code value="methylation-analysis"/>
        <display value="Methylation analysis"/>
        <definition value="Methylation analysis"/>
      </concept>
      <concept>
        <code value="msi"/>
        <display value="Microsatellite instability testing (MSI)"/>
        <definition value="Microsatellite instability testing (MSI)"/>
      </concept>
      <concept>
        <code value="m-fish"/>
        <display value="Multicolor FISH (M-FISH)"/>
        <definition value="Multicolor FISH (M-FISH)"/>
      </concept>
      <concept>
        <code value="mutation-scanning-of-select-exons"/>
        <display value="Mutation scanning of select exons"/>
        <definition 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"/>
        <definition value="Mutation scanning of the entire coding region"/>
      </concept>
      <concept>
        <code value="protein-analysis"/>
        <display value="Protein analysis"/>
        <definition value="Protein analysis"/>
      </concept>
      <concept>
        <code value="protein-expression"/>
        <display value="Protein expression"/>
        <definition value="Protein expression"/>
      </concept>
      <concept>
        <code value="rna-analysis"/>
        <display value="RNA analysis"/>
        <definition value="RNA analysis"/>
      </concept>
      <concept>
        <code value="sequence-analysis-of-select-exons"/>
        <display value="Sequence analysis of select exons"/>
        <definition 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"/>
        <definition value="Sequence analysis of the entire coding region"/>
      </concept>
      <concept>
        <code value="sister-chromatid-exchange"/>
        <display value="Sister chromatid exchange"/>
        <definition value="Sister chromatid exchange"/>
      </concept>
      <concept>
        <code value="targeted-variant-analysis"/>
        <display value="Targeted variant analysis"/>
        <definition value="Targeted variant analysis"/>
      </concept>
      <concept>
        <code value="udp"/>
        <display value="Uniparental disomy study (UPD)"/>
        <definition value="Uniparental disomy study (UPD)"/>
      </concept>
      <concept>
        <code value="aspe"/>
        <display value="Allele-specific primer extension (ASPE)"/>
        <definition value="Allele-specific primer extension (ASPE)"/>
      </concept>
      <concept>
        <code value="alternative-splicing-detection"/>
        <display value="Alternative splicing detection"/>
        <definition value="Alternative splicing detection"/>
      </concept>
      <concept>
        <code value="bi-directional-sanger-sequence-analysis"/>
        <display value="Bi-directional Sanger Sequence Analysis"/>
        <definition value="Bi-directional Sanger Sequence Analysis"/>
      </concept>
      <concept>
        <code value="c-banding"/>
        <display value="C-banding"/>
        <definition value="C-banding"/>
      </concept>
      <concept>
        <code value="cia"/>
        <display value="Chemiluminescent Immunoassay (CIA)"/>
        <definition value="Chemiluminescent Immunoassay (CIA)"/>
      </concept>
      <concept>
        <code value="chromatin-immunoprecipitation-on-chip"/>
        <display value="Chromatin Immunoprecipitation on ChIP"/>
        <definition value="Chromatin Immunoprecipitation on ChIP"/>
      </concept>
      <concept>
        <code value="comparative-genomic-hybridization"/>
        <display value="Comparative Genomic Hybridization"/>
        <definition value="Comparative Genomic Hybridization"/>
      </concept>
      <concept>
        <code value="damid"/>
        <display value="DamID"/>
        <definition value="DamID"/>
      </concept>
      <concept>
        <code value="digital-virtual-karyotyping"/>
        <display value="Digital / Virtual karyotyping"/>
        <definition value="Digital / Virtual karyotyping"/>
      </concept>
      <concept>
        <code value="digital-microfluidic-microspheres"/>
        <display value="Digital microfluidic microspheres"/>
        <definition value="Digital microfluidic microspheres"/>
      </concept>
      <concept>
        <code value="enzymatic-levels"/>
        <display value="Enzymatic levels"/>
        <definition value="Enzymatic levels"/>
      </concept>
      <concept>
        <code value="enzyme-activity"/>
        <display value="Enzyme activity"/>
        <definition value="Enzyme activity"/>
      </concept>
      <concept>
        <code value="elisa"/>
        <display value="Enzyme-Linked Immunosorbent Assays (ELISA)"/>
        <definition value="Enzyme-Linked Immunosorbent Assays (ELISA)"/>
      </concept>
      <concept>
        <code value="fluorometry"/>
        <display value="Fluorometry"/>
        <definition value="Fluorometry"/>
      </concept>
      <concept>
        <code value="fusion-genes-microarrays"/>
        <display value="Fusion genes microarrays"/>
        <definition value="Fusion genes microarrays"/>
      </concept>
      <concept>
        <code value="g-banding"/>
        <display value="G-banding"/>
        <definition value="G-banding"/>
      </concept>
      <concept>
        <code value="gc-ms"/>
        <display value="Gas chromatographymass spectrometry (GC-MS)"/>
        <definition value="Gas chromatographymass spectrometry (GC-MS)"/>
      </concept>
      <concept>
        <code value="gene-expression-profiling"/>
        <display value="Gene expression profiling"/>
        <definition value="Gene expression profiling"/>
      </concept>
      <concept>
        <code value="gene-id"/>
        <display value="GeneID"/>
        <definition value="GeneID"/>
      </concept>
      <concept>
        <code value="gold-nanoparticle-probe-technology"/>
        <display value="Gold nanoparticle probe technology"/>
        <definition value="Gold nanoparticle probe technology"/>
      </concept>
      <concept>
        <code value="hplc"/>
        <display value="High-performance liquid chromatography (HPLC)"/>
        <definition value="High-performance liquid chromatography (HPLC)"/>
      </concept>
      <concept>
        <code value="lc-ms"/>
        <display value="Liquid chromatography mass spectrometry (LC-MS)"/>
        <definition value="Liquid chromatography mass spectrometry (LC-MS)"/>
      </concept>
      <concept>
        <code value="lc-ms-ms"/>
        <display
                 value="Liquid chromatography-tandem mass spectrometry (LC-MS/MS)"/>
        <definition
                    value="Liquid chromatography-tandem mass spectrometry (LC-MS/MS)"/>
      </concept>
      <concept>
        <code value="metabolite-levels"/>
        <display value="Metabolite levels"/>
        <definition value="Metabolite levels"/>
      </concept>
      <concept>
        <code value="methylation-specific-pcr"/>
        <display value="Methylation-specific PCR"/>
        <definition value="Methylation-specific PCR"/>
      </concept>
      <concept>
        <code value="microarray"/>
        <display value="Microarray"/>
        <definition value="Microarray"/>
      </concept>
      <concept>
        <code value="mlpa"/>
        <display value="Multiplex Ligation-dependent Probe Amplification (MLPA)"/>
        <definition
                    value="Multiplex Ligation-dependent Probe Amplification (MLPA)"/>
      </concept>
      <concept>
        <code value="ngs-mps"/>
        <display
                 value="Next-Generation (NGS)/Massively parallel sequencing (MPS)"/>
        <definition
                    value="Next-Generation (NGS)/Massively parallel sequencing (MPS)"/>
      </concept>
      <concept>
        <code value="ola"/>
        <display value="Oligonucleotide Ligation Assay (OLA)"/>
        <definition value="Oligonucleotide Ligation Assay (OLA)"/>
      </concept>
      <concept>
        <code value="oligonucleotide-hybridization-based-dna-sequencing"/>
        <display value="Oligonucleotide hybridization-based DNA sequencing"/>
        <definition value="Oligonucleotide hybridization-based DNA sequencing"/>
      </concept>
      <concept>
        <code value="other"/>
        <display value="Other"/>
        <definition value="Other"/>
      </concept>
      <concept>
        <code value="pcr"/>
        <display value="PCR"/>
        <definition value="PCR"/>
      </concept>
      <concept>
        <code value="pcr-with-allele-specific-hybridization"/>
        <display value="PCR with allele specific hybridization"/>
        <definition value="PCR with allele specific hybridization"/>
      </concept>
      <concept>
        <code value="pcr-rflp-with-southern-hybridization"/>
        <display value="PCR-RFLP with Southern hybridization"/>
        <definition value="PCR-RFLP with Southern hybridization"/>
      </concept>
      <concept>
        <code value="protein-truncation-test"/>
        <display value="Protein truncation test"/>
        <definition value="Protein truncation test"/>
      </concept>
      <concept>
        <code value="pyrosequencing"/>
        <display value="Pyrosequencing"/>
        <definition value="Pyrosequencing"/>
      </concept>
      <concept>
        <code value="q-banding"/>
        <display value="Q-banding"/>
        <definition value="Q-banding"/>
      </concept>
      <concept>
        <code value="qpcr"/>
        <display value="Quantitative PCR (qPCR)"/>
        <definition value="Quantitative PCR (qPCR)"/>
      </concept>
      <concept>
        <code value="r-banding"/>
        <display value="R-banding"/>
        <definition value="R-banding"/>
      </concept>
      <concept>
        <code value="rflp"/>
        <display value="RFLP"/>
        <definition value="RFLP"/>
      </concept>
      <concept>
        <code value="rt-lamp"/>
        <display value="RT-LAMP"/>
        <definition value="RT-LAMP"/>
      </concept>
      <concept>
        <code value="rt-pcr"/>
        <display value="RT-PCR"/>
        <definition value="RT-PCR"/>
      </concept>
      <concept>
        <code value="rt-pcr-with-gel-analysis"/>
        <display value="RT-PCR with gel analysis"/>
        <definition value="RT-PCR with gel analysis"/>
      </concept>
      <concept>
        <code value="rt-qpcr"/>
        <display value="RT-qPCR"/>
        <definition value="RT-qPCR"/>
      </concept>
      <concept>
        <code value="snp-detection"/>
        <display value="SNP Detection"/>
        <definition value="SNP Detection"/>
      </concept>
      <concept>
        <code value="silver-staining"/>
        <display value="Silver staining"/>
        <definition value="Silver staining"/>
      </concept>
      <concept>
        <code value="sky"/>
        <display value="Spectral karyotyping (SKY)"/>
        <definition value="Spectral karyotyping (SKY)"/>
      </concept>
      <concept>
        <code value="t-banding"/>
        <display value="T-banding"/>
        <definition value="T-banding"/>
      </concept>
      <concept>
        <code value="ms-ms"/>
        <display value="Tandem mass spectrometry (MS/MS)"/>
        <definition 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"/>
        <definition value="Tetra-nucleotide repeat by PCR or Southern Blot"/>
      </concept>
      <concept>
        <code value="tiling-arrays"/>
        <display value="Tiling Arrays"/>
        <definition value="Tiling Arrays"/>
      </concept>
      <concept>
        <code value="trinucleotide-repeat-by-pcr-or-southern-blot"/>
        <display value="Trinucleotide repeat by PCR or Southern Blot"/>
        <definition value="Trinucleotide repeat by PCR or Southern Blot"/>
      </concept>
      <concept>
        <code value="uni-directional-sanger-sequencing"/>
        <display value="Uni-directional Sanger sequencing"/>
        <definition value="Uni-directional Sanger sequencing"/>
      </concept>
    </CodeSystem>