<?xml version="1.0" encoding="UTF-8"?><CodeSystem xmlns="http://hl7.org/fhir"><id value="genomicstudy-methodtype"/><meta><lastUpdated value="2022-12-13T15:12:54-05:00"/><profile value="http://hl7.org/fhir/StructureDefinition/shareablecodesystem"/></meta><text><status value="generated"/><div xmlns="http://www.w3.org/1999/xhtml"><p>This 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 chromatographyâ€“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="0"/></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="5.0.0-snapshot3"/><name value="GenomicStudyMethodType"/><title value="GenomicStudyMethodType"/><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_method_category.txt), [method category](https://ftp.ncbi.nlm.nih.gov/pub/GTR/standard_terms/Method_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 chromatographyâ€“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>