Genomic Study Method Type
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Date2022-08-16T16:49:24-05:00PublisherHL7 (FHIR Project)DescriptionThe 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)
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This code system
http://hl7.org/fhir/genomicstudy-methodtype defines the following codes:
{
"description" : "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)",
"date" : "2022-08-16T16:49:24-05:00",
"meta" : {
"lastUpdated" : "2023-03-25T23:21:02-05:00",
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"name" : "GenomicStudyMethodType",
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"resourceType" : "CodeSystem",
"title" : "Genomic Study Method Type",
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"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\">\n <p>This code system \n <code>http://hl7.org/fhir/genomicstudy-methodtype</code> defines the following codes:\n </p>\n <table class=\"codes\">\n <tr>\n <td style=\"white-space:nowrap\">\n <b>Code</b>\n </td>\n <td>\n <b>Display</b>\n </td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">biochemical-genetics\n <a name=\"genomicstudy-methodtype-biochemical-genetics\"> </a>\n </td>\n <td>Biochemical Genetics</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">cytogenetics\n <a name=\"genomicstudy-methodtype-cytogenetics\"> </a>\n </td>\n <td>Cytogenetics</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">molecular-genetics\n <a name=\"genomicstudy-methodtype-molecular-genetics\"> </a>\n </td>\n <td>Molecular Genetics</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">analyte\n <a name=\"genomicstudy-methodtype-analyte\"> </a>\n </td>\n <td>Analyte</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">chromosome-breakage-studies\n <a name=\"genomicstudy-methodtype-chromosome-breakage-studies\"> </a>\n </td>\n <td>Chromosome breakage studies</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">deletion-duplication-analysis\n <a name=\"genomicstudy-methodtype-deletion-duplication-analysis\"> </a>\n </td>\n <td>Deletion/duplication analysis</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">detection-of-homozygosity\n <a name=\"genomicstudy-methodtype-detection-of-homozygosity\"> </a>\n </td>\n <td>Detection of homozygosity</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">enzyme-assay\n <a name=\"genomicstudy-methodtype-enzyme-assay\"> </a>\n </td>\n <td>Enzyme assay</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">fish-interphase\n <a name=\"genomicstudy-methodtype-fish-interphase\"> </a>\n </td>\n <td>FISH-interphase</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">fish-metaphase\n <a name=\"genomicstudy-methodtype-fish-metaphase\"> </a>\n </td>\n <td>FISH-metaphase</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">flow-cytometry\n <a name=\"genomicstudy-methodtype-flow-cytometry\"> </a>\n </td>\n <td>Flow cytometry</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">fish\n <a name=\"genomicstudy-methodtype-fish\"> </a>\n </td>\n <td>Fluorescence in situ hybridization (FISH)</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">immunohistochemistry\n <a name=\"genomicstudy-methodtype-immunohistochemistry\"> </a>\n </td>\n <td>Immunohistochemistry</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">karyotyping\n <a name=\"genomicstudy-methodtype-karyotyping\"> </a>\n </td>\n <td>Karyotyping</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">linkage-analysis\n <a name=\"genomicstudy-methodtype-linkage-analysis\"> </a>\n </td>\n <td>Linkage analysis</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">methylation-analysis\n <a name=\"genomicstudy-methodtype-methylation-analysis\"> </a>\n </td>\n <td>Methylation analysis</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">msi\n <a name=\"genomicstudy-methodtype-msi\"> </a>\n </td>\n <td>Microsatellite instability testing (MSI)</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">m-fish\n <a name=\"genomicstudy-methodtype-m-fish\"> </a>\n </td>\n <td>Multicolor FISH (M-FISH)</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">mutation-scanning-of-select-exons\n <a name=\"genomicstudy-methodtype-mutation-scanning-of-select-exons\"> </a>\n </td>\n <td>Mutation scanning of select exons</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">mutation-scanning-of-the-entire-coding-region\n <a name=\"genomicstudy-methodtype-mutation-scanning-of-the-entire-coding-region\"> </a>\n </td>\n <td>Mutation scanning of the entire coding region</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">protein-analysis\n <a name=\"genomicstudy-methodtype-protein-analysis\"> </a>\n </td>\n <td>Protein analysis</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">protein-expression\n <a name=\"genomicstudy-methodtype-protein-expression\"> </a>\n </td>\n <td>Protein expression</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">rna-analysis\n <a name=\"genomicstudy-methodtype-rna-analysis\"> </a>\n </td>\n <td>RNA analysis</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">sequence-analysis-of-select-exons\n <a name=\"genomicstudy-methodtype-sequence-analysis-of-select-exons\"> </a>\n </td>\n <td>Sequence analysis of select exons</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">sequence-analysis-of-the-entire-coding-region\n <a name=\"genomicstudy-methodtype-sequence-analysis-of-the-entire-coding-region\"> </a>\n </td>\n <td>Sequence analysis of the entire coding region</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">sister-chromatid-exchange\n <a name=\"genomicstudy-methodtype-sister-chromatid-exchange\"> </a>\n </td>\n <td>Sister chromatid exchange</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">targeted-variant-analysis\n <a name=\"genomicstudy-methodtype-targeted-variant-analysis\"> </a>\n </td>\n <td>Targeted variant analysis</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">udp\n <a name=\"genomicstudy-methodtype-udp\"> </a>\n </td>\n <td>Uniparental disomy study (UPD)</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">aspe\n <a name=\"genomicstudy-methodtype-aspe\"> </a>\n </td>\n <td>Allele-specific primer extension (ASPE)</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">alternative-splicing-detection\n <a name=\"genomicstudy-methodtype-alternative-splicing-detection\"> </a>\n </td>\n <td>Alternative splicing detection</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">bi-directional-sanger-sequence-analysis\n <a name=\"genomicstudy-methodtype-bi-directional-sanger-sequence-analysis\"> </a>\n </td>\n <td>Bi-directional Sanger Sequence Analysis</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">c-banding\n <a name=\"genomicstudy-methodtype-c-banding\"> </a>\n </td>\n <td>C-banding</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">cia\n <a name=\"genomicstudy-methodtype-cia\"> </a>\n </td>\n <td>Chemiluminescent Immunoassay (CIA)</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">chromatin-immunoprecipitation-on-chip\n <a name=\"genomicstudy-methodtype-chromatin-immunoprecipitation-on-chip\"> </a>\n </td>\n <td>Chromatin Immunoprecipitation on ChIP</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">comparative-genomic-hybridization\n <a name=\"genomicstudy-methodtype-comparative-genomic-hybridization\"> </a>\n </td>\n <td>Comparative Genomic Hybridization</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">damid\n <a name=\"genomicstudy-methodtype-damid\"> </a>\n </td>\n <td>DamID</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">digital-virtual-karyotyping\n <a name=\"genomicstudy-methodtype-digital-virtual-karyotyping\"> </a>\n </td>\n <td>Digital / Virtual karyotyping</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">digital-microfluidic-microspheres\n <a name=\"genomicstudy-methodtype-digital-microfluidic-microspheres\"> </a>\n </td>\n <td>Digital microfluidic microspheres</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">enzymatic-levels\n <a name=\"genomicstudy-methodtype-enzymatic-levels\"> </a>\n </td>\n <td>Enzymatic levels</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">enzyme-activity\n <a name=\"genomicstudy-methodtype-enzyme-activity\"> </a>\n </td>\n <td>Enzyme activity</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">elisa\n <a name=\"genomicstudy-methodtype-elisa\"> </a>\n </td>\n <td>Enzyme-Linked Immunosorbent Assays (ELISA)</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">fluorometry\n <a name=\"genomicstudy-methodtype-fluorometry\"> </a>\n </td>\n <td>Fluorometry</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">fusion-genes-microarrays\n <a name=\"genomicstudy-methodtype-fusion-genes-microarrays\"> </a>\n </td>\n <td>Fusion genes microarrays</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">g-banding\n <a name=\"genomicstudy-methodtype-g-banding\"> </a>\n </td>\n <td>G-banding</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">gc-ms\n <a name=\"genomicstudy-methodtype-gc-ms\"> </a>\n </td>\n <td>Gas chromatography–mass spectrometry (GC-MS)</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">gene-expression-profiling\n <a name=\"genomicstudy-methodtype-gene-expression-profiling\"> </a>\n </td>\n <td>Gene expression profiling</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">gene-id\n <a name=\"genomicstudy-methodtype-gene-id\"> </a>\n </td>\n <td>GeneID</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">gold-nanoparticle-probe-technology\n <a name=\"genomicstudy-methodtype-gold-nanoparticle-probe-technology\"> </a>\n </td>\n <td>Gold nanoparticle probe technology</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">hplc\n <a name=\"genomicstudy-methodtype-hplc\"> </a>\n </td>\n <td>High-performance liquid chromatography (HPLC)</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">lc-ms\n <a name=\"genomicstudy-methodtype-lc-ms\"> </a>\n </td>\n <td>Liquid chromatography mass spectrometry (LC-MS)</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">lc-ms-ms\n <a name=\"genomicstudy-methodtype-lc-ms-ms\"> </a>\n </td>\n <td>Liquid chromatography-tandem mass spectrometry (LC-MS/MS)</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">metabolite-levels\n <a name=\"genomicstudy-methodtype-metabolite-levels\"> </a>\n </td>\n <td>Metabolite levels</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">methylation-specific-pcr\n <a name=\"genomicstudy-methodtype-methylation-specific-pcr\"> </a>\n </td>\n <td>Methylation-specific PCR</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">microarray\n <a name=\"genomicstudy-methodtype-microarray\"> </a>\n </td>\n <td>Microarray</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">mlpa\n <a name=\"genomicstudy-methodtype-mlpa\"> </a>\n </td>\n <td>Multiplex Ligation-dependent Probe Amplification (MLPA)</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">ngs-mps\n <a name=\"genomicstudy-methodtype-ngs-mps\"> </a>\n </td>\n <td>Next-Generation (NGS)/Massively parallel sequencing (MPS)</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">ola\n <a name=\"genomicstudy-methodtype-ola\"> </a>\n </td>\n <td>Oligonucleotide Ligation Assay (OLA)</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">oligonucleotide-hybridization-based-dna-sequencing\n <a name=\"genomicstudy-methodtype-oligonucleotide-hybridization-based-dna-sequencing\"> </a>\n </td>\n <td>Oligonucleotide hybridization-based DNA sequencing</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">other\n <a name=\"genomicstudy-methodtype-other\"> </a>\n </td>\n <td>Other</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">pcr\n <a name=\"genomicstudy-methodtype-pcr\"> </a>\n </td>\n <td>PCR</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">pcr-with-allele-specific-hybridization\n <a name=\"genomicstudy-methodtype-pcr-with-allele-specific-hybridization\"> </a>\n </td>\n <td>PCR with allele specific hybridization</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">pcr-rflp-with-southern-hybridization\n <a name=\"genomicstudy-methodtype-pcr-rflp-with-southern-hybridization\"> </a>\n </td>\n <td>PCR-RFLP with Southern hybridization</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">protein-truncation-test\n <a name=\"genomicstudy-methodtype-protein-truncation-test\"> </a>\n </td>\n <td>Protein truncation test</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">pyrosequencing\n <a name=\"genomicstudy-methodtype-pyrosequencing\"> </a>\n </td>\n <td>Pyrosequencing</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">q-banding\n <a name=\"genomicstudy-methodtype-q-banding\"> </a>\n </td>\n <td>Q-banding</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">qpcr\n <a name=\"genomicstudy-methodtype-qpcr\"> </a>\n </td>\n <td>Quantitative PCR (qPCR)</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">r-banding\n <a name=\"genomicstudy-methodtype-r-banding\"> </a>\n </td>\n <td>R-banding</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">rflp\n <a name=\"genomicstudy-methodtype-rflp\"> </a>\n </td>\n <td>RFLP</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">rt-lamp\n <a name=\"genomicstudy-methodtype-rt-lamp\"> </a>\n </td>\n <td>RT-LAMP</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">rt-pcr\n <a name=\"genomicstudy-methodtype-rt-pcr\"> </a>\n </td>\n <td>RT-PCR</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">rt-pcr-with-gel-analysis\n <a name=\"genomicstudy-methodtype-rt-pcr-with-gel-analysis\"> </a>\n </td>\n <td>RT-PCR with gel analysis</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">rt-qpcr\n <a name=\"genomicstudy-methodtype-rt-qpcr\"> </a>\n </td>\n <td>RT-qPCR</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">snp-detection\n <a name=\"genomicstudy-methodtype-snp-detection\"> </a>\n </td>\n <td>SNP Detection</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">silver-staining\n <a name=\"genomicstudy-methodtype-silver-staining\"> </a>\n </td>\n <td>Silver staining</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">sky\n <a name=\"genomicstudy-methodtype-sky\"> </a>\n </td>\n <td>Spectral karyotyping (SKY)</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">t-banding\n <a name=\"genomicstudy-methodtype-t-banding\"> </a>\n </td>\n <td>T-banding</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">ms-ms\n <a name=\"genomicstudy-methodtype-ms-ms\"> </a>\n </td>\n <td>Tandem mass spectrometry (MS/MS)</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">tetra-nucleotide-repeat-by-pcr-or-southern-blot\n <a name=\"genomicstudy-methodtype-tetra-nucleotide-repeat-by-pcr-or-southern-blot\"> </a>\n </td>\n <td>Tetra-nucleotide repeat by PCR or Southern Blot</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">tiling-arrays\n <a name=\"genomicstudy-methodtype-tiling-arrays\"> </a>\n </td>\n <td>Tiling Arrays</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">trinucleotide-repeat-by-pcr-or-southern-blot\n <a name=\"genomicstudy-methodtype-trinucleotide-repeat-by-pcr-or-southern-blot\"> </a>\n </td>\n <td>Trinucleotide repeat by PCR or Southern Blot</td>\n </tr>\n <tr>\n <td style=\"white-space:nowrap\">uni-directional-sanger-sequencing\n <a name=\"genomicstudy-methodtype-uni-directional-sanger-sequencing\"> </a>\n </td>\n <td>Uni-directional Sanger sequencing</td>\n </tr>\n </table>\n </div>",
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}
}