This page is part of the FHIR Specification (v5.0.0-ballot: FHIR R5 Ballot Preview). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions
Clinical Genomics Work Group | Maturity Level: N/A | Standards Status: Informative |
Raw JSON (canonical form + also see JSON Format Specification)
Definition for Code SystemGenomicStudyMethodType
{ "resourceType" : "CodeSystem", "id" : "genomicstudy-methodtype", "meta" : { "lastUpdated" : "2022-09-06T19:58:29-05:00", "profile" : ["http://hl7.org/fhir/StructureDefinition/shareablecodesystem"] }, "text" : { "status" : "generated", "div" : "<div>!-- Snipped for Brevity --></div>" }, "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg", "valueCode" : "cg" }, { "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status", "valueCode" : "trial-use" }, { "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm", "valueInteger" : 0 }], "url" : "http://hl7.org/fhir/genomicstudy-methodtype", "identifier" : [{ "system" : "urn:ietf:rfc:3986", "value" : "urn:oid:2.16.840.1.113883.4.642.4.1979" }], "version" : "5.0.0-ballot", "name" : "GenomicStudyMethodType", "title" : "GenomicStudyMethodType", "status" : "draft", "experimental" : false, "date" : "2022-08-16T16:49:24-05:00", "publisher" : "HL7 (FHIR Project)", "contact" : [{ "telecom" : [{ "system" : "url", "value" : "http://hl7.org/fhir" }, { "system" : "email", "value" : "fhir@lists.hl7.org" }] }], "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)", "caseSensitive" : true, "valueSet" : "http://hl7.org/fhir/ValueSet/genomicstudy-methodtype", "content" : "complete", "concept" : [{ "code" : "biochemical-genetics", "display" : "Biochemical Genetics" }, { "code" : "cytogenetics", "display" : "Cytogenetics" }, { "code" : "molecular-genetics", "display" : "Molecular Genetics" }, { "code" : "analyte", "display" : "Analyte" }, { "code" : "chromosome-breakage-studies", "display" : "Chromosome breakage studies" }, { "code" : "deletion-duplication-analysis", "display" : "Deletion/duplication analysis" }, { "code" : "detection-of-homozygosity", "display" : "Detection of homozygosity" }, { "code" : "enzyme-assay", "display" : "Enzyme assay" }, { "code" : "fish-interphase", "display" : "FISH-interphase" }, { "code" : "fish-metaphase", "display" : "FISH-metaphase" }, { "code" : "flow-cytometry", "display" : "Flow cytometry" }, { "code" : "fish", "display" : "Fluorescence in situ hybridization (FISH)" }, { "code" : "immunohistochemistry", "display" : "Immunohistochemistry" }, { "code" : "karyotyping", "display" : "Karyotyping" }, { "code" : "linkage-analysis", "display" : "Linkage analysis" }, { "code" : "methylation-analysis", "display" : "Methylation analysis" }, { "code" : "msi", "display" : "Microsatellite instability testing (MSI)" }, { "code" : "m-fish", "display" : "Multicolor FISH (M-FISH)" }, { "code" : "mutation-scanning-of-select-exons", "display" : "Mutation scanning of select exons" }, { "code" : "mutation-scanning-of-the-entire-coding-region", "display" : "Mutation scanning of the entire coding region" }, { "code" : "protein-analysis", "display" : "Protein analysis" }, { "code" : "protein-expression", "display" : "Protein expression" }, { "code" : "rna-analysis", "display" : "RNA analysis" }, { "code" : "sequence-analysis-of-select-exons", "display" : "Sequence analysis of select exons" }, { "code" : "sequence-analysis-of-the-entire-coding-region", "display" : "Sequence analysis of the entire coding region" }, { "code" : "sister-chromatid-exchange", "display" : "Sister chromatid exchange" }, { "code" : "targeted-variant-analysis", "display" : "Targeted variant analysis" }, { "code" : "udp", "display" : "Uniparental disomy study (UPD)" }, { "code" : "aspe", "display" : "Allele-specific primer extension (ASPE)" }, { "code" : "alternative-splicing-detection", "display" : "Alternative splicing detection" }, { "code" : "bi-directional-sanger-sequence-analysis", "display" : "Bi-directional Sanger Sequence Analysis" }, { "code" : "c-banding", "display" : "C-banding" }, { "code" : "cia", "display" : "Chemiluminescent Immunoassay (CIA)" }, { "code" : "chromatin-immunoprecipitation-on-chip", "display" : "Chromatin Immunoprecipitation on ChIP" }, { "code" : "comparative-genomic-hybridization", "display" : "Comparative Genomic Hybridization" }, { "code" : "damid", "display" : "DamID" }, { "code" : "digital-virtual-karyotyping", "display" : "Digital / Virtual karyotyping" }, { "code" : "digital-microfluidic-microspheres", "display" : "Digital microfluidic microspheres" }, { "code" : "enzymatic-levels", "display" : "Enzymatic levels" }, { "code" : "enzyme-activity", "display" : "Enzyme activity" }, { "code" : "elisa", "display" : "Enzyme-Linked Immunosorbent Assays (ELISA)" }, { "code" : "fluorometry", "display" : "Fluorometry" }, { "code" : "fusion-genes-microarrays", "display" : "Fusion genes microarrays" }, { "code" : "g-banding", "display" : "G-banding" }, { "code" : "gc-ms", "display" : "Gas chromatography–mass spectrometry (GC-MS)" }, { "code" : "gene-expression-profiling", "display" : "Gene expression profiling" }, { "code" : "gene-id", "display" : "GeneID" }, { "code" : "gold-nanoparticle-probe-technology", "display" : "Gold nanoparticle probe technology" }, { "code" : "hplc", "display" : "High-performance liquid chromatography (HPLC)" }, { "code" : "lc-ms", "display" : "Liquid chromatography mass spectrometry (LC-MS)" }, { "code" : "lc-ms-ms", "display" : "Liquid chromatography-tandem mass spectrometry (LC-MS/MS)" }, { "code" : "metabolite-levels", "display" : "Metabolite levels" }, { "code" : "methylation-specific-pcr", "display" : "Methylation-specific PCR" }, { "code" : "microarray", "display" : "Microarray" }, { "code" : "mlpa", "display" : "Multiplex Ligation-dependent Probe Amplification (MLPA)" }, { "code" : "ngs-mps", "display" : "Next-Generation (NGS)/Massively parallel sequencing (MPS)" }, { "code" : "ola", "display" : "Oligonucleotide Ligation Assay (OLA)" }, { "code" : "oligonucleotide-hybridization-based-dna-sequencing", "display" : "Oligonucleotide hybridization-based DNA sequencing" }, { "code" : "other", "display" : "Other" }, { "code" : "pcr", "display" : "PCR" }, { "code" : "pcr-with-allele-specific-hybridization", "display" : "PCR with allele specific hybridization" }, { "code" : "pcr-rflp-with-southern-hybridization", "display" : "PCR-RFLP with Southern hybridization" }, { "code" : "protein-truncation-test", "display" : "Protein truncation test" }, { "code" : "pyrosequencing", "display" : "Pyrosequencing" }, { "code" : "q-banding", "display" : "Q-banding" }, { "code" : "qpcr", "display" : "Quantitative PCR (qPCR)" }, { "code" : "r-banding", "display" : "R-banding" }, { "code" : "rflp", "display" : "RFLP" }, { "code" : "rt-lamp", "display" : "RT-LAMP" }, { "code" : "rt-pcr", "display" : "RT-PCR" }, { "code" : "rt-pcr-with-gel-analysis", "display" : "RT-PCR with gel analysis" }, { "code" : "rt-qpcr", "display" : "RT-qPCR" }, { "code" : "snp-detection", "display" : "SNP Detection" }, { "code" : "silver-staining", "display" : "Silver staining" }, { "code" : "sky", "display" : "Spectral karyotyping (SKY)" }, { "code" : "t-banding", "display" : "T-banding" }, { "code" : "ms-ms", "display" : "Tandem mass spectrometry (MS/MS)" }, { "code" : "tetra-nucleotide-repeat-by-pcr-or-southern-blot", "display" : "Tetra-nucleotide repeat by PCR or Southern Blot" }, { "code" : "tiling-arrays", "display" : "Tiling Arrays" }, { "code" : "trinucleotide-repeat-by-pcr-or-southern-blot", "display" : "Trinucleotide repeat by PCR or Southern Blot" }, { "code" : "uni-directional-sanger-sequencing", "display" : "Uni-directional Sanger sequencing" }] }
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.