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.