{
"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)",
"_filename": "CodeSystem-genomicstudy-methodtype.json",
"package_name": "hl7.fhir.r6.core",
"date": "2022-08-16T16:49:24-05:00",
"meta": {
"profile": [ "http://hl7.org/fhir/StructureDefinition/shareablecodesystem" ],
"lastUpdated": "2024-08-12T03:52:12-05:00"
},
"publisher": "HL7 (FHIR Project)",
"jurisdiction": [ {
"coding": [ {
"code": "001",
"system": "http://unstats.un.org/unsd/methods/m49/m49.htm",
"display": "World"
} ]
} ],
"content": "complete",
"name": "GenomicStudyMethodType",
"type": null,
"experimental": "true",
"resourceType": "CodeSystem",
"title": "Genomic Study Method Type",
"package_version": "6.0.0-ballot2",
"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": 1
} ],
"status": "active",
"id": "a5cd084a-eca4-4c00-b7dd-0e1645323ba9",
"valueSet": "http://hl7.org/fhir/ValueSet/genomicstudy-methodtype",
"kind": null,
"url": "http://hl7.org/fhir/genomicstudy-methodtype",
"identifier": [ {
"value": "urn:oid:2.16.840.1.113883.4.642.4.1979",
"system": "urn:ietf:rfc:3986"
} ],
"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"
} ],
"caseSensitive": true,
"version": "6.0.0-ballot2",
"contact": [ {
"telecom": [ {
"value": "http://hl7.org/fhir",
"system": "url"
}, {
"value": "fhir@lists.hl7.org",
"system": "email"
} ]
} ]
}