{
  "description": "Backport of http://hl7.org/fhir/genomicstudy-methodtype",
  "_filename": "CodeSystem-genomic-study-method-type-cs.json",
  "package_name": "hl7.fhir.uv.genomics-reporting",
  "date": "2024-12-12T20:43:36+00:00",
  "publisher": "HL7 International / Clinical Genomics",
  "jurisdiction": [ {
    "coding": [ {
      "code": "001",
      "system": "http://unstats.un.org/unsd/methods/m49/m49.htm",
      "display": "World"
    } ]
  } ],
  "content": "complete",
  "name": "GenomicStudyMethodTypeCS",
  "type": null,
  "experimental": "true",
  "resourceType": "CodeSystem",
  "title": "Genomic Study Method Type CodeSystem",
  "package_version": "3.0.0",
  "extension": [ {
    "url": "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg",
    "valueCode": "cg"
  } ],
  "status": "active",
  "id": "ff5254ed-b590-43f2-9418-1ffac4da7977",
  "kind": null,
  "count": 81,
  "url": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs",
  "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 chromatographymass 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": "3.0.0",
  "contact": [ {
    "name": "HL7 International / Clinical Genomics",
    "telecom": [ {
      "value": "http://www.hl7.org/Special/committees/clingenomics",
      "system": "url"
    }, {
      "value": "cg@lists.HL7.org",
      "system": "email"
    } ]
  } ]
}