Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-ballot built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions
| Official URL: http://hl7.org/fhir/uv/genomics-reporting/ValueSet/genomic-study-method-type-vs | Version: 4.0.0-ballot | |||
| Standards status: Trial-use | Maturity Level: 2 | Computable Name: GenomicStudyMethodTypeVS | ||
Backport of http://hl7.org/fhir/ValueSet/genomicstudy-methodtype
References
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs
Expansion performed internally based on codesystem Genomic Study Method Type CodeSystem v4.0.0-ballot (CodeSystem)
This value set contains 81 concepts
| Code | System | Display | Definition |
| biochemical-genetics | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Biochemical Genetics | Biochemical Genetics |
| cytogenetics | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Cytogenetics | Cytogenetics |
| molecular-genetics | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Molecular Genetics | Molecular Genetics |
| analyte | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Analyte | Analyte |
| chromosome-breakage-studies | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Chromosome breakage studies | Chromosome breakage studies |
| deletion-duplication-analysis | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Deletion/duplication analysis | Deletion/duplication analysis |
| detection-of-homozygosity | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Detection of homozygosity | Detection of homozygosity |
| enzyme-assay | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Enzyme assay | Enzyme assay |
| fish-interphase | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | FISH-interphase | FISH-interphase |
| fish-metaphase | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | FISH-metaphase | FISH-metaphase |
| flow-cytometry | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Flow cytometry | Flow cytometry |
| fish | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Fluorescence in situ hybridization (FISH) | Fluorescence in situ hybridization (FISH) |
| immunohistochemistry | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Immunohistochemistry | Immunohistochemistry |
| karyotyping | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Karyotyping | Karyotyping |
| linkage-analysis | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Linkage analysis | Linkage analysis |
| methylation-analysis | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Methylation analysis | Methylation analysis |
| msi | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Microsatellite instability testing (MSI) | Microsatellite instability testing (MSI) |
| m-fish | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Multicolor FISH (M-FISH) | Multicolor FISH (M-FISH) |
| mutation-scanning-of-select-exons | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Mutation scanning of select exons | Mutation scanning of select exons |
| mutation-scanning-of-the-entire-coding-region | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Mutation scanning of the entire coding region | Mutation scanning of the entire coding region |
| protein-analysis | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Protein analysis | Protein analysis |
| protein-expression | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Protein expression | Protein expression |
| rna-analysis | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | RNA analysis | RNA analysis |
| sequence-analysis-of-select-exons | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Sequence analysis of select exons | Sequence analysis of select exons |
| sequence-analysis-of-the-entire-coding-region | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Sequence analysis of the entire coding region | Sequence analysis of the entire coding region |
| sister-chromatid-exchange | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Sister chromatid exchange | Sister chromatid exchange |
| targeted-variant-analysis | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Targeted variant analysis | Targeted variant analysis |
| udp | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Uniparental disomy study (UPD) | Uniparental disomy study (UPD) |
| aspe | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Allele-specific primer extension (ASPE) | Allele-specific primer extension (ASPE) |
| alternative-splicing-detection | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Alternative splicing detection | Alternative splicing detection |
| bi-directional-sanger-sequence-analysis | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Bi-directional Sanger Sequence Analysis | Bi-directional Sanger Sequence Analysis |
| c-banding | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | C-banding | C-banding |
| cia | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Chemiluminescent Immunoassay (CIA) | Chemiluminescent Immunoassay (CIA) |
| chromatin-immunoprecipitation-on-chip | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Chromatin Immunoprecipitation on ChIP | Chromatin Immunoprecipitation on ChIP |
| comparative-genomic-hybridization | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Comparative Genomic Hybridization | Comparative Genomic Hybridization |
| damid | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | DamID | DamID |
| digital-virtual-karyotyping | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Digital / Virtual karyotyping | Digital / Virtual karyotyping |
| digital-microfluidic-microspheres | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Digital microfluidic microspheres | Digital microfluidic microspheres |
| enzymatic-levels | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Enzymatic levels | Enzymatic levels |
| enzyme-activity | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Enzyme activity | Enzyme activity |
| elisa | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Enzyme-Linked Immunosorbent Assays (ELISA) | Enzyme-Linked Immunosorbent Assays (ELISA) |
| fluorometry | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Fluorometry | Fluorometry |
| fusion-genes-microarrays | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Fusion genes microarrays | Fusion genes microarrays |
| g-banding | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | G-banding | G-banding |
| gc-ms | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Gas chromatographymass spectrometry (GC-MS) | Gas chromatographymass spectrometry (GC-MS) |
| gene-expression-profiling | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Gene expression profiling | Gene expression profiling |
| gene-id | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | GeneID | GeneID |
| gold-nanoparticle-probe-technology | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Gold nanoparticle probe technology | Gold nanoparticle probe technology |
| hplc | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | High-performance liquid chromatography (HPLC) | High-performance liquid chromatography (HPLC) |
| lc-ms | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Liquid chromatography mass spectrometry (LC-MS) | Liquid chromatography mass spectrometry (LC-MS) |
| lc-ms-ms | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Liquid chromatography-tandem mass spectrometry (LC-MS/MS) | Liquid chromatography-tandem mass spectrometry (LC-MS/MS) |
| metabolite-levels | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Metabolite levels | Metabolite levels |
| methylation-specific-pcr | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Methylation-specific PCR | Methylation-specific PCR |
| microarray | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Microarray | Microarray |
| mlpa | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Multiplex Ligation-dependent Probe Amplification (MLPA) | Multiplex Ligation-dependent Probe Amplification (MLPA) |
| ngs-mps | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Next-Generation (NGS)/Massively parallel sequencing (MPS) | Next-Generation (NGS)/Massively parallel sequencing (MPS) |
| ola | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Oligonucleotide Ligation Assay (OLA) | Oligonucleotide Ligation Assay (OLA) |
| oligonucleotide-hybridization-based-dna-sequencing | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Oligonucleotide hybridization-based DNA sequencing | Oligonucleotide hybridization-based DNA sequencing |
| other | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Other | Other |
| pcr | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | PCR | PCR |
| pcr-with-allele-specific-hybridization | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | PCR with allele specific hybridization | PCR with allele specific hybridization |
| pcr-rflp-with-southern-hybridization | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | PCR-RFLP with Southern hybridization | PCR-RFLP with Southern hybridization |
| protein-truncation-test | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Protein truncation test | Protein truncation test |
| pyrosequencing | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Pyrosequencing | Pyrosequencing |
| q-banding | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Q-banding | Q-banding |
| qpcr | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Quantitative PCR (qPCR) | Quantitative PCR (qPCR) |
| r-banding | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | R-banding | R-banding |
| rflp | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | RFLP | RFLP |
| rt-lamp | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | RT-LAMP | RT-LAMP |
| rt-pcr | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | RT-PCR | RT-PCR |
| rt-pcr-with-gel-analysis | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | RT-PCR with gel analysis | RT-PCR with gel analysis |
| rt-qpcr | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | RT-qPCR | RT-qPCR |
| snp-detection | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | SNP Detection | SNP Detection |
| silver-staining | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Silver staining | Silver staining |
| sky | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Spectral karyotyping (SKY) | Spectral karyotyping (SKY) |
| t-banding | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | T-banding | T-banding |
| ms-ms | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Tandem mass spectrometry (MS/MS) | Tandem mass spectrometry (MS/MS) |
| tetra-nucleotide-repeat-by-pcr-or-southern-blot | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Tetra-nucleotide repeat by PCR or Southern Blot | Tetra-nucleotide repeat by PCR or Southern Blot |
| tiling-arrays | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Tiling Arrays | Tiling Arrays |
| trinucleotide-repeat-by-pcr-or-southern-blot | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Trinucleotide repeat by PCR or Southern Blot | Trinucleotide repeat by PCR or Southern Blot |
| uni-directional-sanger-sequencing | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Uni-directional Sanger sequencing | Uni-directional Sanger sequencing |
Explanation of the columns that may appear on this page:
| Level | A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies |
| System | The source of the definition of the code (when the value set draws in codes defined elsewhere) |
| Code | The code (used as the code in the resource instance) |
| Display | The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application |
| Definition | An explanation of the meaning of the concept |
| Comments | Additional notes about how to use the code |