This page is part of the Genetic Reporting Implementation Guide (v3.0.0: STU3) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions
| Official URL: http://hl7.org/fhir/uv/genomics-reporting/ValueSet/genomic-study-method-type-vs | Version: 3.0.0 | |||
| Active as of 2024-12-12 | Computable Name: GenomicStudyMethodTypeVS | |||
Backport of http://hl7.org/fhir/ValueSet/genomicstudy-methodtype
References
Generated Narrative: ValueSet genomic-study-method-type-vs
http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs
Generated Narrative: ValueSet
Expansion based on codesystem Genomic Study Method Type CodeSystem v3.0.0 (CodeSystem)
This value set contains 81 concepts
| Code | System | Display | 
| biochemical-genetics | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Biochemical Genetics | 
| cytogenetics | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Cytogenetics | 
| molecular-genetics | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Molecular Genetics | 
| analyte | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Analyte | 
| chromosome-breakage-studies | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Chromosome breakage studies | 
| deletion-duplication-analysis | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Deletion/duplication analysis | 
| detection-of-homozygosity | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Detection of homozygosity | 
| enzyme-assay | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Enzyme assay | 
| fish-interphase | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | FISH-interphase | 
| fish-metaphase | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | FISH-metaphase | 
| flow-cytometry | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Flow cytometry | 
| fish | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Fluorescence in situ hybridization (FISH) | 
| immunohistochemistry | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Immunohistochemistry | 
| karyotyping | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Karyotyping | 
| linkage-analysis | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Linkage analysis | 
| methylation-analysis | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Methylation analysis | 
| msi | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Microsatellite instability testing (MSI) | 
| m-fish | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | 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-the-entire-coding-region | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | 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-expression | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Protein expression | 
| rna-analysis | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | 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-the-entire-coding-region | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | 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 | 
| targeted-variant-analysis | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Targeted variant analysis | 
| udp | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Uniparental disomy study (UPD) | 
| aspe | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Allele-specific primer extension (ASPE) | 
| alternative-splicing-detection | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | 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 | 
| c-banding | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | C-banding | 
| cia | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Chemiluminescent Immunoassay (CIA) | 
| chromatin-immunoprecipitation-on-chip | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Chromatin Immunoprecipitation on ChIP | 
| comparative-genomic-hybridization | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Comparative Genomic Hybridization | 
| damid | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | DamID | 
| digital-virtual-karyotyping | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Digital / Virtual karyotyping | 
| digital-microfluidic-microspheres | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Digital microfluidic microspheres | 
| enzymatic-levels | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Enzymatic levels | 
| enzyme-activity | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Enzyme activity | 
| elisa | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Enzyme-Linked Immunosorbent Assays (ELISA) | 
| fluorometry | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Fluorometry | 
| fusion-genes-microarrays | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Fusion genes microarrays | 
| g-banding | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | G-banding | 
| gc-ms | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | 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-id | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | GeneID | 
| gold-nanoparticle-probe-technology | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Gold nanoparticle probe technology | 
| hplc | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | 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) | 
| lc-ms-ms | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | 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 | 
| methylation-specific-pcr | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Methylation-specific PCR | 
| microarray | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Microarray | 
| mlpa | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | 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) | 
| ola | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | 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 | 
| other | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Other | 
| pcr | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | 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-rflp-with-southern-hybridization | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | PCR-RFLP with Southern hybridization | 
| protein-truncation-test | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Protein truncation test | 
| pyrosequencing | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Pyrosequencing | 
| q-banding | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Q-banding | 
| qpcr | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Quantitative PCR (qPCR) | 
| r-banding | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | R-banding | 
| rflp | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | RFLP | 
| rt-lamp | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | RT-LAMP | 
| rt-pcr | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | 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-qpcr | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | RT-qPCR | 
| snp-detection | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | SNP Detection | 
| silver-staining | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Silver staining | 
| sky | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | Spectral karyotyping (SKY) | 
| t-banding | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | T-banding | 
| ms-ms | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | 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 | 
| tiling-arrays | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | 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 | 
| uni-directional-sanger-sequencing | http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs | 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 |