Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT 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: 3.0.1-SNAPSHOT | |||
Active as of 2024-10-29 | 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 v3.0.1-SNAPSHOT (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 |