GenomicStudyMethodTypeCS
Genomic Study Method Type CodeSystem
activeGenomics Reporting3.0.0complete81 concepts
Backport of http://hl7.org/fhir/genomicstudy-methodtype
Metadata
hl7.org/fhir- Canonical URL
- http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs
- ID
- genomic-study-method-type-cs
- Version
- 3.0.0
- Publisher
- HL7 International / Clinical Genomics
- Case Sensitive
- Yes
Concepts (81)
| Code | Display | Definition |
|---|---|---|
biochemical-genetics | Biochemical Genetics | - |
cytogenetics | Cytogenetics | - |
molecular-genetics | Molecular Genetics | - |
analyte | Analyte | - |
chromosome-breakage-studies | Chromosome breakage studies | - |
deletion-duplication-analysis | Deletion/duplication analysis | - |
detection-of-homozygosity | Detection of homozygosity | - |
enzyme-assay | Enzyme assay | - |
fish-interphase | FISH-interphase | - |
fish-metaphase | FISH-metaphase | - |
flow-cytometry | Flow cytometry | - |
fish | Fluorescence in situ hybridization (FISH) | - |
immunohistochemistry | Immunohistochemistry | - |
karyotyping | Karyotyping | - |
linkage-analysis | Linkage analysis | - |
methylation-analysis | Methylation analysis | - |
msi | Microsatellite instability testing (MSI) | - |
m-fish | Multicolor FISH (M-FISH) | - |
mutation-scanning-of-select-exons | Mutation scanning of select exons | - |
mutation-scanning-of-the-entire-coding-region | Mutation scanning of the entire coding region | - |
protein-analysis | Protein analysis | - |
protein-expression | Protein expression | - |
rna-analysis | RNA analysis | - |
sequence-analysis-of-select-exons | Sequence analysis of select exons | - |
sequence-analysis-of-the-entire-coding-region | Sequence analysis of the entire coding region | - |
sister-chromatid-exchange | Sister chromatid exchange | - |
targeted-variant-analysis | Targeted variant analysis | - |
udp | Uniparental disomy study (UPD) | - |
aspe | Allele-specific primer extension (ASPE) | - |
alternative-splicing-detection | Alternative splicing detection | - |
bi-directional-sanger-sequence-analysis | Bi-directional Sanger Sequence Analysis | - |
c-banding | C-banding | - |
cia | Chemiluminescent Immunoassay (CIA) | - |
chromatin-immunoprecipitation-on-chip | Chromatin Immunoprecipitation on ChIP | - |
comparative-genomic-hybridization | Comparative Genomic Hybridization | - |
damid | DamID | - |
digital-virtual-karyotyping | Digital / Virtual karyotyping | - |
digital-microfluidic-microspheres | Digital microfluidic microspheres | - |
enzymatic-levels | Enzymatic levels | - |
enzyme-activity | Enzyme activity | - |
elisa | Enzyme-Linked Immunosorbent Assays (ELISA) | - |
fluorometry | Fluorometry | - |
fusion-genes-microarrays | Fusion genes microarrays | - |
g-banding | G-banding | - |
gc-ms | Gas chromatographymass spectrometry (GC-MS) | - |
gene-expression-profiling | Gene expression profiling | - |
gene-id | GeneID | - |
gold-nanoparticle-probe-technology | Gold nanoparticle probe technology | - |
hplc | High-performance liquid chromatography (HPLC) | - |
lc-ms | Liquid chromatography mass spectrometry (LC-MS) | - |
lc-ms-ms | Liquid chromatography-tandem mass spectrometry (LC-MS/MS) | - |
metabolite-levels | Metabolite levels | - |
methylation-specific-pcr | Methylation-specific PCR | - |
microarray | Microarray | - |
mlpa | Multiplex Ligation-dependent Probe Amplification (MLPA) | - |
ngs-mps | Next-Generation (NGS)/Massively parallel sequencing (MPS) | - |
ola | Oligonucleotide Ligation Assay (OLA) | - |
oligonucleotide-hybridization-based-dna-sequencing | Oligonucleotide hybridization-based DNA sequencing | - |
other | Other | - |
pcr | PCR | - |
pcr-with-allele-specific-hybridization | PCR with allele specific hybridization | - |
pcr-rflp-with-southern-hybridization | PCR-RFLP with Southern hybridization | - |
protein-truncation-test | Protein truncation test | - |
pyrosequencing | Pyrosequencing | - |
q-banding | Q-banding | - |
qpcr | Quantitative PCR (qPCR) | - |
r-banding | R-banding | - |
rflp | RFLP | - |
rt-lamp | RT-LAMP | - |
rt-pcr | RT-PCR | - |
rt-pcr-with-gel-analysis | RT-PCR with gel analysis | - |
rt-qpcr | RT-qPCR | - |
snp-detection | SNP Detection | - |
silver-staining | Silver staining | - |
sky | Spectral karyotyping (SKY) | - |
t-banding | T-banding | - |
ms-ms | Tandem mass spectrometry (MS/MS) | - |
tetra-nucleotide-repeat-by-pcr-or-southern-blot | Tetra-nucleotide repeat by PCR or Southern Blot | - |
tiling-arrays | Tiling Arrays | - |
trinucleotide-repeat-by-pcr-or-southern-blot | Trinucleotide repeat by PCR or Southern Blot | - |
uni-directional-sanger-sequencing | Uni-directional Sanger sequencing | - |