http://hl7.org/fhir/genomicstudy-methodtype|5.0.0
name
GenomicStudyMethodType
GenomicStudyMethodType
package
hl7.fhir.r5.core@5.0.0
hl7.fhir.r5.core@5.0.0
content
complete
complete
experimental
true
true
status
active
active
date
2022-08-16 21:49:24.0
2022-08-16 21:49:24.0
Genomic Study Method Type
The method type of the GenomicStudy analysis. These method types and relevant codes were pulled from [National Library of Medicine-Genetic Testing Registry](https://www.ncbi.nlm.nih.gov/gtr/) (NCBI-GTR) values of describing different testing methods on various levels: [major method category](https://ftp.ncbi.nlm.nih.gov/pub/GTR/standard_terms/Major_method_category.txt), [method category](https://ftp.ncbi.nlm.nih.gov/pub/GTR/standard_terms/Method_category.txt), and [primary methodology](https://ftp.ncbi.nlm.nih.gov/pub/GTR/standard_terms/Primary_test_methodology.txt)
| code | display | definition | hierarchy |
|---|---|---|---|
| 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 chromatography–mass 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 |