Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot International flag

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 and changes regularly. See the Directory of published versions

CodeSystem: Genomic Study Method Type CodeSystem (Experimental)

Official URL: Version: 3.0.1-SNAPSHOT
Active as of 2024-07-15 Computable Name: GenomicStudyMethodTypeCS

Backport of

This Code system is referenced in the content logical definition of the following value sets:

Generated Narrative: CodeSystem genomic-study-method-type-cs

This case-sensitive code system defines the following codes:

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