GenomicStudyMethodType

Genomic Study Method Type

activeExperimentalcomplete81 conceptsv5.0.0

The method type of the GenomicStudy analysis. These method types and relevant codes were pulled from National Library of Medicine-Genetic Testing Registry (NCBI-GTR) values of describing different testing methods on various levels: major method category, method category, and primary methodology

Metadata

hl7.org/fhir
Canonical URL
http://hl7.org/fhir/genomicstudy-methodtype
All-Codes Value Set
http://hl7.org/fhir/ValueSet/genomicstudy-methodtype
ID
genomicstudy-methodtype
Version
5.0.0
Publisher
HL7 (FHIR Project)
Case Sensitive
Yes
In the unified registry

Concepts (81)

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