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This code system http://hl7.org/fhir/genomicstudy-methodtype defines the following codes:

Code | Display
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 chromatographyâ€“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

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Fluorescence in situ hybridization (FISH)

# concept[].display
Mutation scanning of the entire coding region

# concept[].display
Sequence analysis of the entire coding region

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Liquid chromatography mass spectrometry (LC-MS)

# concept[].display
Tetra-nucleotide repeat by PCR or Southern Blot

# concept[].display
Trinucleotide repeat by PCR or Southern Blot