臺灣健保署基礎實作指引
0.0.1 - ci-build

臺灣健保署基礎實作指引, published by 衛生福利部中央健康保險署. This guide is not an authorized publication; it is the continuous build for version 0.0.1 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/TWNHIFHIR/base/ and changes regularly. See the Directory of published versions

## ValueSet: LOINC-健保署-基因檢測代碼值集

Official URL: https://nhicore.nhi.gov.tw/base/ValueSet/gene-test-code | Version: 0.0.1
Draft as of 2025-10-01 | Computable Name: GeneTestCode

LOINC-健保署-基因檢測代碼值集

References

- 基因資訊-Observation Diagnostic TWNHIBASE

### Logical Definition (CLD)

- Include these codes as defined in `http://loinc.org` version Not Stated (use latest from terminology server)

  Code | Display
  99965-6 | ASXL1 gene exon 13 full mutation analysis in Blood or Tissue by Sequencing
  21795-0 | t(9;22)(q34.1;q11)(ABL1,BCR) cells/Cells.total in Blood or Tissue by Molecular genetics method
  21821-4 | t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method
  21822-2 | t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript major break points [Presence] in Blood or Tissue by Molecular genetics method
  21823-0 | t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript minor break points [Presence] in Blood or Tissue by Molecular genetics method
  42714-6 | t(9;22)(q34.1;q11)(ABL1,BCR) b2a2+b3a2 fusion transcript [Presence] in Blood or Tissue by Molecular genetics method
  46434-7 | t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method
  49490-6 | BCR-ABL1 b2a2 fusion protein [Presence] in Blood or Tissue by Molecular genetics method
  49491-4 | BCR-ABL1 b3a2 fusion protein [Presence] in Blood or Tissue by Molecular genetics method
  49496-3 | BCR-ABL1 e1a1 fusion protein [Presence] in Blood or Tissue by Molecular genetics method
  49795-8 | t(9;22)(q34.1;q11)(ABL1,BCR) e1a2 fusion transcript [Presence] in Blood or Tissue by Molecular genetics method
  49796-6 | t(9;22)(q34.1;q11)(ABL1,BCR) b2a2+b3a2 fusion transcript [#/volume] in Blood or Tissue by Molecular genetics method
  49797-4 | t(9;22)(q34.1;q11)(ABL1,BCR) b2a2+b3a2 fusion transcript [Presence] in Bone marrow by Molecular genetics method
  50014-0 | t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript in Blood or Tissue by Molecular genetics method
  50195-7 | t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript/control transcript [Log Number Ratio] in Blood or Tissue by Molecular genetics method
  51867-0 | t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript in Blood or Tissue by FISH
  52130-2 | t(9;22)(q34.1;q11)(ABL1,BCR) b2a2 fusion transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method
  52131-0 | t(9;22)(q34.1;q11)(ABL1,BCR) b3a2 fusion transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method
  52132-8 | t(9;22)(q34.1;q11)(ABL1,BCR) e1a2 fusion transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method
  52135-1 | t(9;22)(q34.1;q11)(ABL1,BCR) transcript detection panel - Blood or Tissue by Molecular genetics method
  54926-1 | t(9;22)(q34.1;q11)(ABL1,BCR) e19a2 fusion transcript [#/volume] in Blood or Tissue by Molecular genetics method
  55135-8 | BCR-ABL1 kinase domain mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  55147-3 | t(9;22)(q34.1;q11)(ABL1,BCR) b2a2+b3a2 fusion transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method
  60588-1 | t(15;17)(q24.1;q21.1)(PML,RARA) bcr2 fusion transcript [Presence] in Blood or Tissue by Molecular genetics method
  60589-9 | t(15;17)(q24.1;q21.1)(PML,RARA) bcr1 fusion transcript [Presence] in Blood or Tissue by Molecular genetics method
  63422-0 | t(9;22)(q34.1;q11)(ABL1,BCR) b2a2+b3a2+e1a2 fusion transcript [Presence] in Blood or Tissue by Molecular genetics method
  69380-4 | t(9;22)(q34.1;q11)(ABL1,BCR) b2a2+b3a2 fusion transcript/control transcript (International Scale) [# Ratio] in Blood or Tissue by Molecular genetics method
  69381-2 | t(9;22)(q34.1;q11)(ABL1,BCR) b2a2 fusion transcript/control transcript (International Scale) in Blood or Tissue by Molecular genetics method
  69382-0 | t(9;22)(q34.1;q11)(ABL1,BCR) b3a2 fusion transcript/control transcript (International Scale) in Blood or Tissue by Molecular genetics method
  69963-7 | t(9;22)(q34.1;q11)(ABL1,BCR) e1a2 fusion transcript/control transcript [# Ratio] in Bone marrow by Molecular genetics method
  72211-6 | t(15;17)(q24.1;q21.1)(PML,RARA) bcr2 fusion transcript/control transcript [# Ratio] in Bone marrow by Molecular genetics method
  72212-4 | t(15;17)(q24.1;q21.1)(PML,RARA) bcr1 fusion transcript/control transcript [# Ratio] in Bone marrow by Molecular genetics method
  72213-2 | t(15;17)(q24.1;q21.1)(PML,RARA) bcr3 fusion transcript/control transcript [# Ratio] in Bone marrow by Molecular genetics method
  72214-0 | t(15;17)(q24.1;q21.1)(PML,RARA) bcr3 fusion transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method
  72215-7 | t(15;17)(q24.1;q21.1)(PML,RARA) bcr2 fusion transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method
  72216-5 | t(15;17)(q24.1;q21.1)(PML,RARA) bcr1 fusion transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method
  74041-5 | BCR-ABL1 p210 Major Molecular Response (MMR) [Presence] in Blood or Tissue by Molecular genetics method --post treatment
  75015-8 | t(9;22)(q34.1;q11)(ABL1,BCR) b2a2 fusion transcript [Presence] in Blood or Tissue by Molecular genetics method
  75016-6 | t(9;22)(q34.1;q11)(ABL1,BCR) b3a2 fusion transcript [Presence] in Bone marrow by Molecular genetics method
  75017-4 | t(9;22)(q34.1;q11)(ABL1,BCR) e19a2 fusion transcript [Presence] in Bone marrow by Molecular genetics method
  75018-2 | t(9;22)(q34.1;q11)(ABL1,BCR) e19a2 fusion transcript [Presence] in Blood or Tissue by Molecular genetics method
  75019-0 | t(9;22)(q34.1;q11)(ABL1,BCR) e1a2 fusion transcript [Presence] in Bone marrow by Molecular genetics method
  75020-8 | t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript in Bone marrow by Molecular genetics method
  75892-0 | t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript break points [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  82904-4 | t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript [Presence] in Bone marrow by Molecular genetics method
  82905-1 | t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript/control transcript [Log Number Ratio] in Bone marrow by Molecular genetics method
  21746-3 | BCL6 gene rearrangements [Presence] in Blood or Tissue by Molecular genetics method
  78203-7 | BCL6 gene rearrangements [Presence] in Blood or Tissue by FISH
  78208-6 | BCL6 gene rearrangements [Interpretation] in Blood or Tissue by FISH Narrative
  78213-6 | Cells.BCL6 gene rearrangements/Cells counted in Blood or Tissue by FISH
  35474-6 | Gene XXX targeted mutation analysis in Blood or Tissue by Molecular genetics method
  62203-5 | t(10;11)(p12;q23)(MLLT10,MLL) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method
  101377-0 | inv(16)(p13.1;q22.1)(MYH11,CBFB) fusion transcript in Blood or Marrow by Molecular genetics method
  70156-5 | inv(16)(p13.1;q22.1)(MYH11,CBFB) fusion transcript/control transcript [Log Number Ratio] in Blood or Tissue
  70291-0 | inv(16)(p13.1;q22.1)(MYH11,CBFB) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method
  72209-0 | inv(16)(p13.1;q22.1)(MYH11,CBFB) fusion transcript/control transcript [# Ratio] in Bone marrow by Molecular genetics method
  72210-8 | inv(16)(p13.1;q22.1)(MYH11,CBFB) fusion transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method
  75010-9 | inv(16)(p13.1;q22.1)(MYH11,CBFB) fusion transcript [Presence] in Bone marrow by Molecular genetics method
  77034-7 | inv(16)(p13.1;q22.1)(MYH11,CBFB) fusion transcript in Blood or Tissue by FISH
  64012-8 | CEBPA gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  75009-1 | CEBPA gene full mutation analysis in Blood or Tissue by Sequencing
  75032-3 | CEBPA gene full mutation analysis in Bone marrow by Sequencing
  21791-9 | t(6;9)(p22;q34)(DEK,NUP214) cells/Cells.total in Blood or Tissue by Molecular genetics method
  21817-2 | t(6;9)(p22;q34)(DEK,NUP214) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method
  70281-1 | t(9;9)(q34;q34)(NUP214,SET) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method
  77042-0 | t(6;9)(p22;q34)(DEK,NUP214) fusion transcript in Blood or Tissue by FISH
  21782-8 | t(12;21)(p13;q22.3)(ETV6,RUNX1) cells/Cells.total in Blood or Tissue by Molecular genetics method
  21806-5 | t(12;21)(p13;q22.3)(ETV6,RUNX1) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method
  48821-3 | t(12;21)(p13;q22.3)(ETV6,RUNX1) fusion transcript [Presence] in Bone marrow by Molecular genetics method
  72217-3 | t(12;21)(p13;q22.3)(ETV6,RUNX1) fusion transcript/control transcript [# Ratio] in Bone marrow by Molecular genetics method
  72218-1 | t(12;21)(p13;q22.3)(ETV6,RUNX1) fusion transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method
  77039-6 | t(12;21)(p13;q22.3)(ETV6,RUNX1) fusion transcript in Blood or Tissue by FISH
  101380-4 | ETV6 gene rearrangements in Tissue by FISH
  21790-1 | t(5;12)(q33.1;p13)(PDGFRB,ETV6) cells/Cells.total in Blood or Tissue by Molecular genetics method
  21816-4 | t(5;12)(q33.1;p13)(PDGFRB,ETV6) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method
  70282-9 | t(9;12)(q34.1;p13)(ABL1,ETV6) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method
  70286-0 | t(12;22)(p13;q12.1)(ETV6,MN1) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method
  75014-1 | t(9;12)(q34.1;p13)(ABL1,ETV6) fusion transcript [Presence] in Bone marrow by Molecular genetics method
  95783-7 | ETV6 gene rearrangements in Blood or Marrow by FISH
  96964-2 | EZH2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  72520-0 | FLT3 gene.p.Asp835+Ile836 mutations [Presence] in Blood or Tissue by Molecular genetics method
  79210-1 | FLT3 gene internal tandem duplication [Presence] in Blood or Tissue by Molecular genetics method
  85100-6 | FLT3 gene internal tandem duplication [Presence] in Bone marrow by Molecular genetics method
  92843-2 | FLT3 gene p.Asp835 mutations [Presence] in Blood or Tissue by Molecular genetics method
  92844-0 | FLT3 gene internal tandem duplication/Normal [Ratio] in Blood or Tissue by Molecular genetics method
  98489-8 | FLT3 gene internal tandem duplication length [#] in Blood or Tissue by Molecular genetics method
  98490-6 | FLT3 gene.p.Asp835+Ile836 mutations/Normal in Blood or Tissue by Molecular genetics method
  70288-6 | t(17;19)(q22;p13.3)(HLF,TCF3) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method
  75397-0 | HNF1A gene full mutation analysis in Blood or Tissue by Sequencing
  21793-5 | t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) cells/Cells.total in Blood or Tissue by Molecular genetics method
  21819-8 | t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method
  70278-7 | t(3;21)(q26;q22.3)(MECOM,RUNX1) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method
  72207-4 | t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) fusion transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method
  72208-2 | t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) fusion transcript/control transcript [# Ratio] in Bone marrow by Molecular genetics method
  75013-3 | t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) fusion transcript [Presence] in Bone marrow by Molecular genetics method
  77040-4 | t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) fusion transcript in Blood or Tissue by FISH
  100019-9 | ALK gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  21787-7 | t(2;5)(p23;q35.1)(ALK,NPM1) cells/Cells.total in Blood or Tissue by Molecular genetics method
  21813-1 | t(2;5)(p23;q35.1)(ALK,NPM1) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method
  78205-2 | ALK gene rearrangements [Presence] in Blood or Tissue by FISH
  78210-2 | ALK gene rearrangements [Interpretation] in Blood or Tissue by FISH Narrative
  78233-4 | Cells.ALK gene rearrangements/Cells counted in Blood or Tissue by FISH
  79206-9 | inv(2)(p21;p23)(EML4,ALK) fusion transcript [Presence] in Blood or Tissue by FISH
  88744-8 | inv(2)(p21;p23)(EML4,ALK) fusion transcript [Presence] in Tissue by Molecular genetics method
  90305-4 | t(2;5)(p23;q35.1)(ALK,NPM1) fusion transcript in Blood or Tissue by Molecular genetics method
  53844-7 | BRAF gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
  58415-1 | BRAF gene p.Val600Glu [Presence] in Tissue by Molecular genetics method
  58483-9 | BRAF gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  83061-2 | BRAF gene [VCF] in Cancer specimen by Sequencing
  85101-4 | BRAF gene p.Val600Glu [Presence] in Bone marrow by Molecular genetics method
  85511-4 | BRAF gene mutations found [Identifier] in Colorectal cancer specimen by Molecular genetics method Nominal
  89861-9 | BRAF gene p.Val600Lys [Presence] in Tissue by Molecular genetics method
  93690-6 | BRAF gene V600 mutations [Identifier] in Plasma cell-free DNA by Molecular genetics method Nominal
  97025-1 | BRAF gene V600 mutations [Identifier] in Tissue by Molecular genetics method Nominal
  21636-6 | BRCA1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  21637-4 | BRCA1 gene.c.185 del AG [presence] in Blood or Tissue by Molecular genetics method
  21638-2 | BRCA1 gene c.5382insC [Presence] in Blood or Tissue by Molecular genetics method
  21639-0 | BRCA1 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
  21640-8 | BRCA2 gene c.6174delT [Presence] in Blood or Tissue by Molecular genetics method
  38530-2 | BRCA2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  38531-0 | BRCA2 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
  50995-0 | BRCA1+BRCA2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
  59041-4 | BRCA1+BRCA2 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
  79207-7 | BRCA1 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method
  79208-5 | BRCA2 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method
  94191-4 | BRCA1+BRCA2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
  21665-5 | EGFR gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  21666-3 | EGFR gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
  55764-5 | EGFR gene exon 19 deletion [Presence] in Blood or Tissue by Molecular genetics method
  55765-2 | EGFR gene c.2156G>C+2155G>A+2155G>T [Presence] in Blood or Tissue by Molecular genetics method
  55766-0 | EGFR gene c.2573T>G [Presence] in Blood or Tissue by Molecular genetics method
  55767-8 | EGFR gene c.2582T>A [Presence] in Blood or Tissue by Molecular genetics method
  55768-6 | EGFR gene c.2303G>T [Presence] in Blood or Tissue by Molecular genetics method
  55769-4 | EGFR gene c.2369C>T [Presence] in Blood or Tissue by Molecular genetics method
  55770-2 | EGFR gene exon 20 insertion [Presence] in Blood or Tissue by Molecular genetics method
  85383-8 | EGFR gene c.2369C>T actual/normal in Plasma cell-free DNA by Molecular genetics method
  31150-6 | ERBB2 gene duplication [Presence] in Tissue by FISH
  42783-1 | ERBB2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  49683-6 | ERBB2 gene copy number/Chromosome 17 copy number in Tissue by FISH
  74860-8 | ERBB2 gene copy number/nucleus in Tissue by FISH
  85318-4 | ERBB2 gene duplication [Presence] in Breast cancer specimen by FISH
  96893-3 | ERBB2 gene duplication in Tumor by FISH
  21674-7 | FGFR2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  21675-4 | FGFR2 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
  21676-2 | FGFR3 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  21677-0 | FGFR3 gene p.Gly375Cys [Presence] in Blood or Tissue by Molecular genetics method
  21678-8 | FGFR3 gene p.Gly380Arg [Presence] in Blood or Tissue by Molecular genetics method
  21679-6 | FGFR3 gene p.Lys650Glu [Presence] in Blood or Tissue by Molecular genetics method
  22074-9 | FGFR3 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
  38412-3 | FGFR2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
  38413-1 | FGFR3 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
  42785-6 | FGFR1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  48972-4 | FGFR2 gene+FGFR3 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  72726-3 | t(4;14)(p16;q32)(FGFR3,IGH) fusion transcript [Identifier] in Blood or Tissue by FISH Nominal
  75391-3 | FGFR3 gene targeted mutation analysis in Amniotic fluid or Chorionic villus sample by Molecular genetics method
  78915-6 | FGFR1 gene rearrangements [Presence] in Blood or Tissue by FISH
  78916-4 | FGFR1 gene rearrangements [Interpretation] in Blood or Tissue by FISH Narrative
  78917-2 | Cells.FGFR1 gene rearrangements/Cells counted in Blood or Tissue by FISH
  82137-1 | FGFR3 gene p.Gly380Arg targeted mutation analysis in Amniotic fluid or Chorionic villus sample by Molecular genetics method
  95784-5 | FGFR2 gene rearrangements in Tissue by FISH
  100022-3 | IDH1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  100023-1 | IDH2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  100305-2 | IDH1 gene exon 4 targeted mutation analysis [Presence] in Blood or Marrow by Molecular genetics method
  100306-0 | IDH2 gene exon 4 targeted mutation analysis [Presence] in Blood or Marrow by Molecular genetics method
  95772-0 | IDH1 and IDH2 genes targeted mutation analysis in Blood or Tissue by Molecular genetics method
  21702-6 | KRAS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  21703-4 | KRAS gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
  53620-1 | KRAS gene mutations found [Identifier] in Bone marrow by Molecular genetics method Nominal
  75974-6 | KRAS gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
  81420-2 | KRAS and NRAS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  82535-6 | KRAS gene full mutation analysis in Blood or Tissue by Sequencing
  83059-6 | KRAS gene [VCF] in Cancer specimen by Sequencing
  85509-8 | KRAS gene mutations found [Identifier] in Colorectal cancer specimen by Molecular genetics method Nominal
  100026-4 | MET gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  102039-5 | MET gene amplification in Blood or Tissue by Molgen
  90926-7 | MET gene amplification in Blood or Tissue by FISH
  92906-7 | MET gene copy number/nucleus in Blood or Tissue by FISH
  92907-5 | MET gene copy number/Chromosome 7 copy number in Blood or Tissue by FISH
  21719-0 | NRAS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  21720-8 | NRAS gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
  53621-9 | NRAS gene mutations found [Identifier] in Bone marrow by Molecular genetics method Nominal
  83060-4 | NRAS gene [VCF] in Cancer specimen by Sequencing
  85510-6 | NRAS gene mutations found [Identifier] in Colorectal cancer specimen by Molecular genetics method Nominal
  101386-1 | RET gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
  21733-1 | RET gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  21734-9 | RET gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
  35742-6 | SH2D1A gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
  40346-9 | MT-CO1 gene m.7445A>G [Presence] in Blood or Tissue by Molecular genetics method
  40693-4 | RET gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
  41058-9 | SH2D1A gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  60033-8 | PIK3CA gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  60034-6 | PIK3CA gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
  63419-6 | PIK3CA gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
  83062-0 | PIK3CA gene [VCF] in Cancer specimen by Sequencing
  85507-2 | PIK3CA gene mutations found [Identifier] in Colorectal cancer specimen by Molecular genetics method Nominal
  90927-5 | RET gene rearrangements in Blood or Tissue by FISH
  94224-3 | RET gene full mutation analysis in Blood or Tissue by Sequencing
  93813-4 | NTRK1, NTRK2 and NTRK3 gene rearrangements in Tissue by Molecular genetics method
  102038-7 | ROS proto-oncogene 1 mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  97565-6 | B-cell primary immunodeficiency multigene analysis in Blood or Tissue by Molecular genetics method
  101630-2 | JAK2 gene rearrangements in Blood or Marrow by FISH
  101631-0 | JAK2 gene rearrangements in Blood or Tissue by FISH
  43399-5 | JAK2 gene p.Val617Phe [Presence] in Blood or Tissue by Molecular genetics method
  48726-4 | JAK2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
  53761-3 | JAK2 gene.p.Val617Phe mutant/Normal in Blood or Tissue by Molecular genetics method
  55300-8 | JAK2 gene exon 12 targeted mutation analysis in Blood or Tissue by Molecular genetics method
  55301-6 | JAK2 gene exon 13 targeted mutation analysis in Blood or Tissue by Molecular genetics method
  63421-2 | JAK2 gene exon 12 mutations tested for in Blood or Tissue by Molecular genetics method Nominal
  72333-8 | JAK2 gene p.Val617Phe [Presence] in Bone marrow by Molecular genetics method
  80186-0 | JAK2 gene exon 12 targeted mutation analysis in Bone marrow by Molecular genetics method
  80187-8 | JAK2 gene exon 14 targeted mutation analysis in Blood or Tissue by Molecular genetics method
  80188-6 | JAK2 gene exon 14 targeted mutation analysis in Bone marrow by Molecular genetics method
  85039-6 | JAK2 gene.p.Val617Phe mutant/Normal in Bone marrow by Molecular genetics method
  99962-3 | JAK2 gene exon 12 full mutation analysis in Blood or Tissue by Sequencing
  99963-1 | JAK2 gene exon 14 full mutation analysis in Blood or Tissue by Sequencing
  55201-8 | KIT gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
  77171-7 | KIT gene exon 11 mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  77172-5 | KIT gene exon 9 mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  87731-6 | KIT gene exon 17 targeted mutation analysis in Blood or Tissue by Molecular genetics method
  87732-4 | KIT gene exon 13 targeted mutation analysis in Blood or Tissue by Molecular genetics method
  87733-2 | KIT gene exon 8 targeted mutation analysis in Blood or Tissue by Molecular genetics method
  88519-4 | KIT gene c.2447A>T [Presence] in Blood or Tissue by Molecular genetics method
  99966-4 | KIT gene exon 17 full mutation analysis in Blood or Tissue by Sequencing
  35454-8 | MLL gene rearrangements in Blood or Tissue by Molecular genetics method
  38905-6 | MLL gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
  78219-3 | MLL gene rearrangements [Presence] in Blood or Tissue by FISH
  78226-8 | MLL gene rearrangements [Interpretation] in Blood or Tissue by FISH Narrative
  78234-2 | Cells.MLL gene rearrangements/Cells counted in Blood or Tissue by FISH
  47397-5 | BCS1L gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
  101384-6 | MYC gene amplification in Tissue by FISH
  101651-8 | MYC and BCL2 rearrangements in Tissue by FISH
  21750-5 | MYC gene rearrangements [Presence] in Blood or Tissue by Molecular genetics method
  21792-7 | t(8;14)(q24;q32)(MYC,IGH) cells/Cells.total in Blood or Tissue by Molecular genetics method
  21818-0 | t(8;14)(q24;q32)(MYC,IGH) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method
  42794-8 | MYC gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  77032-1 | t(8;14)(q24;q32)(MYC,IGH) fusion transcript in Blood or Tissue by FISH
  78215-1 | MYC gene rearrangements [Presence] in Blood or Tissue by FISH
  78222-7 | MYC gene rearrangements [Interpretation] in Blood or Tissue by FISH Narrative
  78229-2 | Cells.MYC gene rearrangements/Cells counted in Blood or Tissue by FISH
  70277-9 | t(3;5)(q25.1;q35.1)(MLF1,NPM1) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method
  70279-5 | t(5;17)(q25.1;q21.1)(NPM1,RARA) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method
  72309-8 | NPM1 gene c.960insCCTG transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method
  72310-6 | NPM1 gene c.960insCATG transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method
  72311-4 | NPM1 gene c.956dupTCTG transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method
  72334-6 | NPM1 gene c.960insCATG transcript/control transcript [# Ratio] in Bone marrow by Molecular genetics method
  72335-3 | NPM1 gene c.956dupTCTG transcript/control transcript [# Ratio] in Bone marrow by Molecular genetics method
  72336-1 | NPM1 gene c.960insCCTG transcript/control transcript [# Ratio] in Bone marrow by Molecular genetics method
  101640-1 | NUTM1 gene rearrangements in Blood or Tissue by FISH
  100664-2 | NUDT15 gene c.50_55dup and c.415C>T [Presence] in Blood by Molecular genetics method
  100665-9 | NUDT15 gene c.415C>T [Presence] in Blood by Molecular genetics method
  100666-7 | NUDT15 gene c.416G>A [Presence] in Blood by Molecular genetics method
  100667-5 | NUDT15 gene c.52G>A [Presence] in Blood by Molecular genetics method
  100668-3 | NUDT15 gene c.50_55dup [Presence] in Blood by Molecular genetics method
  100669-1 | NUDT15 gene c.50_55del [Presence] in Blood by Molecular genetics method
  93193-1 | TPMT gene and NUDT15 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
  93194-9 | NUDT15 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  93195-6 | NUDT15 gene product metabolic activity interpretation in Blood or Tissue Qualitative by Molecular genetics method
  21551-7 | t(15;17)(q24.1;q21.1)(PML,RARA) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method
  21785-1 | t(15;17)(q24.1;q21.1)(PML,RARA) cells/Cells.total in Blood or Tissue by Molecular genetics method
  72274-4 | t(15;17)(q24.1;q21.1)(PML,RARA) fusion transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method
  75011-7 | t(15;17)(q24.1;q21.1)(PML,RARA) fusion transcript [Presence] in Bone marrow by Molecular genetics method
  77031-3 | t(15;17)(q24.1;q21.1)(PML,RARA) fusion transcript in Blood or Tissue by FISH
  82903-6 | t(15;17)(q24.1;q21.1)(PML,RARA) fusion transcript/control transcript [# Ratio] in Bone marrow by Molecular genetics method
  34679-1 | PTPN11 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
  41065-4 | PTPN11 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  53791-0 | PTPN11 gene mutations tier 1 found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  53792-8 | PTPN11 gene mutations tier 3 found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  100024-9 | SETBP1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  99129-9 | SF3B1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  70289-4 | Del(1)(p32p32)(STIL,TAL1) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method
  100025-6 | SRSF2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  21776-0 | t(1;19)(q23.3;p13.3)(PBX1,TCF3) cells/Cells.total in Blood or Tissue by Molecular genetics method
  21800-8 | t(1;19)(q23.3;p13.3)(PBX1,TCF3) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method
  72312-2 | t(1;19)(q23.3;p13.3)(PBX1,TCF3) fusion transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method
  77030-5 | t(1;19)(q23.3;p13.3)(PBX1,TCF3) fusion transcript in Blood or Tissue by FISH
  42712-0 | AML/MDS gene 7q31 deletion [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  42713-8 | AML/MDS gene CEP 8 trisomy [Presence] in Blood or Tissue by Molecular genetics method
  42715-3 | Del(5)(q12-35) deletion [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  48974-0 | MDCR gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  21739-8 | TP53 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  94217-7 | TP53 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
  96970-9 | TP53 gene deletion and duplication mutation analysis [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  100663-4 | TPMT gene c.460G>A and c.719A>G [Presence] in Blood by Molecular genetics method
  36922-3 | TPMT gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
  41048-0 | TPMT gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  49653-9 | TPMT gene c.719A>G [Presence] in Blood or Tissue by Molecular genetics method
  49654-7 | TPMT gene c.238G>C [Presence] in Blood or Tissue by Molecular genetics method
  49655-4 | TPMT gene c.460G>A [Presence] in Blood or Tissue by Molecular genetics method
  63454-3 | TPMT gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
  71356-0 | TPMT gene c.238G>C+460G>A+719A>G [Identifier] in Blood or Tissue by Molecular genetics method Narrative
  79713-4 | TPMT gene product metabolic activity interpretation in Blood or Tissue Qualitative by Molecular genetics method
  80738-8 | TPMT gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal
  21742-2 | WT1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
  21743-0 | WT1 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
  21780-2 | t(11;22)(p13;q12.2)(WT1,EWSR1) cells/Cells.total in Blood or Tissue by Molecular genetics method
  21804-0 | t(11;22)(p13;q12.2)(WT1,EWSR1) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method
  72503-6 | WT1 gene exon 1+2 transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method

### Expansion

Expansion from tx.fhir.org based on Loinc v2.81

This value set contains 297 concepts

System | Code | Display (en) | JSON | XML
`http://loinc.org` | 99965-6 | ASXL1 gene exon 13 full mutation analysis in Blood or Tissue by Sequencing |  |
`http://loinc.org` | 21795-0 | t(9;22)(q34.1;q11)(ABL1,BCR) cells/Cells.total in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 21821-4 | t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 21822-2 | t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript major break points [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 21823-0 | t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript minor break points [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 42714-6 | t(9;22)(q34.1;q11)(ABL1,BCR) b2a2+b3a2 fusion transcript [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 46434-7 | t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 49490-6 | BCR-ABL1 b2a2 fusion protein [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 49491-4 | BCR-ABL1 b3a2 fusion protein [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 49496-3 | BCR-ABL1 e1a1 fusion protein [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 49795-8 | t(9;22)(q34.1;q11)(ABL1,BCR) e1a2 fusion transcript [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 49796-6 | t(9;22)(q34.1;q11)(ABL1,BCR) b2a2+b3a2 fusion transcript [#/volume] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 49797-4 | t(9;22)(q34.1;q11)(ABL1,BCR) b2a2+b3a2 fusion transcript [Presence] in Bone marrow by Molecular genetics method |  |
`http://loinc.org` | 50014-0 | t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 50195-7 | t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript/control transcript [Log Number Ratio] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 51867-0 | t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript in Blood or Tissue by FISH |  |
`http://loinc.org` | 52130-2 | t(9;22)(q34.1;q11)(ABL1,BCR) b2a2 fusion transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 52131-0 | t(9;22)(q34.1;q11)(ABL1,BCR) b3a2 fusion transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 52132-8 | t(9;22)(q34.1;q11)(ABL1,BCR) e1a2 fusion transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 52135-1 | t(9;22)(q34.1;q11)(ABL1,BCR) transcript detection panel - Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 54926-1 | t(9;22)(q34.1;q11)(ABL1,BCR) e19a2 fusion transcript [#/volume] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 55135-8 | BCR-ABL1 kinase domain mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 55147-3 | t(9;22)(q34.1;q11)(ABL1,BCR) b2a2+b3a2 fusion transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 60588-1 | t(15;17)(q24.1;q21.1)(PML,RARA) bcr2 fusion transcript [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 60589-9 | t(15;17)(q24.1;q21.1)(PML,RARA) bcr1 fusion transcript [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 63422-0 | t(9;22)(q34.1;q11)(ABL1,BCR) b2a2+b3a2+e1a2 fusion transcript [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 69380-4 | t(9;22)(q34.1;q11)(ABL1,BCR) b2a2+b3a2 fusion transcript/control transcript (International Scale) [# Ratio] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 69381-2 | t(9;22)(q34.1;q11)(ABL1,BCR) b2a2 fusion transcript/control transcript (International Scale) in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 69382-0 | t(9;22)(q34.1;q11)(ABL1,BCR) b3a2 fusion transcript/control transcript (International Scale) in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 69963-7 | t(9;22)(q34.1;q11)(ABL1,BCR) e1a2 fusion transcript/control transcript [# Ratio] in Bone marrow by Molecular genetics method |  |
`http://loinc.org` | 72211-6 | t(15;17)(q24.1;q21.1)(PML,RARA) bcr2 fusion transcript/control transcript [# Ratio] in Bone marrow by Molecular genetics method |  |
`http://loinc.org` | 72212-4 | t(15;17)(q24.1;q21.1)(PML,RARA) bcr1 fusion transcript/control transcript [# Ratio] in Bone marrow by Molecular genetics method |  |
`http://loinc.org` | 72213-2 | t(15;17)(q24.1;q21.1)(PML,RARA) bcr3 fusion transcript/control transcript [# Ratio] in Bone marrow by Molecular genetics method |  |
`http://loinc.org` | 72214-0 | t(15;17)(q24.1;q21.1)(PML,RARA) bcr3 fusion transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 72215-7 | t(15;17)(q24.1;q21.1)(PML,RARA) bcr2 fusion transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 72216-5 | t(15;17)(q24.1;q21.1)(PML,RARA) bcr1 fusion transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 74041-5 | BCR-ABL1 p210 Major Molecular Response (MMR) [Presence] in Blood or Tissue by Molecular genetics method --post treatment |  |
`http://loinc.org` | 75015-8 | t(9;22)(q34.1;q11)(ABL1,BCR) b2a2 fusion transcript [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 75016-6 | t(9;22)(q34.1;q11)(ABL1,BCR) b3a2 fusion transcript [Presence] in Bone marrow by Molecular genetics method |  |
`http://loinc.org` | 75017-4 | t(9;22)(q34.1;q11)(ABL1,BCR) e19a2 fusion transcript [Presence] in Bone marrow by Molecular genetics method |  |
`http://loinc.org` | 75018-2 | t(9;22)(q34.1;q11)(ABL1,BCR) e19a2 fusion transcript [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 75019-0 | t(9;22)(q34.1;q11)(ABL1,BCR) e1a2 fusion transcript [Presence] in Bone marrow by Molecular genetics method |  |
`http://loinc.org` | 75020-8 | t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript in Bone marrow by Molecular genetics method |  |
`http://loinc.org` | 75892-0 | t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript break points [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 82904-4 | t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript [Presence] in Bone marrow by Molecular genetics method |  |
`http://loinc.org` | 82905-1 | t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript/control transcript [Log Number Ratio] in Bone marrow by Molecular genetics method |  |
`http://loinc.org` | 21746-3 | BCL6 gene rearrangements [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 78203-7 | BCL6 gene rearrangements [Presence] in Blood or Tissue by FISH |  |
`http://loinc.org` | 78208-6 | BCL6 gene rearrangements [Interpretation] in Blood or Tissue by FISH Narrative |  |
`http://loinc.org` | 78213-6 | Cells.BCL6 gene rearrangements/Cells counted in Blood or Tissue by FISH |  |
`http://loinc.org` | 35474-6 | Gene XXX targeted mutation analysis in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 62203-5 | t(10;11)(p12;q23)(MLLT10,MLL) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 101377-0 | inv(16)(p13.1;q22.1)(MYH11,CBFB) fusion transcript in Blood or Marrow by Molecular genetics method |  |
`http://loinc.org` | 70156-5 | inv(16)(p13.1;q22.1)(MYH11,CBFB) fusion transcript/control transcript [Log Number Ratio] in Blood or Tissue |  |
`http://loinc.org` | 70291-0 | inv(16)(p13.1;q22.1)(MYH11,CBFB) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 72209-0 | inv(16)(p13.1;q22.1)(MYH11,CBFB) fusion transcript/control transcript [# Ratio] in Bone marrow by Molecular genetics method |  |
`http://loinc.org` | 72210-8 | inv(16)(p13.1;q22.1)(MYH11,CBFB) fusion transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 75010-9 | inv(16)(p13.1;q22.1)(MYH11,CBFB) fusion transcript [Presence] in Bone marrow by Molecular genetics method |  |
`http://loinc.org` | 77034-7 | inv(16)(p13.1;q22.1)(MYH11,CBFB) fusion transcript in Blood or Tissue by FISH |  |
`http://loinc.org` | 64012-8 | CEBPA gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 75009-1 | CEBPA gene full mutation analysis in Blood or Tissue by Sequencing |  |
`http://loinc.org` | 75032-3 | CEBPA gene full mutation analysis in Bone marrow by Sequencing |  |
`http://loinc.org` | 21791-9 | t(6;9)(p22;q34)(DEK,NUP214) cells/Cells.total in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 21817-2 | t(6;9)(p22;q34)(DEK,NUP214) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 70281-1 | t(9;9)(q34;q34)(NUP214,SET) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 77042-0 | t(6;9)(p22;q34)(DEK,NUP214) fusion transcript in Blood or Tissue by FISH |  |
`http://loinc.org` | 21782-8 | t(12;21)(p13;q22.3)(ETV6,RUNX1) cells/Cells.total in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 21806-5 | t(12;21)(p13;q22.3)(ETV6,RUNX1) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 48821-3 | t(12;21)(p13;q22.3)(ETV6,RUNX1) fusion transcript [Presence] in Bone marrow by Molecular genetics method |  |
`http://loinc.org` | 72217-3 | t(12;21)(p13;q22.3)(ETV6,RUNX1) fusion transcript/control transcript [# Ratio] in Bone marrow by Molecular genetics method |  |
`http://loinc.org` | 72218-1 | t(12;21)(p13;q22.3)(ETV6,RUNX1) fusion transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 77039-6 | t(12;21)(p13;q22.3)(ETV6,RUNX1) fusion transcript in Blood or Tissue by FISH |  |
`http://loinc.org` | 101380-4 | ETV6 gene rearrangements in Tissue by FISH |  |
`http://loinc.org` | 21790-1 | t(5;12)(q33.1;p13)(PDGFRB,ETV6) cells/Cells.total in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 21816-4 | t(5;12)(q33.1;p13)(PDGFRB,ETV6) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 70282-9 | t(9;12)(q34.1;p13)(ABL1,ETV6) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 70286-0 | t(12;22)(p13;q12.1)(ETV6,MN1) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 75014-1 | t(9;12)(q34.1;p13)(ABL1,ETV6) fusion transcript [Presence] in Bone marrow by Molecular genetics method |  |
`http://loinc.org` | 95783-7 | ETV6 gene rearrangements in Blood or Marrow by FISH |  |
`http://loinc.org` | 96964-2 | EZH2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 72520-0 | FLT3 gene.p.Asp835+Ile836 mutations [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 79210-1 | FLT3 gene internal tandem duplication [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 85100-6 | FLT3 gene internal tandem duplication [Presence] in Bone marrow by Molecular genetics method |  |
`http://loinc.org` | 92843-2 | FLT3 gene p.Asp835 mutations [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 92844-0 | FLT3 gene internal tandem duplication/Normal [Ratio] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 98489-8 | FLT3 gene internal tandem duplication length [#] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 98490-6 | FLT3 gene.p.Asp835+Ile836 mutations/Normal in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 70288-6 | t(17;19)(q22;p13.3)(HLF,TCF3) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 75397-0 | HNF1A gene full mutation analysis in Blood or Tissue by Sequencing |  |
`http://loinc.org` | 21793-5 | t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) cells/Cells.total in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 21819-8 | t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 70278-7 | t(3;21)(q26;q22.3)(MECOM,RUNX1) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 72207-4 | t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) fusion transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 72208-2 | t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) fusion transcript/control transcript [# Ratio] in Bone marrow by Molecular genetics method |  |
`http://loinc.org` | 75013-3 | t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) fusion transcript [Presence] in Bone marrow by Molecular genetics method |  |
`http://loinc.org` | 77040-4 | t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) fusion transcript in Blood or Tissue by FISH |  |
`http://loinc.org` | 100019-9 | ALK gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 21787-7 | t(2;5)(p23;q35.1)(ALK,NPM1) cells/Cells.total in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 21813-1 | t(2;5)(p23;q35.1)(ALK,NPM1) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 78205-2 | ALK gene rearrangements [Presence] in Blood or Tissue by FISH |  |
`http://loinc.org` | 78210-2 | ALK gene rearrangements [Interpretation] in Blood or Tissue by FISH Narrative |  |
`http://loinc.org` | 78233-4 | Cells.ALK gene rearrangements/Cells counted in Blood or Tissue by FISH |  |
`http://loinc.org` | 79206-9 | inv(2)(p21;p23)(EML4,ALK) fusion transcript [Presence] in Blood or Tissue by FISH |  |
`http://loinc.org` | 88744-8 | inv(2)(p21;p23)(EML4,ALK) fusion transcript [Presence] in Tissue by Molecular genetics method |  |
`http://loinc.org` | 90305-4 | t(2;5)(p23;q35.1)(ALK,NPM1) fusion transcript in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 53844-7 | BRAF gene targeted mutation analysis in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 58415-1 | BRAF gene p.Val600Glu [Presence] in Tissue by Molecular genetics method |  |
`http://loinc.org` | 58483-9 | BRAF gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 83061-2 | BRAF gene [VCF] in Cancer specimen by Sequencing |  |
`http://loinc.org` | 85101-4 | BRAF gene p.Val600Glu [Presence] in Bone marrow by Molecular genetics method |  |
`http://loinc.org` | 85511-4 | BRAF gene mutations found [Identifier] in Colorectal cancer specimen by Molecular genetics method Nominal |  |
`http://loinc.org` | 89861-9 | BRAF gene p.Val600Lys [Presence] in Tissue by Molecular genetics method |  |
`http://loinc.org` | 93690-6 | BRAF gene V600 mutations [Identifier] in Plasma cell-free DNA by Molecular genetics method Nominal |  |
`http://loinc.org` | 97025-1 | BRAF gene V600 mutations [Identifier] in Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 21636-6 | BRCA1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 21637-4 | BRCA1 gene.c.185 del AG [presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 21638-2 | BRCA1 gene c.5382insC [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 21639-0 | BRCA1 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 21640-8 | BRCA2 gene c.6174delT [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 38530-2 | BRCA2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 38531-0 | BRCA2 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 50995-0 | BRCA1+BRCA2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 59041-4 | BRCA1+BRCA2 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 79207-7 | BRCA1 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 79208-5 | BRCA2 gene mutation analysis limited to known familial mutations in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 94191-4 | BRCA1+BRCA2 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 21665-5 | EGFR gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 21666-3 | EGFR gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 55764-5 | EGFR gene exon 19 deletion [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 55765-2 | EGFR gene c.2156G>C+2155G>A+2155G>T [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 55766-0 | EGFR gene c.2573T>G [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 55767-8 | EGFR gene c.2582T>A [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 55768-6 | EGFR gene c.2303G>T [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 55769-4 | EGFR gene c.2369C>T [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 55770-2 | EGFR gene exon 20 insertion [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 85383-8 | EGFR gene c.2369C>T actual/normal in Plasma cell-free DNA by Molecular genetics method |  |
`http://loinc.org` | 31150-6 | ERBB2 gene duplication [Presence] in Tissue by FISH |  |
`http://loinc.org` | 42783-1 | ERBB2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 49683-6 | ERBB2 gene copy number/Chromosome 17 copy number in Tissue by FISH |  |
`http://loinc.org` | 74860-8 | ERBB2 gene copy number/nucleus in Tissue by FISH |  |
`http://loinc.org` | 85318-4 | ERBB2 gene duplication [Presence] in Breast cancer specimen by FISH |  |
`http://loinc.org` | 96893-3 | ERBB2 gene duplication in Tumor by FISH |  |
`http://loinc.org` | 21674-7 | FGFR2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 21675-4 | FGFR2 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 21676-2 | FGFR3 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 21677-0 | FGFR3 gene p.Gly375Cys [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 21678-8 | FGFR3 gene p.Gly380Arg [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 21679-6 | FGFR3 gene p.Lys650Glu [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 22074-9 | FGFR3 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 38412-3 | FGFR2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 38413-1 | FGFR3 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 42785-6 | FGFR1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 48972-4 | FGFR2 gene+FGFR3 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 72726-3 | t(4;14)(p16;q32)(FGFR3,IGH) fusion transcript [Identifier] in Blood or Tissue by FISH Nominal |  |
`http://loinc.org` | 75391-3 | FGFR3 gene targeted mutation analysis in Amniotic fluid or Chorionic villus sample by Molecular genetics method |  |
`http://loinc.org` | 78915-6 | FGFR1 gene rearrangements [Presence] in Blood or Tissue by FISH |  |
`http://loinc.org` | 78916-4 | FGFR1 gene rearrangements [Interpretation] in Blood or Tissue by FISH Narrative |  |
`http://loinc.org` | 78917-2 | Cells.FGFR1 gene rearrangements/Cells counted in Blood or Tissue by FISH |  |
`http://loinc.org` | 82137-1 | FGFR3 gene p.Gly380Arg targeted mutation analysis in Amniotic fluid or Chorionic villus sample by Molecular genetics method |  |
`http://loinc.org` | 95784-5 | FGFR2 gene rearrangements in Tissue by FISH |  |
`http://loinc.org` | 100022-3 | IDH1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 100023-1 | IDH2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 100305-2 | IDH1 gene exon 4 targeted mutation analysis [Presence] in Blood or Marrow by Molecular genetics method |  |
`http://loinc.org` | 100306-0 | IDH2 gene exon 4 targeted mutation analysis [Presence] in Blood or Marrow by Molecular genetics method |  |
`http://loinc.org` | 95772-0 | IDH1 and IDH2 genes targeted mutation analysis in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 21702-6 | KRAS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 21703-4 | KRAS gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 53620-1 | KRAS gene mutations found [Identifier] in Bone marrow by Molecular genetics method Nominal |  |
`http://loinc.org` | 75974-6 | KRAS gene targeted mutation analysis in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 81420-2 | KRAS and NRAS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 82535-6 | KRAS gene full mutation analysis in Blood or Tissue by Sequencing |  |
`http://loinc.org` | 83059-6 | KRAS gene [VCF] in Cancer specimen by Sequencing |  |
`http://loinc.org` | 85509-8 | KRAS gene mutations found [Identifier] in Colorectal cancer specimen by Molecular genetics method Nominal |  |
`http://loinc.org` | 100026-4 | MET gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 102039-5 | MET gene amplification in Blood or Tissue by Molgen |  |
`http://loinc.org` | 90926-7 | MET gene amplification in Blood or Tissue by FISH |  |
`http://loinc.org` | 92906-7 | MET gene copy number/nucleus in Blood or Tissue by FISH |  |
`http://loinc.org` | 92907-5 | MET gene copy number/Chromosome 7 copy number in Blood or Tissue by FISH |  |
`http://loinc.org` | 21719-0 | NRAS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 21720-8 | NRAS gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 53621-9 | NRAS gene mutations found [Identifier] in Bone marrow by Molecular genetics method Nominal |  |
`http://loinc.org` | 83060-4 | NRAS gene [VCF] in Cancer specimen by Sequencing |  |
`http://loinc.org` | 85510-6 | NRAS gene mutations found [Identifier] in Colorectal cancer specimen by Molecular genetics method Nominal |  |
`http://loinc.org` | 101386-1 | RET gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 21733-1 | RET gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 21734-9 | RET gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 35742-6 | SH2D1A gene targeted mutation analysis in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 40346-9 | MT-CO1 gene m.7445A>G [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 40693-4 | RET gene targeted mutation analysis in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 41058-9 | SH2D1A gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 60033-8 | PIK3CA gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 60034-6 | PIK3CA gene targeted mutation analysis in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 63419-6 | PIK3CA gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 83062-0 | PIK3CA gene [VCF] in Cancer specimen by Sequencing |  |
`http://loinc.org` | 85507-2 | PIK3CA gene mutations found [Identifier] in Colorectal cancer specimen by Molecular genetics method Nominal |  |
`http://loinc.org` | 90927-5 | RET gene rearrangements in Blood or Tissue by FISH |  |
`http://loinc.org` | 94224-3 | RET gene full mutation analysis in Blood or Tissue by Sequencing |  |
`http://loinc.org` | 93813-4 | NTRK1, NTRK2 and NTRK3 gene rearrangements in Tissue by Molecular genetics method |  |
`http://loinc.org` | 102038-7 | ROS proto-oncogene 1 mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 97565-6 | B-cell primary immunodeficiency multigene analysis in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 101630-2 | JAK2 gene rearrangements in Blood or Marrow by FISH |  |
`http://loinc.org` | 101631-0 | JAK2 gene rearrangements in Blood or Tissue by FISH |  |
`http://loinc.org` | 43399-5 | JAK2 gene p.Val617Phe [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 48726-4 | JAK2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 53761-3 | JAK2 gene.p.Val617Phe mutant/Normal in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 55300-8 | JAK2 gene exon 12 targeted mutation analysis in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 55301-6 | JAK2 gene exon 13 targeted mutation analysis in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 63421-2 | JAK2 gene exon 12 mutations tested for in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 72333-8 | JAK2 gene p.Val617Phe [Presence] in Bone marrow by Molecular genetics method |  |
`http://loinc.org` | 80186-0 | JAK2 gene exon 12 targeted mutation analysis in Bone marrow by Molecular genetics method |  |
`http://loinc.org` | 80187-8 | JAK2 gene exon 14 targeted mutation analysis in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 80188-6 | JAK2 gene exon 14 targeted mutation analysis in Bone marrow by Molecular genetics method |  |
`http://loinc.org` | 85039-6 | JAK2 gene.p.Val617Phe mutant/Normal in Bone marrow by Molecular genetics method |  |
`http://loinc.org` | 99962-3 | JAK2 gene exon 12 full mutation analysis in Blood or Tissue by Sequencing |  |
`http://loinc.org` | 99963-1 | JAK2 gene exon 14 full mutation analysis in Blood or Tissue by Sequencing |  |
`http://loinc.org` | 55201-8 | KIT gene targeted mutation analysis in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 77171-7 | KIT gene exon 11 mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 77172-5 | KIT gene exon 9 mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 87731-6 | KIT gene exon 17 targeted mutation analysis in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 87732-4 | KIT gene exon 13 targeted mutation analysis in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 87733-2 | KIT gene exon 8 targeted mutation analysis in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 88519-4 | KIT gene c.2447A>T [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 99966-4 | KIT gene exon 17 full mutation analysis in Blood or Tissue by Sequencing |  |
`http://loinc.org` | 35454-8 | MLL gene rearrangements in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 38905-6 | MLL gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 78219-3 | MLL gene rearrangements [Presence] in Blood or Tissue by FISH |  |
`http://loinc.org` | 78226-8 | MLL gene rearrangements [Interpretation] in Blood or Tissue by FISH Narrative |  |
`http://loinc.org` | 78234-2 | Cells.MLL gene rearrangements/Cells counted in Blood or Tissue by FISH |  |
`http://loinc.org` | 47397-5 | BCS1L gene targeted mutation analysis in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 101384-6 | MYC gene amplification in Tissue by FISH |  |
`http://loinc.org` | 101651-8 | MYC and BCL2 rearrangements in Tissue by FISH |  |
`http://loinc.org` | 21750-5 | MYC gene rearrangements [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 21792-7 | t(8;14)(q24;q32)(MYC,IGH) cells/Cells.total in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 21818-0 | t(8;14)(q24;q32)(MYC,IGH) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 42794-8 | MYC gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 77032-1 | t(8;14)(q24;q32)(MYC,IGH) fusion transcript in Blood or Tissue by FISH |  |
`http://loinc.org` | 78215-1 | MYC gene rearrangements [Presence] in Blood or Tissue by FISH |  |
`http://loinc.org` | 78222-7 | MYC gene rearrangements [Interpretation] in Blood or Tissue by FISH Narrative |  |
`http://loinc.org` | 78229-2 | Cells.MYC gene rearrangements/Cells counted in Blood or Tissue by FISH |  |
`http://loinc.org` | 70277-9 | t(3;5)(q25.1;q35.1)(MLF1,NPM1) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 70279-5 | t(5;17)(q25.1;q21.1)(NPM1,RARA) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 72309-8 | NPM1 gene c.960insCCTG transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 72310-6 | NPM1 gene c.960insCATG transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 72311-4 | NPM1 gene c.956dupTCTG transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 72334-6 | NPM1 gene c.960insCATG transcript/control transcript [# Ratio] in Bone marrow by Molecular genetics method |  |
`http://loinc.org` | 72335-3 | NPM1 gene c.956dupTCTG transcript/control transcript [# Ratio] in Bone marrow by Molecular genetics method |  |
`http://loinc.org` | 72336-1 | NPM1 gene c.960insCCTG transcript/control transcript [# Ratio] in Bone marrow by Molecular genetics method |  |
`http://loinc.org` | 101640-1 | NUTM1 gene rearrangements in Blood or Tissue by FISH |  |
`http://loinc.org` | 100664-2 | NUDT15 gene c.50_55dup and c.415C>T [Presence] in Blood by Molecular genetics method |  |
`http://loinc.org` | 100665-9 | NUDT15 gene c.415C>T [Presence] in Blood by Molecular genetics method |  |
`http://loinc.org` | 100666-7 | NUDT15 gene c.416G>A [Presence] in Blood by Molecular genetics method |  |
`http://loinc.org` | 100667-5 | NUDT15 gene c.52G>A [Presence] in Blood by Molecular genetics method |  |
`http://loinc.org` | 100668-3 | NUDT15 gene c.50_55dup [Presence] in Blood by Molecular genetics method |  |
`http://loinc.org` | 100669-1 | NUDT15 gene c.50_55del [Presence] in Blood by Molecular genetics method |  |
`http://loinc.org` | 93193-1 | TPMT gene and NUDT15 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 93194-9 | NUDT15 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 93195-6 | NUDT15 gene product metabolic activity interpretation in Blood or Tissue Qualitative by Molecular genetics method |  |
`http://loinc.org` | 21551-7 | t(15;17)(q24.1;q21.1)(PML,RARA) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 21785-1 | t(15;17)(q24.1;q21.1)(PML,RARA) cells/Cells.total in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 72274-4 | t(15;17)(q24.1;q21.1)(PML,RARA) fusion transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 75011-7 | t(15;17)(q24.1;q21.1)(PML,RARA) fusion transcript [Presence] in Bone marrow by Molecular genetics method |  |
`http://loinc.org` | 77031-3 | t(15;17)(q24.1;q21.1)(PML,RARA) fusion transcript in Blood or Tissue by FISH |  |
`http://loinc.org` | 82903-6 | t(15;17)(q24.1;q21.1)(PML,RARA) fusion transcript/control transcript [# Ratio] in Bone marrow by Molecular genetics method |  |
`http://loinc.org` | 34679-1 | PTPN11 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 41065-4 | PTPN11 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 53791-0 | PTPN11 gene mutations tier 1 found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 53792-8 | PTPN11 gene mutations tier 3 found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 100024-9 | SETBP1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 99129-9 | SF3B1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 70289-4 | Del(1)(p32p32)(STIL,TAL1) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 100025-6 | SRSF2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 21776-0 | t(1;19)(q23.3;p13.3)(PBX1,TCF3) cells/Cells.total in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 21800-8 | t(1;19)(q23.3;p13.3)(PBX1,TCF3) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 72312-2 | t(1;19)(q23.3;p13.3)(PBX1,TCF3) fusion transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 77030-5 | t(1;19)(q23.3;p13.3)(PBX1,TCF3) fusion transcript in Blood or Tissue by FISH |  |
`http://loinc.org` | 42712-0 | AML/MDS gene 7q31 deletion [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 42713-8 | AML/MDS gene CEP 8 trisomy [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 42715-3 | Del(5)(q12-35) deletion [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 48974-0 | MDCR gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 21739-8 | TP53 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 94217-7 | TP53 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 96970-9 | TP53 gene deletion and duplication mutation analysis [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 100663-4 | TPMT gene c.460G>A and c.719A>G [Presence] in Blood by Molecular genetics method |  |
`http://loinc.org` | 36922-3 | TPMT gene targeted mutation analysis in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 41048-0 | TPMT gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 49653-9 | TPMT gene c.719A>G [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 49654-7 | TPMT gene c.238G>C [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 49655-4 | TPMT gene c.460G>A [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 63454-3 | TPMT gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 71356-0 | TPMT gene c.238G>C+460G>A+719A>G [Identifier] in Blood or Tissue by Molecular genetics method Narrative |  |
`http://loinc.org` | 79713-4 | TPMT gene product metabolic activity interpretation in Blood or Tissue Qualitative by Molecular genetics method |  |
`http://loinc.org` | 80738-8 | TPMT gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal |  |
`http://loinc.org` | 21742-2 | WT1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 21743-0 | WT1 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal |  |
`http://loinc.org` | 21780-2 | t(11;22)(p13;q12.2)(WT1,EWSR1) cells/Cells.total in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 21804-0 | t(11;22)(p13;q12.2)(WT1,EWSR1) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method |  |
`http://loinc.org` | 72503-6 | WT1 gene exon 1+2 transcript/control transcript [# Ratio] in Blood or Tissue by Molecular genetics method |  |

Explanation of the columns that may appear on this page:

Level | A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies
System | The source of the definition of the code (when the value set draws in codes defined elsewhere)
Code | The code (used as the code in the resource instance)
Display | The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application
Definition | An explanation of the meaning of the concept
Comments | Additional notes about how to use the code