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FHIR IG Statistics: ValueSet/gene-test-code

Packagetw.gov.mohw.nhi.ngs
Resource TypeValueSet
Idgene-test-code
FHIR VersionR4
Sourcehttps://nhicore.nhi.gov.tw/ngs/https://build.fhir.org/ig/TWNHIFHIR/ngs/ValueSet-gene-test-code.html
URLhttps://nhicore.nhi.gov.tw/ngs/ValueSet/gene-test-code
Version1.0.0
Statusactive
Date2025-04-30
NameGeneTestCode
TitleLOINC-健保NGS-基因檢測代碼值集
Realmtw
Authoritynational
DescriptionLOINC-健保NGS-基因檢測代碼值集

Resources that use this resource

StructureDefinition
Observation-twngs基因資訊-Observation TWNGS

Resources that this resource uses

CodeSystem
loinc.orgLogical Observation Identifiers, Names and Codes (LOINC)

Narrative

Note: links and images are rebased to the (stated) source

Generated Narrative: ValueSet gene-test-code

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

Source

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