Version 2.77

Part Descriptions

LP19847-0   t(8;21)(q22;q22.3)(RUNX1T1,RUNX1)
Translocation (8;21) resulting in a fused transcript between RUNX1T1 (also known as ETO) and RUNX1 genes is one of the most common chromosomal translocations found in acute myeloid leukemia (AML). The RUNX1T1-RUNX1 fusion transcript is found in approximately 12% of all AML patients. RUNX1 is a transcription factor that regulates critical processes in many aspects of hematopoiesis and is essential in defining the final hematopoietic stem cell. It is involved in many forms of chromosomal translocations in leukemia. In addition, many hematological diseases have been associated with mutations in RUNX1. PMID: 22201794 Source: Regenstrief LOINC, PMID: 22201794

LP62864-1   FISH
FISH (fluorescence in situ hybridization) is a cytogenetic technique used to detect and localize the presence or absence of specific DNA sequences on chromosomes. FISH uses fluorescent probes that bind to only those parts of the chromosome with which they show a high degree of sequence similarity. Fluorescence microscopy can be used to find out where the fluorescent probe bound to the chromosomes. FISH is often used for finding specific features in DNA for use in genetic counseling, medicine, and species identification. FISH can also be used to detect and localize specific mRNAs within tissue samples. In this context, it can help define the spatial-temporal patterns of gene expression within cells and tissues. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, FISH

Fully-Specified Name

Component
t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) fusion transcript
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
FISH

Additional Names

Short Name
t(8;21)(RUNX1T1,RUNX1) Bld/T FISH
Display Name
t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) fusion transcript FISH Doc (Bld/Tiss)
Consumer Name Alpha Get Info
t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) fusion transcript analysis, Blood or tissue specimen

Associated Observations

77314-3 Chromosome analysis basic associated observations panel - Blood or Tissue by Cytogenetics

This panel includes a small set of terms used to report the basic information associated with a cytogenetic chromosome analysis result.

LOINC Name R/O/C Cardinality Example UCUM Units
77314-3 Chromosome analysis basic associated observations panel - Blood or Tissue by Cytogenetics
Indent62356-1 Chromosome analysis result in ISCN expression
Indent62360-3 Cells analyzed [#] {#}
Indent78044-5 Disease assessed [Identifier] Blood or Tissue
Indent78045-2 Disease analysis overall interpretation Blood or Tissue Narrative
Indent78040-3 FISH probe target gene [Identifier] in Laboratory device 0..*
Indent78041-1 FISH probe target locus [Identifier] in Laboratory device 0..*
Indent78042-9 Vendor FISH product name [Identifier] in Blood or Tissue 0..*
Indent62372-8 FISH probe vendor [Identifier] in Laboratory device

81247-9 Master HL7 genetic variant reporting panel

LOINC Name R/O/C Cardinality Example UCUM Units
81247-9 Master HL7 genetic variant reporting panel
Indent81306-3 Variables that apply to the overall study
IndentIndent53577-3 Reason for study O 0..*
IndentIndent51967-8 Genetic disease assessed [ID] O 0..*
IndentIndent51963-7 Medication assessed [ID] C 0..*
IndentIndent48018-6 Gene studied [ID] C 0..*
IndentIndent36908-2 Gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal C 0..*
IndentIndent51959-5 Range(s) of DNA sequence examined C 0..*
IndentIndent81293-3 Description of ranges of DNA sequences examined C 0..1
IndentIndent51968-6 Discrete variation analysis overall interpretation R 1..1
IndentIndent83006-7 Deletion-duplication overall interpretation C
IndentIndent51969-4 Genetic analysis report O 0..1
IndentIndent81291-7 Variant ISCN C
IndentIndent62374-4 Human reference sequence assembly version C 0..1
IndentIndent81303-0 HGVS version [ID] O 0..1
IndentIndent82115-7 dbSNP version [ID] O 0..1
IndentIndent83007-5 COSMIC version [ID] O
IndentIndent83008-3 ClinVar version [ID] O
Indent81250-3 Discrete genetic variant panel 0..n
IndentIndent83005-9 Variant category
IndentIndent81252-9 Discrete genetic variant C 0..1
IndentIndent48018-6 Gene studied [ID] C 0..1
IndentIndent51958-7 Transcript reference sequence [ID] C 0..1
IndentIndent48004-6 DNA change (c.HGVS) C 0..1
IndentIndent48005-3 Amino acid change (pHGVS) C 0..1
IndentIndent48019-4 DNA change type O 0..1
IndentIndent48006-1 Amino acid change [Type] O 0..1
IndentIndent48013-7 Genomic reference sequence [ID] C 0..1
IndentIndent81290-9 Genomic DNA change (gHGVS) C
IndentIndent69547-8 Genomic ref allele [ID] C 0..1
IndentIndent81254-5 Genomic allele start-end C 0..1
IndentIndent69551-0 Genomic alt allele [ID] C 0..1
IndentIndent84414-2 Haplotype name O
IndentIndent81255-2 dbSNP [ID] O 0..1
IndentIndent81257-8 CIGAR [ID] O 0..1
IndentIndent48001-2 Cytogenetic (chromosome) location O 0..1
IndentIndent48002-0 Genomic source class [Type] O 0..1
IndentIndent81304-8 Variant analysis method [Type] O
IndentIndent53037-8 Genetic variation clinical significance [Imp] O 0..1
IndentIndent69548-6 Genetic variant assessment O
IndentIndent81259-4 Associated phenotype O 0..1
IndentIndent53034-5 Allelic state C 0..1
IndentIndent81258-6 Sample variant allelic frequency [NFr] O 0..1 %
IndentIndent82121-5 Allelic read depth O 0..1 {#}
IndentIndent82120-7 Allelic phase O 0..1
IndentIndent82309-6 Basis for allelic phase [Type] O
Indent81297-4 Structural variant panel
IndentIndent82155-3 Genomic structural variant copy number {#}
IndentIndent81299-0 Structural variant reported arrCGH [Ratio] C 0..1 {Ratio}
IndentIndent81300-6 Structural variant [Length] O 0..1 {#}
IndentIndent81301-4 Structural variant outer start and end O 0..1 {Range}
IndentIndent81302-2 Structural variant inner start and end O 0..1 {Range}
Indent81251-1 Complex genetic variant panel 0..n
IndentIndent81260-2 Complex genetic variant [ID] C 0..1
IndentIndent81262-8 Complex variant HGVS name C 0..1
IndentIndent81263-6 Complex variant type C 0..1
IndentIndent81259-4 Associated phenotype O 0..1
IndentIndent53037-8 Genetic variation clinical significance [Imp] O 0..1
IndentIndent53034-5 Allelic state O 0..1
IndentIndent82309-6 Basis for allelic phase [Type] O
IndentIndent81250-3 Discrete genetic variant panel 0..n
IndentIndentIndent83005-9 Variant category
IndentIndentIndent81252-9 Discrete genetic variant C 0..1
IndentIndentIndent48018-6 Gene studied [ID] C 0..1
IndentIndentIndent51958-7 Transcript reference sequence [ID] C 0..1
IndentIndentIndent48004-6 DNA change (c.HGVS) C 0..1
IndentIndentIndent48005-3 Amino acid change (pHGVS) C 0..1
IndentIndentIndent48019-4 DNA change type O 0..1
IndentIndentIndent48006-1 Amino acid change [Type] O 0..1
IndentIndentIndent48013-7 Genomic reference sequence [ID] C 0..1
IndentIndentIndent81290-9 Genomic DNA change (gHGVS) C
IndentIndentIndent69547-8 Genomic ref allele [ID] C 0..1
IndentIndentIndent81254-5 Genomic allele start-end C 0..1
IndentIndentIndent69551-0 Genomic alt allele [ID] C 0..1
IndentIndentIndent84414-2 Haplotype name O
IndentIndentIndent81255-2 dbSNP [ID] O 0..1
IndentIndentIndent81257-8 CIGAR [ID] O 0..1
IndentIndentIndent48001-2 Cytogenetic (chromosome) location O 0..1
IndentIndentIndent48002-0 Genomic source class [Type] O 0..1
IndentIndentIndent81304-8 Variant analysis method [Type] O
IndentIndentIndent53037-8 Genetic variation clinical significance [Imp] O 0..1
IndentIndentIndent69548-6 Genetic variant assessment O
IndentIndentIndent81259-4 Associated phenotype O 0..1
IndentIndentIndent53034-5 Allelic state C 0..1
IndentIndentIndent81258-6 Sample variant allelic frequency [NFr] O 0..1 %
IndentIndentIndent82121-5 Allelic read depth O 0..1 {#}
IndentIndentIndent82120-7 Allelic phase O 0..1
IndentIndentIndent82309-6 Basis for allelic phase [Type] O
Indent82118-1 Pharmacogenomics result panel
IndentIndent48018-6 Gene studied [ID] 1..*
IndentIndent84413-4 Genotype display name
IndentIndent53040-2 Genetic variation's effect on drug metabolism C 0..1
IndentIndent51961-1 Genetic variation's effect on drug efficacy C 0..1
IndentIndent83009-1 Genetic variation's effect on high-risk allele
IndentIndent82117-3 Medication usage implications panel O 0..*
IndentIndentIndent51963-7 Medication assessed [ID] R 1..*
IndentIndentIndent82116-5 Medication usage suggestion [Type] C 1..1
IndentIndentIndent83010-9 Medication usage suggestion [Narrative] C
Indent83011-7 Haplotype definition panel
IndentIndent48018-6 Gene studied [ID] C 0..1
IndentIndent84414-2 Haplotype name O
IndentIndent81250-3 Discrete genetic variant panel 0..n
IndentIndentIndent83005-9 Variant category
IndentIndentIndent81252-9 Discrete genetic variant C 0..1
IndentIndentIndent48018-6 Gene studied [ID] C 0..1
IndentIndentIndent51958-7 Transcript reference sequence [ID] C 0..1
IndentIndentIndent48004-6 DNA change (c.HGVS) C 0..1
IndentIndentIndent48005-3 Amino acid change (pHGVS) C 0..1
IndentIndentIndent48019-4 DNA change type O 0..1
IndentIndentIndent48006-1 Amino acid change [Type] O 0..1
IndentIndentIndent48013-7 Genomic reference sequence [ID] C 0..1
IndentIndentIndent81290-9 Genomic DNA change (gHGVS) C
IndentIndentIndent69547-8 Genomic ref allele [ID] C 0..1
IndentIndentIndent81254-5 Genomic allele start-end C 0..1
IndentIndentIndent69551-0 Genomic alt allele [ID] C 0..1
IndentIndentIndent84414-2 Haplotype name O
IndentIndentIndent81255-2 dbSNP [ID] O 0..1
IndentIndentIndent81257-8 CIGAR [ID] O 0..1
IndentIndentIndent48001-2 Cytogenetic (chromosome) location O 0..1
IndentIndentIndent48002-0 Genomic source class [Type] O 0..1
IndentIndentIndent81304-8 Variant analysis method [Type] O
IndentIndentIndent53037-8 Genetic variation clinical significance [Imp] O 0..1
IndentIndentIndent69548-6 Genetic variant assessment O
IndentIndentIndent81259-4 Associated phenotype O 0..1
IndentIndentIndent53034-5 Allelic state C 0..1
IndentIndentIndent81258-6 Sample variant allelic frequency [NFr] O 0..1 %
IndentIndentIndent82121-5 Allelic read depth O 0..1 {#}
IndentIndentIndent82120-7 Allelic phase O 0..1
IndentIndentIndent82309-6 Basis for allelic phase [Type] O

Basic Attributes

Class
MOLPATH.TRNLOC
Type
Laboratory
First Released
Version 2.52
Last Updated
Version 2.65
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) Tránscritos de fusión:Hallazgo:Punto temporal:Sangre o tejido:Doc:Hibridación in situ fluoresente (FISH)
es-MX Spanish (Mexico) t (8; 21) (q22; q22.3) (RUNX1T1, RUNX1) transcripción de fusión:Hallazgo:Punto temporal:Sangre o tejido:Documento:Hibridación fluorescente in situ (FISH)
fr-FR French (France) t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) transcrit de fusion:Recherche:Ponctuel:Sang/Tissu:Document:FISH
it-IT Italian (Italy) t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) , trascritto di fusione:Osservazione:Pt:Sangue/Tess:Doc:FISH
Synonyms: Ibridazione in situ fluorescente (FISH) Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci Traslocazione genetica
nl-NL Dutch (Netherlands) t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) fusietranscript:bevinding:moment:bloed of weefsel:document:FISH
tr-TR Turkish (Turkey) t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) füzyon transkript:Bulgu:Zmlı:Kan/Dk:Dokm:FISH
zh-CN Chinese (China) t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) 融合转录物:发现:时间点:全血/组织:文档型:FISH
Synonyms: AML1 CDR ETO Fluorescent in situ hybridization;荧光原位杂交 MGC2796 MTG8 RUNX1T1 T(8,21)(CBFA2T1,CBFA2) 基因易位;T(8,21)(CBFA2T1,CBFA2) 易位 ZMYND2 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 全血或组织;血液/组织;血液或组织 分子病理学.基因易位;分子病理学.易位;分子病理学试验.基因易位;分子病理学试验.易位;分子病理学试验类.易位;基因易位 分子病理学;分子病理学试验 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 急性髓性白血病 1 急性髓性白血病 1 易位 1, 细胞周期蛋白-D 相关性 急性髓性白血病 1 染色体易位 1, 细胞周期蛋白-D 相关性 急性髓系白细胞 1 急性髓系白细胞 1 易位 1, 细胞周期蛋白-D 相关性 急性髓系白细胞 1 易位 1, 细胞周期蛋白-D 相关性（Acute myelogenous leukemia 1 translocation 1, cyclin-D related） 急性髓系白细胞 1 染色体易位 1, 细胞周期蛋白-D 相关性 急性髓系白细胞 1（Acute myeloid leukemia 1） 急性髓细胞白血病 1 急性髓细胞白血病 1 易位 1, 细胞周期蛋白-D 相关性 急性髓细胞白血病 1 染色体易位 1, 细胞周期蛋白-D 相关性 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 染色体 8q22 之上的 AML1T1L 髓系易位基因 核心结合因子侏儒结构域 alpha 亚基 2 核心结合因子侏儒结构域α亚基 2 核心结合因子矮小域 alpha 亚基 2 核心结合因子矮小域α亚基 2 核心结合因子矮小结构域 alpha 亚基 2 核心结合因子矮小结构域 alpha 亚基 2（Core binding factor runt domain alpha subunit 2） 核心结合因子矮小结构域α亚基 2 融合转录物（转录本、转录产物、转录子、转录）;融合基因转录本;融合转录 血;血液

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=77040-4