77039-6

t(12;21)(p13;q22.3)(ETV6,RUNX1) fusion transcript in Blood or Tissue by FISH

Active

Part Descriptions

LP19835-5 t(12;21)(p13;q22.3)(ETV6,RUNX1)
The chromosomal translocation t(12;21)(p13;q22) results in a fused transcript between ETV6-RUNX1 (TEL-AML1) genes and is the most common translocation in B cell childhood acute lymphoblastic leukemia (ALL), accounting for 25% of childhood ALL. Molecular and cytogenetic techniques such as real-time PCR and FISH are used to detect the ETV6-RUNX1 fused transcripts. Source: Regenstrief LOINC

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

LOINC Names Get Info

Fully-Specified Name: t(12;21)(p13;q22.3)(ETV6,RUNX1) fusion transcript:Find:Pt:Bld/Tiss:Doc:FISH
Long Common Name: t(12;21)(p13;q22.3)(ETV6,RUNX1) fusion transcript in Blood or Tissue by FISH
Short Name: t(12;21)(ETV6,RUNX1) Bld/T FISH
Display Name: t(12;21)(p13;q22.3)(ETV6,RUNX1) fusion transcript FISH Doc (Bld/Tiss)
Consumer Name Alpha Get Info: t(12;21)(p13;q22.3)(ETV6,RUNX1) fusion transcript analysis, Blood or tissue specimen

Part Model Get Info

Component
t(12;21)(p13;q22.3)(ETV6,RUNX1) fusion transcript
LP229736-6
- Analyte
  t(12;21)(p13;q22.3)(ETV6,RUNX1) fusion transcript
  LP229736-6
  - Component Numerator
    t(12;21)(p13;q22.3)(ETV6,RUNX1) fusion transcript
    LP229736-6
    - Component Numerator Core
      t(12;21)(p13;q22.3)(ETV6,RUNX1)
      LP19835-5
    - Component Numerator Core Suffix
      fusion transcript
      LP150217-0
  - Component Denominator
    NULL
    - Component Denominator Core
      NULL
    - Component Denominator Core Suffix
      NULL
- Challenge
  NULL
- Adjustment
  NULL
- Count
  NULL
Property
Find
LP6813-2
Time
Pt
LP6960-1
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
System
Bld/Tiss
LP7061-7
- System Core
  Bld/Tiss
  LP7061-7
- Super System
  NULL
Scale
Doc
LP32888-7
Method
FISH
LP62864-1

Associated Observations

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 (MIN)
Order vs. Observation: Both

Language Variants Get Info

Tag	Language	Translation
cs-CZ	Czech (Czechia)	Fúzní transkript t(12;21)(p13;q22.3)(ETV6,RUNX1):Nález:Časový bod:Krev/tkáň:Dokument:Fluorescenční in situ hybridizace (FISH)
el-GR	Greek (Greece)	t(12;21)(p13;q22.3)(ETV6,RUNX1) μεταγραφή συγχώνευσης:Εύρεση:Pt:Αίμα/Ιστός:Doc:Φθορίζουσα υβριδοποίηση in situ Synonyms: Doc MOLPATH MOLPATH.TRNLOC Pt t(12;21)(p13;q22.3)(ETV6,RUNX1) Αίμα Αίμα/Ιστός Εύρεση Ιστός μεταγραφή συγχώνευσης Φθορίζουσα υβριδοποίηση in situ
es-ES	Spanish (Spain)	t(12;21)(p13;q22.3)(ETV6,RUNX1) Tránscritos de fusión:Hallazgo:Punto temporal:Sangre o tejido:Doc:Hibridación in situ fluoresente (FISH)
es-MX	Spanish (Mexico)	t (12; 21) (p13; q22.3) (ETV6, RUNX1) transcripción de fusión:Hallazgo:Punto temporal:Sangre o tejido:Documento:Hibridación fluorescente in situ (FISH)
fr-FR	French (France)	t(12;21)(p13;q22.3)(ETV6,RUNX1) transcript de fusion:Recherche:Ponctuel:Sang/Tissu:Document:FISH
fr-CA	French (Canada)	t(12;21)(p13;q22.3)(ETV6,RUNX1) transcrit de fusion:Observation:Temps ponctuel:Sang/Tissu:Document:Hybridation fluorescente in situ
it-IT	Italian (Italy)	t(12,21)(p13,q22.3)(ETV6,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(12;21)(p13;q22.3)(ETV6,RUNX1) fusietranscript:bevinding:moment:bloed of weefsel:document:FISH
pl-PL	Polish (Poland)	t(12;21)(p13;q22.3)(ETV6,RUNX1) transkrypt fuzyjny:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:FISH Synonyms: fluorescencyjna hybrydyzacja in situ
tr-TR	Turkish (Turkey)	t(12;21)(p13;q22.3)(ETV6,RUNX1) füzyon transkript:Bulgu:Zmlı:Kan/Dk:Dokm:FISH
zh-CN	Chinese (China)	t(12;21)(p13;q22.3)(ETV6,RUNX1) 融合转录物:发现:时间点:全血/组织:文档型:FISH Synonyms: AML1 ETS 变体基因 6 ETS 差异基因 6 ETS 突变体基因 6 ETS 突变基因 6 ETS 突变基因 6（ets variant gene 6，ETV6） Fluorescent in situ hybridization;荧光原位杂交 T(12,21)(ETV6,CBFA2) 基因易位;T(12,21)(ETV6,CBFA2) 易位 TEL TEL 癌基因 TEL 癌基因（Tel oncogene） TEL 致癌基因 TEL1 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 急性髓系白细胞 1 急性髓系白细胞 1（Acute myeloid leukemia 1）急性髓细胞白血病 1 时刻;随机;随意;瞬间易位 ETS 白血病易位 ETS 白血病（Translocation ets leukemia，TEL）未作说明的组织;组织;组织 & 涂片融合转录物（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=77039-6

LOINC Copyright

Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.