81848-4

t(1;13)(p36.13;q14.1)(PAX7,FOXO1) and t(2;13)(q36.1;q14.4)(PAX3,FOXO1) fusion transcript in Bone marrow by Molecular genetics method

Active

Term Description

Most alveolar rhabdomyosarcoma (ARMS) cases contain one of two recurrent chromosomal translocations: t(2;13)(q35;q14)(PAX3,FOXO1) or t(1;13)(p36;q14)(PAX7,FOXO1). PMID: 22710712 Genetic subtyping has identified PAX7-FOXO1, PAX3-FOXO1, and fusion-negative subsets of ARMS. PMCID: PMC3564712

LOINC Names Get Info

Fully-Specified Name: t(1;13)(p36.13;q14.1)(PAX7,FOXO1) & t(2;13)(q36.1;q14.4)(PAX3,FOXO1) fusion transcript:Find:Pt:Bone mar:Doc:Molgen
Long Common Name: t(1;13)(p36.13;q14.1)(PAX7,FOXO1) and t(2;13)(q36.1;q14.4)(PAX3,FOXO1) fusion transcript in Bone marrow by Molecular genetics method
Short Name: t(1;13)(p36;q14)+t(2;13)(q36;q14) Mar
Display Name: t(1;13)(p36.13;q14.1)(PAX7,FOXO1) and t(2;13)(q36.1;q14.4)(PAX3,FOXO1) fusion transcript Molgen Doc (BM)
Consumer Name Alpha Get Info: t(1;13)(p36.13;q14.1)(PAX7,FOXO1) and T(2;13)(q36.1;q14.4)(PAX3,FOXO1) fusion transcript analysis, Bone marrow

Part Model Get Info

Component
t(1;13)(p36.13;q14.1)(PAX7,FOXO1) & t(2;13)(q36.1;q14.4)(PAX3,FOXO1) fusion transcript
LP229721-8
- Analyte
  t(1;13)(p36.13;q14.1)(PAX7,FOXO1) & t(2;13)(q36.1;q14.4)(PAX3,FOXO1) fusion transcript
  LP229721-8
  - Component Numerator
    t(1;13)(p36.13;q14.1)(PAX7,FOXO1) & t(2;13)(q36.1;q14.4)(PAX3,FOXO1) fusion transcript
    LP229721-8
    - Component Numerator Core
      t(1;13)(p36.13;q14.1)(PAX7,FOXO1) & t(2;13)(q36.1;q14.4)(PAX3,FOXO1)
      LP207871-7
    - 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
Bone mar
LP7410-6
- System Core
  Bone mar
  LP7410-6
- Super System
  NULL
Scale
Doc
LP32888-7
Method
Molgen
LP6404-0

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 2.56
Last Updated: Version 2.65 (MIN)
Change Reason: Updated System from "Bone marrow" to "Bone mar" to be consistent with other laboratory bone marrow terms.; Updated the Property and Scale from dashes (-) to "Find" and "Doc" based on the current LOINC naming model for genetic test reports and to avoid confusion with how we define most panels (with dashes in the Property & Scale).
Order vs. Observation: Both

Language Variants Get Info

Tag	Language	Translation
cs-CZ	Czech (Czechia)	Fúzní transkript t(1;13)(p36.13;q14.1)(PAX7,FOXO1) & fúzní transkript t(2;13)(q36.1;q14.4)(PAX3,FOXO1):Nález:Časový bod:Kostní dřeň:Dokument:Molekulární genetika
el-GR	Greek (Greece)	t(1;13)(p36.13;q14.1)(PAX7,FOXO1) & t(2;13)(q36.1;q14.4)(PAX3,FOXO1) μεταγραφή συγχώνευσης:Εύρεση:Pt:Μυελός των οστών:Doc:Μοριακή γενετική Synonyms: Doc MOLPATH MOLPATH.TRNLOC Pt t(1;13)(p36.13;q14.1)(PAX7,FOXO1) t(1;13)(p36.13;q14.1)(PAX7,FOXO1) & t(2;13)(q36.1;q14.4)(PAX3,FOXO1) t(2;13)(q36.1;q14.4)(PAX3,FOXO1) Εύρεση μεταγραφή συγχώνευσης Μοριακή γενετική Μυελός των οστών Οστό
es-ES	Spanish (Spain)	t(1;13)(p36.13;q14.1)(PAX7,FOXO1) & t(2;13)(q36.1;q14.4)(PAX3,FOXO1) Tránscritos de fusión:Hallazgo:Punto temporal:Médula ósea:Doc:Genética molecular
es-MX	Spanish (Mexico)	t (1; 13) (p36.13; q14.1) (PAX7, FOXO1) & t (2; 13) (q36.1; q14.4) (PAX3, FOXO1) transcripción de fusión:Hallazgo:Punto temporal:Médula ósea:Documento:Genética molecular
fr-FR	French (France)	t(1;13)(p36.13;q14.1)(PAX7,FOXO1) et t(2;13)(q36.1;q14.4)(PAX3,FOXO1) transcript de fusion:Recherche:Ponctuel:Moelle osseuse:Document:Biologie moléculaire
fr-CA	French (Canada)	t(1;13)(p36.13;q14.1)(PAX7,FOXO1) & t(2;13)(q36.1;q14.4)(PAX3,FOXO1) transcrit de fusion:Observation:Temps ponctuel:Moelle osseuse:Document:Molgen
it-IT	Italian (Italy)	t(1,13)(p36.13,q14.1)(PAX7,FOXO1) & t(2,13)(q36.1,q14.4)(PAX3,FOXO1), trascritto di fusione:Osservazione:Pt:Mid oss:Doc:Molgen Synonyms: Genetica molecolare Midollo osseo Osservazione Patologia molecolare Punto nel tempo (episodio) Traslocazione genetica
nl-NL	Dutch (Netherlands)	t(1;13)(p36.13;q14.1)(PAX7,FOXO1) & t(2;13)(q36.1;q14.4)(PAX3,FOXO1) fusietranscript:bevinding:moment:beenmerg:document:moleculair genetisch onderzoek Synonyms: molgen
zh-CN	Chinese (China)	t(1;13)(p36.13;q14.1)(PAX7,FOXO1) 与 t(2;13)(q36.1;q14.4)(PAX3,FOXO1) 融合转录物:发现:时间点:骨髓:文档型:分子遗传学类实验室方法 Synonyms: Ⅰ Ⅱ FKH FKH1 FOXO1A I II PAX3 基因 PAX7 基因 T(1,13)(PAX7,FKHR) 基因易位;T(1,13)(PAX7,FKHR) 易位 T(2,13)(PAX3,FKHR) 基因易位;T(2,13)(PAX3,FKHR) 易位临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书分子病理学.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;分子病理学试验分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应叉头型基因 O1A 叉头框 O1A 叉头框 O1A（Forkhead box O1A，FOXO1A）叉头盒 O1A 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;结论成对域基因 HUP1 成对框同源异型基因 3 成对框同源异型基因 7 成对框基因 3 成对框基因 7 成对盒同源异型基因 3 成对盒同源异型基因 7 成对盒基因 3 成对盒基因 7 成对结构域基因 HUP1 时刻;随机;随意;瞬间易位(1;13)(p36.13;q14.1)(PAX7,FOXO1) 与易位(2;13)(q36.1;q14.4)(PAX3,FOXO1) 横纹肌肉瘤之中的叉头型基因横纹肌肉瘤之中的叉头框横纹肌肉瘤之中的叉头盒横纹肌肉瘤叉头型基因横纹肌肉瘤叉头框横纹肌肉瘤叉头盒融合转录物（转录本、转录产物、转录子、转录）;融合基因转录本;融合转录配对域基因 HUP1 配对框同源异型基因 3 配对框同源异型基因 3（Paired box homeotic gene 3，PAX3）配对框同源异型基因 7 配对框同源异型基因 7（Paired box homeotic gene 7，PAX7）配对框基因 3 配对框基因 3（Paired box gene 3，PAX3）配对框基因 7 配对框基因 7（Paired box gene 7，PAX7）配对盒同源异型基因 3 配对盒同源异型基因 7 配对盒基因 3 配对盒基因 7 配对结构域基因 HUP1 配对结构域基因 HUP1（Paired domain gene HUP1）骨骼;骨头髓

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

CodeSystem lookup: https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=81848-4

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.