82251-0

Chromosome 3 and 7 and 17 aneuploidy and chromosome region 9p21 deletion in Urine by FISH

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Part Description

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: Chromosome 3 & 7 & 17 aneuploidy & chromosome region 9p21 deletion:Find:Pt:Urine:Doc:FISH
Long Common Name: Chromosome 3 and 7 and 17 aneuploidy and chromosome region 9p21 deletion in Urine by FISH
Short Name: Chr 3+7+17 aneu + 9p21 Del Ur FISH
Display Name: Chr 3 and 7 and 17 aneuploidy and Chr region 9p21 del FISH Doc (U)
Consumer Name Alpha Get Info: Chromosome 3 and 7 and 17 aneuploidy and Chromosome region 9p21 deletion analysis, Urine

Part Model Get Info

Component
Chromosome 3 & 7 & 17 aneuploidy & chromosome region 9p21 deletion
LP228005-7
- Analyte
  Chromosome 3 & 7 & 17 aneuploidy & chromosome region 9p21 deletion
  LP228005-7
  - Component Numerator
    Chromosome 3 & 7 & 17 aneuploidy & chromosome region 9p21 deletion
    LP228005-7
    - Component Numerator Core
      Chromosome 3 & 7 & 17 aneuploidy & chromosome region 9p21
      LP217236-1
    - Component Numerator Core Suffix
      deletion
      LP29253-9
  - 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
Urine
LP7681-2
- System Core
  Urine
  LP7681-2
- 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.MISC
Type: Laboratory
First Released: Version 2.56
Last Updated: Version 2.73 (MIN)
Order vs. Observation: Both
Common Test Rank Get Info: 9497

Language Variants Get Info

Tag	Language	Translation
cs-CZ	Czech (Czechia)	Chromozom 3 a 7 a 17 aneuploidie a chromozom oblast 9p21 delece:Nález:Časový bod:Moč:Dokument:Fluorescenční in situ hybridizace (FISH)
el-GR	Greek (Greece)	Ανευπλοειδία χρωμοσωμάτων 3 & 7 & 17 & χρωμοσωμική περιοχή 9p21 διαγραφή:Εύρεση:Pt:Ούρα:Doc:Φθορίζουσα υβριδοποίηση in situ Synonyms: Doc MISC MOLPATH MOLPATH.MISC Pt Ανευπλοειδία χρωμοσωμάτων 3 & 7 & 17 & χρωμοσωμική περιοχή 9p21 διαγραφή Εύρεση Ούρα Περιοχή Φθορίζουσα υβριδοποίηση in situ Χρωμόσωμα Χρωμοσωμική περιοχή
es-ES	Spanish (Spain)	Región cromosómica 9p21 y aneuploidía de los cromosomas 3, 7 y 17 Deleción:Hallazgo:Punto temporal:Orina:Doc:Hibridación in situ fluoresente (FISH)
es-MX	Spanish (Mexico)	Aneuploidía de los cromosomas 3 y 7 y 17 y deleción de la región del cromosoma 9p21:Hallazgo:Punto temporal:Orina:Documento:Hibridación fluorescente in situ (FISH)
fr-FR	French (France)	Chromosome 3 et 7 et 17 aneuploïdie et chromosome région 9p21 délétion:Recherche:Ponctuel:Urine:Document:FISH
it-IT	Italian (Italy)	Cromosoma 3 & 7 & 17 & regione cromosomica 9p22 Delezione:Osservazione:Pt:Urine:Doc:FISH Synonyms: Aneuploidia del cromosoma 3 e 7 e 17 e regione cro Ibridazione in situ fluorescente (FISH) Miscellanea Miscellanea geni Osservazione Patologia molecolare Punto nel tempo (episodio)
nl-NL	Dutch (Netherlands)	aneuploïdie van chromosoom 3 & 7 & 17 & chromosoomgebied 9p21 deletie:bevinding:moment:urine:document:FISH
pl-PL	Polish (Poland)	Aneuploidia chromosomów 3 & 7 & 17 & region chromosomowy 9p21 delecja:stwierdzenie:punkt w czasie:mocz:dokument:FISH Synonyms: Aneuploidia chromosomów 3, 7,17 oraz delecja regionu chromosomowego 9p21 Aneuploidia chromosomów 3,7,17 oraz region chromosomowy 9p21 fluorescencyjna hybrydyzacja in situ
zh-CN	Chinese (China)	染色体 3 与 7 与 17 非整倍体性与染色体区域 9p21 缺失:发现:时间点:尿液:文档型:FISH Synonyms: Ⅲ Fluorescent in situ hybridization;荧光原位杂交 III 三临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书分子病理学.杂项;分子病理学试验.杂项;分子病理学试验类.其他分子病理学;分子病理学试验区;地区;局部叁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;结论尿;小便;下泉时刻;随机;随意;瞬间杂项;杂项类;杂项试验染色体 3 与 7 与 17 非整倍体性（非整倍体型、非整倍体、异倍体、非整倍性、异倍性、非整倍态、异倍体性）与染色体区域（染色体部位、染色体区、染色体区带、染色体部） 9p21;3 号与 7 号与 17 号非整倍体性与染色体区域 9p21 染色体二体型+染色体三体型染色体缺失;染色体区带缺失;基因缺失;缺损;基因缺损;基因删除;删除;基因丢失染色体部位;染色体区;染色体区带;染色体部;染色体区域（染色体部位、染色体区、染色体区带、染色体部）

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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.