86611-1

Chromosome analysis in Amniotic fluid or Chorionic villus sample by Microarray

Active

Term Description

Chromosome analysis results by microarray can detect aneuploidy, other structural variations, microdeletions and microduplications. This term was created for, but not limited in use to CytoScan HD Array by ThermoFisher Scientific. The test detects high resolution copy numbers across the genome that provide allelic imbalance information from single nucleotide polymorphisms.

Part Description

LP111376-2 Chromosome analysis
Genetic disorders in humans are often a result of unbalanced chromosome abnormalities with net gain or loss of genetic material. Early technologies for chromosome analysis involved examining the banding patterns to assess chromosome deletion and/or duplication, known as a karyotype. Karotyping does not reveal microdeletions. Newer technologies have emerged including microarray, which includes both array comparative genomic hybridization (arrCGH) and SNP-based microarray, fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR). Microarray can detect aneuploidies, deletions, duplications, and amplifications of any locus within the array. It can identify genetic aberrations that include trisomy 13, trisomy 18 and trisomy 21. http://www.nature.com/scitable/topicpage/microarray-based-comparative-genomic-hybridization-acgh-45432 FISH is able to demonstrate duplications, deletions, translocations and amplifications of DNA. It is able to assess multiple genetic anomalies using different fluorescent dyes and multiple probes. Among other uses, FISH can detect HER-2/neu to determine if a patient would benefit from treatment with Herceptin and identify BCR-ABL in a patient with chronic myelogenous leukemia to determine if imatinib would be an effective treatment.( https://labtestsonline.org/understanding/features/methods/start/4/) PCR is an analysis that exponentially amplifies certain parts of DNA which makes that DNA recognizable and quantifiable. PCR is used to assist in gene sequencing, identifying and quantifying pathogens and in forensic studies. (http://www.yourgenome.org/facts/what-is-pcr-polymerase-chain-reaction) Source: Regenstrief LOINC

LOINC Names Get Info

Fully-Specified Name: Chromosome analysis:Find:Pt:Amnio fld/CVS:Doc:Microarray
Long Common Name: Chromosome analysis in Amniotic fluid or Chorionic villus sample by Microarray
Short Name: Chrom analy Amn/CVS Microarray
Display Name: Chr analysis Microarray Doc (Amnio fld/CVS)
Consumer Name Alpha Get Info: Chromosome analysis, Amnio Fld/CVS

Part Model Get Info

Component
Chromosome analysis
LP111376-2
- Analyte
  Chromosome analysis
  LP111376-2
  - Component Numerator
    Chromosome analysis
    LP111376-2
    - Component Numerator Core
      Chromosome analysis
      LP111376-2
    - Component Numerator Core Suffix
      NULL
  - 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
Amnio fld/CVS
LP185743-4
- System Core
  Amnio fld/CVS
  LP185743-4
- Super System
  NULL
Scale
Doc
LP32888-7
Method
Microarray
LP250859-8

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
Type: Laboratory
First Released: Version 2.61
Last Updated: Version 2.65 (MIN)
Order vs. Observation: Both

Language Variants Get Info

Tag	Language	Translation
cs-CZ	Czech (Czechia)	Chromozomální analýza:Nález:Časový bod:Amniová tekutina/choriový klk:Dokument:Microarray
el-GR	Greek (Greece)	Ανάλυση χρωμοσωμάτων:Εύρεση:Pt:Αμνιακό υγρό/ΕΝΥ:Doc:Μικροσυστοιχία Synonyms: Doc MOLPATH Pt Αμνιακό υγρό Αμνιακό υγρό/ΕΝΥ Ανάλυση χρωμοσωμάτων Βιοψία χοριακής λάχνης Εύρεση Μικροσυστοιχία Χρωμόσωμα
es-ES	Spanish (Spain)	analisis del cromosoma:Hallazgo:Punto temporal:Líquido amniótico o muestra de vellosidades coriónicas:Doc:Micromatriz
es-MX	Spanish (Mexico)	Análisis de cromosomas:Hallazgo:Punto temporal:Muestra de líquido amniótico o vellosidades coriónicas:Documento:Microarray
fr-FR	French (France)	Analyse chromosome:Recherche:Ponctuel:Liquide amniotique/Villosités choriales:Document:Microarray
it-IT	Italian (Italy)	Analisi cromosomica:Osservazione:Pt:Liquido amniotico/Villi coriali, prelievo:Doc:Microarray Synonyms: Campione di villi coriali Liquido amniotico Osservazione Patologia molecolare Prelievo del liquido amniotico o dei villi coriali Punto nel tempo (episodio)
pl-PL	Polish (Poland)	Badanie chromosomów:stwierdzenie:punkt w czasie:próbka płynu owodniowego lub kosmka kosmówki:dokument:mikromacierz Synonyms: Kariotypowanie
zh-CN	Chinese (China)	染色体分析:发现:时间点:羊水/绒毛膜绒毛样本:文档型:微阵列 Synonyms: 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;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;结论微矩阵;微阵列芯片;微阵列基因芯片时刻;随机;随意;瞬间染色体二体型+染色体三体型绒毛膜绒毛标本;绒膜绒毛标本;绒膜绒毛样本羊水（羊膜水、胎水）或绒毛膜绒毛样本（绒毛膜绒毛标本、绒膜绒毛标本、绒膜绒毛样本、CVS）羊膜水;胎水

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

CodeSystem lookup: https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=86611-1

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.