81850-0

Chromosome region 11p15 methylation and deletion+duplication in Amniotic fluid by Molecular genetics method

Active

Term Description

The methylation status and copy numbers of the 11p15 chromosome region can be determined by various methods, including methylation-specific PCR and multiplex ligation-dependent probe amplification (MS-MLPA). This test is performed to detect causes of Beckwith-Wiedemann Syndrome (BWS) and Russell-Silver Syndrome (RSS).

Part Description

LP207873-3 Chromosome region 11p15
The chromosome 11p15 region contains a large cluster of imprinted genes, including H19 (maternally expressed), KCNQ1OT1 (paternally expressed), IGF2 (paternally expressed), and CDKN1C (maternally expressed). Expression of these genes is controlled by 2 imprinting centers (IC), IC1 and IC2. Genetic or epigenetic alterations within the genes or the imprinting centers of the 11p15 region cause Beckwith-Wiedemann syndrome (BWS), a clinically heterogeneous overgrowth syndrome associated with neonatal hypoglycemia, congenital malformations, and an increased risk for embryonal tumor development. The clinical presentation of BWS is dependent on which genes are involved.[NCBI Books: NBK1394] [OMIM: 130650] Alterations in the 11p15 chromosome region also cause Russell-Silver syndrome (RSS), a genetically heterogeneous disorder characterized by intrauterine and postnatal growth retardation, characteristic facies, and asymmetry of the face, body, and/or extremities.[OMIM: 180860] Hypomethylation of the paternal IC1 is identified in 35%-50% of individuals with RSS.[NCBI Books: NBK1324] Source: Regenstrief LOINC

LOINC Names Get Info

Fully-Specified Name: Chromosome region 11p15 methylation & deletion+duplication:Find:Pt:Amnio fld:Doc:Molgen
Long Common Name: Chromosome region 11p15 methylation and deletion+duplication in Amniotic fluid by Molecular genetics method
Short Name: Chr 11p15 Methyl + Del+Dup Amn
Display Name: 11p15 methylation and del+dup Molgen Doc (Amn fld)
Consumer Name Alpha Get Info: 11p15 methylation and deletion/duplication analysis, Amniotic fluid

Part Model Get Info

Component
Chromosome region 11p15 methylation & deletion+duplication
LP228006-5
- Analyte
  Chromosome region 11p15 methylation & deletion+duplication
  LP228006-5
  - Component Numerator
    Chromosome region 11p15 methylation & deletion+duplication
    LP228006-5
    - Component Numerator Core
      Chromosome region 11p15
      LP207873-3
    - Component Numerator Core Suffix
      methylation & deletion+duplication
      LP207898-0
  - 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
Amnio fld
LP7000-5
- System Core
  Amnio fld
  LP7000-5
- 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
Type: Laboratory
First Released: Version 2.56
Last Updated: Version 2.65 (MIN)
Order vs. Observation: Both

Language Variants Get Info

Tag	Language	Translation
cs-CZ	Czech (Czechia)	Chromozom oblast 11p15 methylace & delece+duplikace:Nález:Časový bod:Amniová tekutina:Dokument:Molekulární genetika
el-GR	Greek (Greece)	Χρωμοσωμική περιοχή 11p15 μεθυλίωση & διαγραφή+διπλασιασμός:Εύρεση:Pt:Αμνιακό υγρό:Doc:Μοριακή γενετική Synonyms: Doc MOLPATH Pt Αμνιακό υγρό διαγραφή διαγραφή+διπλασιασμός διπλασιασμός Εύρεση μεθυλίωση & διαγραφή+διπλασιασμός Μοριακή γενετική Περιοχή Χρωμόσωμα Χρωμοσωμική περιοχή Χρωμοσωμική περιοχή 11p15
es-ES	Spanish (Spain)	Región cromosómica 11p15 Deleción+duplicación y metilación:Hallazgo:Punto temporal:Fluido Ammiótico:Doc:Genética molecular
es-MX	Spanish (Mexico)	Metilación y deleción + duplicación de la región cromosómica 11p15:Hallazgo:Punto temporal:Líquido amniótico:Documento:Genética molecular
fr-FR	French (France)	Chromosome région 11p15 méthylation et délétion+duplication:Recherche:Ponctuel:Liquide amniotique:Document:Biologie moléculaire
it-IT	Italian (Italy)	Regione cromosomica 11p15 metilazione & delezione+duplicazione:Osservazione:Pt:Liquido amniotico:Doc:Molgen Synonyms: delezione e duplicazione Genetica molecolare Liquido amniotico Osservazione Patologia molecolare Punto nel tempo (episodio)
nl-NL	Dutch (Netherlands)	chromosoomgebied 11p15 methylatie & deletie + duplicatie:bevinding:moment:vruchtwater:document:moleculair genetisch onderzoek Synonyms: molgen
pl-PL	Polish (Poland)	Region chromosomowy 11p15 metylacja i delecja+duplikacja:stwierdzenie:punkt w czasie:płyn owodniowy:dokument:genetyka molekularna Synonyms: diagnostyka molekularna Metylacja, delecja oraz duplikacja regionu chromosomowego 11p15
zh-CN	Chinese (China)	染色体区域 11p15 甲基化与缺失+重复:发现:时间点:羊水:文档型:分子遗传学类实验室方法 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;聚合酶链式反应区;地区;局部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;结论基因复制;基因重复;重复基因缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）+重复（基因重复）;基因缺失+重复时刻;随机;随意;瞬间染色体二体型+染色体三体型染色体区域（染色体部位、染色体区、染色体区带、染色体部） 11p15 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）甲基化（甲基化反应、甲基化作用）与基因缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）+重复（基因重复）羊膜水;胎水

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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.