81873-2

Chromosome region Xp22.33 AndOr Yp11.32 deletion and duplication mutation analysis in Blood or Tissue by MLPA

Active

Term Description

Detection of deletions or duplications in the Xp22.33 and Yp11.32 regions of the sex chromosomes, which contain the pseudoautosomal region 1 (PAR1) and SHOX gene, by MLPA analysis. This term was created for, but not limited in use to, the submitter's kit, SALSA MLPA P018 SHOX probemix.

Part Description

LP208545-6 Chromosome region Xp22.33 &or Yp11.32
Xp22.33 and Yp11.32 regions of the sex chromosomes contain the pseudoautosomal region 1 (PAR1), a homologous region between the X & Y chromosomes that is paired at male meiosis and undergoes recombination. The PAR1 region contains at least 24 genes, including the SHOX (short stature homeobox-containing) gene. PMID: 22071895 Deletions or duplications in the SHOX gene or its regulatory regions are known to cause disorders associated with short stature, including Leri-Weill dyschondrosteosis (LWD), Langer mesomelic dysplasia (LMD), and Idiopathic short stature (ISS). PMID: 21325865 Source: Regenstrief LOINC

LOINC Names Get Info

Fully-Specified Name: Chromosome region Xp22.33 &or Yp11.32 deletion+duplication:Find:Pt:Bld/Tiss:Doc:MLPA
Long Common Name: Chromosome region Xp22.33 AndOr Yp11.32 deletion and duplication mutation analysis in Blood or Tissue by MLPA
Short Name: Xp22.33 +or Yp11.32 Del+Dup Bld/T MLPA
Display Name: Xp22.33 AndOr Yp11.32 del and dup mutation analysis MLPA Doc (Bld/Tiss)
Consumer Name Alpha Get Info: Xp22.33 andOr Yp11.32 deletion/duplication analysis, Blood or tissue specimen

Part Model Get Info

Component
Chromosome region Xp22.33 &or Yp11.32 deletion+duplication
LP228019-8
- Analyte
  Chromosome region Xp22.33 &or Yp11.32 deletion+duplication
  LP228019-8
  - Component Numerator
    Chromosome region Xp22.33 &or Yp11.32 deletion+duplication
    LP228019-8
    - Component Numerator Core
      Chromosome region Xp22.33 &or Yp11.32
      LP208545-6
    - Component Numerator Core Suffix
      deletion+duplication
      LP136317-7
  - 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
MLPA
LP147267-1

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.DELDUP
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 Xp22.33 a/nebo Yp11.32 delece+duplikace:Nález:Časový bod:Krev/tkáň:Dokument:Multiplexní na ligaci závislá PCR reakce (MPLA)
el-GR	Greek (Greece)	Χρωμοσωμική περιοχή Xp22.33 και/ή Yp11.32 διαγραφή+διπλασιασμός:Εύρεση:Pt:Αίμα/Ιστός:Doc:MLPA Synonyms: Doc MLPA MOLPATH MOLPATH.DELDUP Pt Αίμα Αίμα/Ιστός διαγραφή διαγραφή+διπλασιασμός διπλασιασμός Εύρεση Ιστός Περιοχή Χρωμόσωμα Χρωμοσωμική περιοχή Χρωμοσωμική περιοχή Xp22.33 και/ή Yp11.32
es-ES	Spanish (Spain)	Región cromosómica Xp22.33 y/o Yp11.32 Delección+duplicación:Hallazgo:Punto temporal:Sangre o tejido:Doc:MLPA
es-MX	Spanish (Mexico)	Región cromosómica Xp22.33 AndOr Yp11.32 deleción + duplicación:Hallazgo:Punto temporal:Sangre o tejido:Documento:MLPA
fr-FR	French (France)	Chromosome région Xp22.33 et/où Yp11.32 délétion+duplication:Recherche:Ponctuel:Sang/Tissu:Document:MLPA
it-IT	Italian (Italy)	Regione cromosomica Xp22.33 &or Yp11.32 Delezione+duplicazione:Osservazione:Pt:Sangue/Tess:Doc:MLPA Synonyms: Amplificazione legatura-dipendente multipla della delezione e duplicazione Delezione o duplicazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
pl-PL	Polish (Poland)	Region chromosomu Xp22.33 &lub Yp11.32 delecja+duplikacja:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:MLPA Synonyms: Region chromosomu Xp22.33 i/lub Yp11.32
zh-CN	Chinese (China)	染色体区域 Xp22.33 和或 Yp11.32 缺失+重复:发现:时间点:全血/组织:文档型:多重连接探针扩增技术 Synonyms: multiplex ligation-dependent probe amplification;MLPA;多重连接探针扩增;多重连接酶依赖的探针扩增技术;多重连接依赖型探针扩增技术临床文档型;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;分子病理学试验区;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;瞬间未作说明的组织;组织;组织 & 涂片染色体二体型+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） Xp22.33 和或 Yp11.32 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）血;血液

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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.