61106-1

16p11.2 chromosome region deletion and duplication mutation analysis [Identifier] in Blood or Tissue by Molecular genetics method Nominal

Active

Part Description

LP102288-0 16p11.2 chromosome region
16p11.2 deletion syndrome is a disorder caused by a deletion of a small piece of chromosome 16. The deletion occurs near the middle of the chromosome at a location designated p11.2. People with 16p11.2 deletion syndrome usually have developmental delay and intellectual disability. Source: National Library of Medicine, NLM

LOINC Names Get Info

Fully-Specified Name: 16p11.2 chromosome region deletion+duplication:Prid:Pt:Bld/Tiss:Nom:Molgen
Long Common Name: 16p11.2 chromosome region deletion and duplication mutation analysis [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Short Name: 16p11.2 chrom Del+Dup Bld/T
Display Name: 16p11.2 chromosome region del and dup mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info: 16p11.2 chromosome region deletion/duplication analysis, Blood or tissue specimen

Part Model Get Info

Component
16p11.2 chromosome region deletion+duplication
LP227499-3
- Analyte
  16p11.2 chromosome region deletion+duplication
  LP227499-3
  - Component Numerator
    16p11.2 chromosome region deletion+duplication
    LP227499-3
    - Component Numerator Core
      16p11.2 chromosome region
      LP102288-0
    - 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
Prid
LP6850-4
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
Nom
LP7750-5
Method
Molgen
LP6404-0

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 2.34
Last Updated: Version 2.50 (MIN)
Order vs. Observation: Both

Language Variants Get Info

Tag	Language	Translation
cs-CZ	Czech (Czechia)	Chromozom oblast 16p11.2 delece+duplikace:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GR	Greek (Greece)	Χρωμοσωμική περιοχή 16p11.2 διαγραφή+διπλασιασμός:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός διαγραφή διαγραφή+διπλασιασμός διπλασιασμός Ιστός Μοριακή γενετική Περιοχή Χρωμόσωμα Χρωμοσωμική περιοχή Χρωμοσωμική περιοχή 16p11.2
es-ES	Spanish (Spain)	Deleción + duplicación de la región cromosómica 16p.11.2 Delección+duplicación:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX	Spanish (Mexico)	Deleción + duplicación de la región cromosómica 16p11.2:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR	French (France)	Chromosome région 16p11.2 délétion+duplication:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT	Italian (Italy)	16p.11.2, regione cromosomica",Regione cromosomica 16p.11.2,06/08/2026 23:57:37 Delezione+duplicazione:Prid:Pt:Sangue/Tess:Nom:Molgen Synonyms: delezione e duplicazione Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL	Dutch (Netherlands)	16p.11.2 chromosoomgebied deletie + duplicatie:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek Synonyms: molgen
pl-PL	Polish (Poland)	Region chromosomowy 16p11.2 delecja+duplikacja:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna Synonyms: diagnostyka molekularna wynik kategorialny
pt-BR	Portuguese (Brazil)	16p.11.2 região do cromossomo deleção+duplicação:Ident:Pt:Sg/Tecido:Nom:Genética molecular
ru-RU	Russian (Russian Federation)	16p.11.2 хромосома участок делеция+дупликация:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TR	Turkish (Turkey)	16p.11.2 kromozom bölgesi delesyon+duplikasyon:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen Synonyms: çiftleme
zh-CN	Chinese (China)	16p11.2 染色体区域缺失+重复:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法 Synonyms: 16p11.2 染色体区域（染色体部位、染色体区、染色体区带、染色体部）全血或组织;血液/组织;血液或组织分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变分子病理学;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;聚合酶链式反应分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答区;地区;局部基因复制;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+重复存在;存在与否;特征标识;身份;身份标识时刻;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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