73750-2

RAI1 gene 17p11.2 deletion and duplication mutation analysis [Identifier] in Blood or Tissue by FISH Nominal

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Term Description

FISH studies are performed using an SMS probe to detect a deletion or duplication within the critical region of the retinoic acid induced 1 (RAI1) gene on chromosome 17p11.2. FISH signal pattern indicating a loss of the RAI1 critical region is consistent with a diagnosis of 17p11.2 deletion (Smith-Magenis) syndrome. Additional signals are consistent with a diagnosis of 17p11.2 duplication (Potocki-Lupski) syndrome. The answer list provided with this code is an example and not meant to include all possible results.

Part Descriptions

LP172693-6 RAI1 gene 17p11.2
The retinoic acid induced 1 (RAI1) gene, located in the 17p11.2 region, is the causative gene for Smith-Magenis syndrome (SMS) and Potocki-Lupski syndrome (PTLS). SMS and PTLS are characterized by multiple congenital anomalies and mental retardation resulting from either a deletion (SMS) or duplication (PTLS) of the 17p11.2 chromosome region. The disorders are diagnosed using a combination of clinically recognized phenotypes and molecular cytogenetic analyses, including fluorescent in situ hybridization (FISH). Clinically, PTLS presents as a milder syndrome than SMS. Source: Regenstrief LOINC, PMID: 18373405

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: RAI1 gene 17p11.2 deletion+duplication:Prid:Pt:Bld/Tiss:Nom:FISH
Long Common Name: RAI1 gene 17p11.2 deletion and duplication mutation analysis [Identifier] in Blood or Tissue by FISH Nominal
Short Name: RAI1 17p11.2 Del+Dup Bld/T FISH
Display Name: RAI1 gene 17p11.2 del and dup mutation analysis FISH Nom (Bld/Tiss)
Consumer Name Alpha Get Info: RAI1 gene 17p11.2 deletion/duplication analysis, Blood or tissue specimen

Part Model Get Info

Component
RAI1 gene 17p11.2 deletion+duplication
LP172737-1
- Analyte
  RAI1 gene 17p11.2 deletion+duplication
  LP172737-1
  - Component Numerator
    RAI1 gene 17p11.2 deletion+duplication
    LP172737-1
    - Component Numerator Core
      RAI1 gene 17p11.2
      LP172693-6
    - 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
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
FISH
LP62864-1

Example Answer List: LL2484-5

Source: Mayo Medical Laboratories

Answer	Code	Score	Answer ID
ish 17p11.2(SMSx2)			LA19936-6

Basic Attributes

Class: MOLPATH.DEL
Type: Laboratory
First Released: Version 2.44
Last Updated: Version 2.61 (MIN)
Order vs. Observation: Both

Language Variants Get Info

Tag	Language	Translation
cs-CZ	Czech (Czechia)	Gen RAI1 17p11.2 delece+duplikace:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Fluorescenční in situ hybridizace (FISH)
el-GR	Greek (Greece)	Γονίδιο RAI1 17p11.2 διαγραφή+διπλασιασμός:Prid:Pt:Αίμα/Ιστός:Nom:Φθορίζουσα υβριδοποίηση in situ Synonyms: MOLPATH MOLPATH.DEL Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο RAI1 διαγραφή διαγραφή+διπλασιασμός διπλασιασμός Ιστός Φθορίζουσα υβριδοποίηση in situ
es-ES	Spanish (Spain)	Gen RAI1 17p11.2 Delección+duplicación:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Hibridación in situ fluoresente (FISH)
es-MX	Spanish (Mexico)	Deleción + duplicación del gen RAI1 17p11.2:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Hibridación fluorescente in situ (FISH)
fr-FR	French (France)	RAI1 gène 17p11.2 délétion+duplication:Identification:Ponctuel:Sang/Tissu:Résultat nominal:FISH
it-IT	Italian (Italy)	RAI1, gene 17p11.2 Delezione+duplicazione:Prid:Pt:Sangue/Tess:Nom:FISH Synonyms: delezione e duplicazione Delezione genetica Gene RAI1 Ibridazione in situ fluorescente (FISH) Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL	Dutch (Netherlands)	RAI1-gen 17p11.2 deletie + duplicatie:identificator:moment:bloed of weefsel:nominaal:FISH Synonyms: RAI1 gen
pl-PL	Polish (Poland)	RAI1 gen 17p11.2 delecja+duplikacja:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:FISH Synonyms: fluorescencyjna hybrydyzacja in situ Gen RAI1 wynik kategorialny
pt-BR	Portuguese (Brazil)	RAI1 gene 17p11.2 deleção+duplicação:Ident:Pt:Sg/Tecido:Nom:FISH
tr-TR	Turkish (Turkey)	RAI1 geni 17p11.2 delesyon+duplikasyon:MevcKimlik:Zmlı:Kan/Dk:Snf:FISH Synonyms: çiftleme
zh-CN	Chinese (China)	RAI1 基因 17p11.2 缺失+重复:存在与否或特征标识:时间点:全血/组织:名义型:FISH Synonyms: DKFZp434A139;KIAA1820;MGC12824;SMCR;SMS;OTTHUMP00000065594;retinoic acid induced 1;视黄酸诱导 1;视黄酸诱导蛋白 1 Fluorescent in situ hybridization;荧光原位杂交全血或组织;血液/组织;血液或组织分子病理学.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失分子病理学;分子病理学试验分类型应答;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;基因丢失血;血液遗传基因;遗传因子;吉恩;生物基因

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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.