Version 2.79

Term Description

Approximately 70% of cases of Prader-Willi syndrome (PWS) are caused by paternal deletion of the 15q11-q13 region. This region includes the small nuclear ribonucleoprotein polypeptide N (SNRPN) gene. This code is based on, but not limited to, Kreatech Diagnostic's MD Prader-Willi SNRPN (15q11) region probe to detect copy numbers of the SNRPN gene region at 15q11. Labs may report the X number of cells out of Y number that have the probe deletion (or duplication), which is usually 100% if present (i.e. 20 out of 20, 100%). Result are reported in ISCN (International System for Human Cytogenetic Nomenclature) format. This test does not detect uniparental disomy (UPD, LOINC 34503-3), which may also cause PWS (and Angelman syndrome, AS).

Part Descriptions

LP157727-1   SNRPN gene 15q11
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are rare genetic disorders in which several genes (e.g. SNRPN, UBE3A) on chromosome 15(q11-13) are deleted or unexpressed. Alterations in the PWS/AS region (15q11-13) may occur by several genetic mechanisms, including chance mutation, uniparental disomy, sporadic mutations, chromosome translocations, and gene deletions. PWS and AS are some of the first reported instances of imprinting disorders in humans. In PWS, the maternally inherited copies of genes are virtually silent due to imprinting. Only the paternal copies of the genes are expressed. Therefore, PWS results from the loss of paternal copies of this region. Alternately, AS is caused by deletion or inactivation of genes on the maternally inherited chromosome 15 while the paternal copy, which may be of normal sequence, is imprinted and therefore silenced.

Characteristic features of PWS include diminished fetal activity, obesity, hypotonia, developmental delay, short stature, hypogonadotropic hypogonadism, strabismus, and small hands and feet. AS is characterized by intellectual and developmental disability, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling, and usually a happy demeanor. 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 , Prader-Willi Syndrome (PWS) and Angleman Syndrome (AS), Genomic Imprinting

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

Fully-Specified Name

Component
SNRPN gene 15q11 deletion+duplication
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
FISH

Additional Names

Long Common Name
SNRPN gene 15q11 deletion and duplication mutation analysis [Identifier] in Blood or Tissue by FISH Nominal
Short Name
SNRPN 15q11 Del+Dup Bld/T FISH
Display Name
SNRPN gene 15q11 del and dup mutation analysis FISH Nom (Bld/Tiss)
Consumer Name Alpha Get Info
SNRPN gene 15q11 deletion/duplication analysis, Blood or tissue specimen

Example Answer List: LL2351-6

Source: Regenstrief LOINC
Answer Code Score Answer ID
15q11-13(SNRPNx2)

Normal result (no deletion of SNRPN gene on 15q11)

 LA19537-2
del(15)(q11-13)(SNRPN-)

Pathologic result (deletion of SNRPN gene on 15q11)

 LA19538-0

Basic Attributes

Class
MOLPATH.DEL
Type
Laboratory
First Released
Version 2.42
Last Updated
Version 2.61 (MIN)
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Γονίδιο SNRPN 15q11 διαγραφή+διπλασιασμός:Prid:Pt:Αίμα/Ιστός:Nom:Φθορίζουσα υβριδοποίηση in situ
Synonyms: Prid Γονίδιο Γονίδιο SNRPN 15q11
es-ES Spanish (Spain) Gen SNRPN 15Q11 Delección+duplicación:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Hibridación in situ fluoresente (FISH)
es-MX Spanish (Mexico) Deleción + duplicación del gen SNRPN 15q11:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Hibridación fluorescente in situ (FISH)
fr-FR French (France) SNRPN gène délétion+duplication 15q11:Identification:Ponctuel:Sang/Tissu:Résultat nominal:FISH
it-IT Italian (Italy) SNRPN, gene 15q11 Delezione+duplicazione:Prid:Pt:Sangue/Tess:Nom:FISH
Synonyms: delezione e duplicazione Delezione genetica Gene SNRPN 15q11 Ibridazione in situ fluorescente (FISH) Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) SNRPN-gen 15q11 deletie + duplicatie:identificator:moment:bloed of weefsel:nominaal:FISH
pt-BR Portuguese (Brazil) SNRPN gene 15q11 deleção+duplicação:Ident:Pt:Sg/Tecido:Nom:FISH
tr-TR Turkish (Turkey) SNRPN geni 15q11 delesyon+duplikasyon:MevcKimlik:Zmlı:Kan/Dk:Snf:FISH
zh-CN Chinese (China) SNRPN 基因 15q11 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: Fluorescent in situ hybridization;荧光原位杂交 small nuclear ribonucleoprotein polypeptide N;SNRPN;小核核糖核蛋白多肽 N 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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