Version 2.78

Term Description

The number of cycles at which the SNM1 gene was detected using real-time PCR. If the maximum number of cycles is reached without detection of the gene, this indicates the absence of SNM1 and requires follow-up evaluation for spinal muscular atrophy (SMA).
Source: Regenstrief LOINC

Part Description

LP33177-4   SMN1 gene
The SMN1 gene (survival of motor neuron 1, telomeric) [HGNC Gene ID:11117] is located on chromosome 5q13.2. This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. However, mutations in this gene, the telomeric copy, are associated with spinal muscular atrophy; mutations in the centromeric copy do not lead to disease. The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2014] [NCBI Gene ID:6606] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
SMN1 gene
Property
ThreshNum
Time
Pt
System
Bld.dot
Scale
Qn
Method
Probe.amp.tar

Additional Names

Short Name
SMN1 gene Ct DBS Qn NAA+probe
Display Name
SMN1 gene NAA+probe (DBS) [ThreshNum]
Consumer Name Alpha Get Info
SMN1 gene, Dried blood spot

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.66
Last Updated
Version 2.66
Order vs. Observation
Both

Member of these Panels

LOINC Long Common Name
104191-2 Guanidinoacetate methyltransferase (GAMT) deficiency newborn screening panel
54089-8 Newborn screening panel American Health Information Community (AHIC)
92005-8 Spinal muscular atrophy newborn screening panel

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen SMN1:ThreshNnum:Punto temporal:gota de sangre (papel de filtro):Qn:Sonda con amplificación dirigida
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Gen SMN1:ThreshNum:Punto temporal:DBS:Cuantitativo:Amplificación de ácidos nucleicos con detección de sonda
fr-FR French (France) SMN1 gène:Cycle seuil:Ponctuel:Sang buvard:Numérique:PCR amplification de cible
it-IT Italian (Italy) SMN1, gene:Thresnum:Pt:Sangue.su carta da filtro:Qn:Sonda.amp.tar
Synonyms: Gene SMN1 Limite di soglia Patologia molecolare Punto nel tempo (episodio) Sangue Sonda con amplificazione Sonda con amplificazione del target Sonda di DNA Spot sangue secco
nl-NL Dutch (Netherlands) SMN1-gen:drempelwaarde nummer:moment:gedroogde bloedspot:kwantitatief:probe-detectie
Synonyms: probe.amp.tar SMN1 gen
tr-TR Turkish (Turkey) SMN1 geni:EşikDeğ:Zmlı:Kan.nokta:Kant:Prob.amf.hdf
Synonyms: Eşik Değer
zh-CN Chinese (China) SMN1 基因:阈值循环圈数:时间点:全血.斑点:定量型:探针法.基因扩增.靶向
Synonyms: BCD541;Gemin 1;Kugelberg-Welander 病;SMA1;SMA2;SMA3;SMN;SMN 蛋白基因;SMV;Werdnig-Hoffmann 病;少年型家族性进行性脊肌萎缩症;少年型脊肌萎缩症;脊肌萎缩症;运动神经元存活蛋白基因;运动神经元生存蛋白基因 借助扩增的探针方法;借助扩增的探针法;探针法.扩增 借助靶向扩增的探针方法;借助靶向扩增的探针法;探针法.扩增.靶向 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 分子病理学;分子病理学试验 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 扩增型 扩增性 时刻;随机;随意;瞬间 界值数;界限数;阀值数;临界值数;阈值循环数;阈值数;达到阈值时的循环圈数;荧光信号到达设定阈值时所经历的循环数;Ct 值;Cycle threshold;循环阈值 经过扩增的 脱氧核糖核酸探针 血;血液 遗传基因;遗传因子;吉恩;生物基因

Example Units

Unit Source
{Ct_value} Example UCUM Units

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=92002-5