92005-8
Spinal muscular atrophy newborn screening panel
Active
92004-1 Spinal muscular atrophy newborn screen interpretation
Fully-Specified Name
- Component
- Spinal muscular atrophy
- Property
- Imp
- Time
- Pt
- System
- Bld.dot
- Scale
- Nom
- Method
Additional Names
- Short Name
- SMA DBS-Imp
- Display Name
- Spinal muscular atrophy (DBS) [Interp]
- Consumer Name Alpha Get Info
- Spinal muscular atrophy, Dried blood spot
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.66
- Last Updated
- Version 2.66
- Order vs. Observation
- Observation
Preferred Answer List LL840-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| In range | LA18592-8 | ||
| Borderline | LA4259-3 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 | ||
| Out of range | LA18593-6 | ||
| Out of range requiring further dried blood spot testing for at least one condition | LA12430-7 | ||
| Out of range requiring immediate referral | LA25817-0 | ||
| Out of range requiring immediate second-tier testing for at least one condition | LA12431-5 | ||
| Out of range requiring deferred follow-up for at least one condition | LA18594-4 | ||
| One or more tests pending | LA16204-2 | ||
| Specimen unsatisfactory for at least one condition | LA16205-9 |
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-MX | Spanish (Mexico) | Atrofia muscular en la columna: |
| es-ES | Spanish (Spain) | Atrofia muscular en la columna: |
| fr-FR | French (France) | Atrophie musculaire spinale: |
| it-IT | Italian (Italy) | Atrofia muscolare spinale: Synonyms: Impressione/interpretazione di studio Patologia molecolare Punto nel tempo (episodio) Sangue SMA Spot sangue secco |
| zh-CN | Chinese (China) | 脊髓性肌萎缩: Synonyms: 全血斑点(滤纸); |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
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92003-3 Spinal muscular atrophy newborn screening comment-discussion
Fully-Specified Name
- Component
- Spinal muscular atrophy newborn screening comment-discussion
- Property
- Txt
- Time
- Pt
- System
- Bld.dot
- Scale
- Nar
- Method
Additional Names
- Short Name
- SMA NBS comment
- Display Name
- Spinal muscular atrophy newborn screening comment-discussion Nar (DBS)
- Consumer Name Alpha Get Info
- Spinal muscular atrophy newborn screening comment-discussion, Dried blood spot
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.66
- Last Updated
- Version 2.66
- Order vs. Observation
- Observation
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-MX | Spanish (Mexico) | Atrofia muscular espinal cribado neonatal comentario-discusión: |
| es-ES | Spanish (Spain) | Atrofia muscular en la columna screnning de recién nacidos comentario-discusión: |
| fr-FR | French (France) | Atrophie musculaire spinale Dépistage néonatale (commentaire-discusssion): |
| it-IT | Italian (Italy) | Atrofia muscolare spinale, screening neonatale, commenti-discussione: Synonyms: Patologia molecolare Punto nel tempo (episodio) Sangue SMA Spot sangue secco Testo |
| zh-CN | Chinese (China) | 脊髓性肌萎缩 新生儿筛查注释-讨论: Synonyms: Asympt SCN 全血斑点(滤纸); |
92002-5 SMN1 gene [Cycle Threshold #] in DBS by NAA with probe detection
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 Descriptions
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-MX | Spanish (Mexico) | Gen SMN1: |
| es-ES | Spanish (Spain) | Gen SMN1: Synonyms: Cuantitativo |
| fr-FR | French (France) | SMN1 gène: |
| it-IT | Italian (Italy) | SMN1, gene: 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: Synonyms: probe.amp.tar SMN1 gen |
| tr-TR | Turkish (Turkey) | SMN1 geni: Synonyms: Eşik Değer |
| zh-CN | Chinese (China) | SMN1 基因: Synonyms: BCD541; |
Example Units
| Unit | Source |
|---|---|
| {Ct_value} | Example UCUM Units |
97654-8 SMN2 gene copy number in Blood or Tissue by Molecular genetics method
Term Description
The SMN2 copy number varies from 0 to 3 copies in the population, with about 10-15% of unaffected individuals having no SMN2 gene. The SMN2 copy number does not impact the carrier status but rather influences severity of disease in patients with spinal muscular atrophy (SMA), where the presence of more copies is associated with milder disease. PMID: 21673580
Source: Regenstrief LOINC
Part Descriptions
LP426531-2 SMN2 gene copy number
The SMN2 gene (survival of motor neuron 2, centromeric) [HGNC Gene ID:11118] 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. While mutations in the telomeric copy are associated with spinal muscular atrophy, mutations in this gene, the centromeric copy, do not lead to disease. This gene 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 full length 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. Four transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Sep 2008] [NCBI Gene ID:6607]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- SMN2 gene copy number
- Property
- EntNum
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Qn
- Method
- Molgen
Additional Names
- Short Name
- SMN2 copy num EntNum Bld/T
- Display Name
- SMN2 copy num Molgen (Bld/Tiss) [Entitic number]
- Consumer Name Alpha Get Info
- SMN2 copy number, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.70
- Last Updated
- Version 2.72
- 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-MX | Spanish (Mexico) | Número de copia del gen SMN2: |
| es-ES | Spanish (Spain) | Número de copias del gen SMN2: Synonyms: Cuantitativo |
| fr-FR | French (France) | SMN2 gène - Nombre de copie: |
| it-IT | Italian (Italy) | Gene SMN2, numero copia: Synonyms: Gene SMN2 Genetica molecolare Numero copia di gene SMN2 Numero entitico Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | aantal kopieën van SMN2-gen: Synonyms: molgen SMN2 gen |
| zh-CN | Chinese (China) | SMN2 基因拷贝数: Synonyms: BCD541; |
Example Units
| Unit | Source |
|---|---|
| {#} | Example UCUM Units |