51956-1
DNA region analysis test coverage panel
Active
53041-0 DNA region of interest panel
Term Description
A set of observations which comprise the definition of a contiguous sequence of nucleotides in the genome. This is intended for use in genetic test coverage panels in genetic test reporting.
Source: Regenstrief LOINC
Observation Required in Panel
Required
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- DNA region of interest panel
- Property
- -
- Time
- Pt
- System
- Bld/Tiss
- Scale
- -
- Method
- Molgen
Additional Names
- Short Name
- DNA region of interest Pnl
- Display Name
- DNA region of interest panel Molgen (Bld/Tiss)
- Consumer Name Alpha Get Info
- DNA region of interest panel, Blood or tissue specimen
Basic Attributes
- Class
- PANEL.HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.68
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 55233-1 | Genetic analysis master panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Perfil región de interés del ADN: |
| es-MX | Spanish (Mexico) | Panel de la región de interés del ADN: |
| fr-FR | French (France) | ADN région d'intérêt panel: |
| it-IT | Italian (Italy) | DNA, regione di interesse, panel: Synonyms: Genetica molecolare Panel HL7 genetica Panel regione di interesse del DNA Punto nel tempo (episodio) Referto clinico di test genetico Regione di interesse del DNA Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | DNA regio van interesse panel: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | DNA região de interesse painel: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | ДНК зона интереса панель: Synonyms: Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| zh-CN | Chinese (China) | DNA 兴趣区域组套: Synonyms: DNA 兴趣区域组套（组合、 |
48013-7 Genomic reference sequence [ID]
Term Description
This field carries the ID for the genomic reference sequence. The genomic reference sequence is a contiguous stretch of chromosome DNA that spans all of the exons of the gene and includes transcribed and non transcribed stretches. For this ID use either the NCBI genomic nucleotide RefSeq IDs with their version number (see: NCBI.NLM.NIH.Gov/RefSeq) or use the LRG identifiers, without transcript (t or p) extensions -- when they become available. (See- Report sponsored by GEN2PHEN at the European Bioinformatics Institute at Hinxton UK April 24-25, 2008).
The NCI RefSeq genomic IDs are distinguished by a prefix of"NG" for genes from the nuclear chromosomes and prefix of "NC" for genes from mitochondria. The LRG Identifiers have a prefix of "LRG_" Mitochondrial genes are not in the scope of LRG
Source: Regenstrief LOINC
Observation Required in Panel
Required
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Genomic reference sequence identifier
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
Additional Names
- Short Name
- Genomic reference sequence ID
- Display Name
- Genomic reference sequence Nom (Bld/Tiss) [ID]
- Consumer Name Alpha Get Info
- Genomic reference sequence, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 77313-5 | DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method |
| 53042-8 | DNA marker assessed panel |
| 53044-4 | DNA marker identified panel |
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 48015-2 | Individual allele panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
| 78046-0 | Pharmacogenomic analysis basic associated observations panel - Blood or Tissue |
| 48017-8 | Sequencing methodology panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Identificador de secuencia de referencia genómica: |
| es-MX | Spanish (Mexico) | Identificador de secuencia de referencia genómica: |
| fr-FR | French (France) | Séquence de référence génomique identifiant: |
| it-IT | Italian (Italy) | Sequenza di riferimento genomica, identificatore: Synonyms: Identificatore Identificatore della sequenza genomica di riferime Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | genomische referentie sequentie identificator: |
| pt-BR | Portuguese (Brazil) | Identificador da sequência de referência Genomic: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Геном референсная последовательность идентификатор: Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Genomik referans sekans tanımlayıcı: |
| zh-CN | Chinese (China) | 基因组参考序列标识符: Synonyms: HL7 遗传学 全血或组织; |
69545-2 DNA region of interest start [Identifier]
Term Description
DNA Region of Interest Start and DNA Region of Interest Stop is optional information. However, if used they should be used together. These codes are used to define the region examined for DNA variants within a genetic test.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- DNA region of interest start
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- DNA ROI start
- Display Name
- DNA region of interest start Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- DNA region of interest start, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.38
- Last Updated
- Version 2.56
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 55233-1 | Genetic analysis master panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | ADN región de comienzo: |
| es-MX | Spanish (Mexico) | Inicio de la región de interés del ADN: |
| fr-FR | French (France) | ADN début de la région d'intérêt: |
| it-IT | Italian (Italy) | DNA, regione di interesse, inizio: Synonyms: Genetica molecolare Inizio regione di interesse del DNA Presenza o Identità Punto nel tempo (episodio) Referto clinico di test genetico Regione di interesse del DNA Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | DNA regio van interesse start: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Região de DNA de interesse inicial: |
| ru-RU | Russian (Russian Federation) | ДНК зона интереса начало: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | DNA bölgesi start interest: |
| zh-CN | Chinese (China) | DNA 兴趣区域开始: Synonyms: HL7 遗传学 全血或组织; |
69546-0 DNA region of interest stop [Identifier]
Term Description
DNA Region of Interest Start and DNA Region of Interest Stop is optional information. However, if used they should be used together. These codes are used to define the region examined for DNA variants within a genetic test.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- DNA region of interest stop
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- DNA ROI stop
- Display Name
- DNA region of interest stop Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- DNA region of interest stop, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.38
- Last Updated
- Version 2.56
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 55233-1 | Genetic analysis master panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | ADN región de parada: |
| es-MX | Spanish (Mexico) | Parada de la región de interés del ADN: |
| fr-FR | French (France) | ADN fin de la région d'intérêt: |
| it-IT | Italian (Italy) | DNA, regione di interesse, fine: Synonyms: Fine regione di interesse del DNA Genetica molecolare Presenza o Identità Punto nel tempo (episodio) Referto clinico di test genetico Regione di interesse del DNA Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | DNA regio van interesse stop: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Região de DNA de final de interesse: |
| ru-RU | Russian (Russian Federation) | ДНК зона интереса конец: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | DNA bölgesi stop interest: |
| zh-CN | Chinese (China) | DNA 兴趣区域结束: Synonyms: HL7 遗传学 全血或组织; |
69547-8 Genomic ref allele [ID]
Term Description
Reference values ("normal") examined within the Reference Sequence. This is used in a genotyping test to define the reference and variable nucleotide strings. That is if the sequence variation is an insertion, then Reference Nucleotide will be blank and Variable Nucleotide will contain the inserted nucleotides. In contrast, if the sequence variation is a deletion, then the Reference Nucleotide will contain the deleted nucliotieds, and the Variable Nucleotide will be blank.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Reference nucleotide
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Ref nucleotide
- Display Name
- Reference nucleotide Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- Reference nucleotide, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.38
- Last Updated
- Version 2.58
- Change Reason
- Updated LCN per CJM for HL7 CG IG
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 55233-1 | Genetic analysis master panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Nucleótido de referencia: |
| es-ES | Spanish (Spain) | Nucleótido de referencia: |
| fr-FR | French (France) | Nucléotide de référence: |
| it-IT | Italian (Italy) | Nucleotide di riferimento: Synonyms: Genetica molecolare Presenza o Identità Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | referentie nucleotide: Synonyms: molgen |
| pl-PL | Polish (Poland) | Nukleotyd referencyjny: |
| pt-BR | Portuguese (Brazil) | Nucleotídeo de referência: |
| ru-RU | Russian (Russian Federation) | Референс нуклеотид: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Referans nukleotid: |
| zh-CN | Chinese (China) | 参考核苷酸: Synonyms: HL7 遗传学 全血或组织; |
69551-0 Genomic alt allele [ID]
Term Description
The genomic alternate allele is the contiguous segment of DNA in the test sample that differs from the reference allele at the same location and thus defines a variant.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Variable nucleotide
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Alt allele
- Display Name
- Genomic alternate allele Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- Genomic alternate allele, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.38
- Last Updated
- Version 2.58
- Change Reason
- Updated LCN per CJM for HL7 CG IG
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 55233-1 | Genetic analysis master panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Nucleótido variable: |
| es-MX | Spanish (Mexico) | Alelo alternativo genómico: |
| fr-FR | French (France) | Nucléotide variable: |
| it-IT | Italian (Italy) | Nucleotide variabile: Synonyms: Genetica molecolare Presenza o Identità Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | variable nucleotide: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Nucleotídeo variável: |
| ru-RU | Russian (Russian Federation) | Вариабельный нуклеотид: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Değişken nükleotid: |
| zh-CN | Chinese (China) | 可变核苷酸: Synonyms: HL7 遗传学 全血或组织; |
48010-3 Genechip ID [Identifier] in Blood or Tissue by Molecular genetics method
Term Description
Example answer:333^Third Wave Invader^3WAVE
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Genechip ID
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Genechip ID Bld/T
- Display Name
- Genechip ID Molgen Nom (Bld/Tiss) [ID]
- Consumer Name Alpha Get Info
- Genechip ID, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MISC
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.26
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 48016-0 | Genechip kit panel - Blood or Tissue by Molecular genetics method |
| 55233-1 | Genetic analysis master panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Identificación de chip de genotipos: |
| es-MX | Spanish (Mexico) | ID de Genechip: |
| fr-FR | French (France) | Genechip ID: |
| it-IT | Italian (Italy) | Genechip, ID: Synonyms: Genetica molecolare ID Genechip Identificatore Miscellanea Miscellanea geni Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | genenchip ID: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Genechip ID: Synonyms: Identifier; |
| ru-RU | Russian (Russian Federation) | Генечип ID: Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Gençip Tmlyc: |
| zh-CN | Chinese (China) | 基因芯片标识符: Synonyms: 全血或组织; |
48009-5 Genechip manufacturer ID [Identifier] in Blood or Tissue by Molecular genetics method
Term Description
Example answer: 527362^Third Wave^UNIV
Definition: Record the ID and name of the Gene Chip manufacturers here in HL7 CE code format (Code^display name^code system).
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Genechip manufacturer ID
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Genechip Manufacturer ID Bld/T
- Display Name
- Genechip manufacturer ID Molgen Nom (Bld/Tiss) [ID]
- Consumer Name Alpha Get Info
- Genechip Manufacturer ID, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MISC
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.26
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 48016-0 | Genechip kit panel - Blood or Tissue by Molecular genetics method |
| 55233-1 | Genetic analysis master panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | ID del fabricante de Genechip: |
| es-ES | Spanish (Spain) | Identificación de fabricante de chip de genotipos: |
| fr-FR | French (France) | Genechip ID du fabricant: |
| it-IT | Italian (Italy) | Genechip, ID produttore: Synonyms: Genetica molecolare ID produttore Genechip Identificatore Miscellanea Miscellanea geni Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | genenchip fabrikant ID: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | fabricante GeneChip ID: Synonyms: Identifier; |
| ru-RU | Russian (Russian Federation) | Генечип производитель ID: Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Gençip üreticisi Tnmlyc: |
| zh-CN | Chinese (China) | 基因芯片制造商标识符: Synonyms: 全血或组织; |
48011-1 Genechip version [Identifier] in Blood or Tissue by Molecular genetics method
Term Description
Example answer: 1.0
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Genechip version
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Genechip Version Bld/T
- Display Name
- Genechip version Molgen Nom (Bld/Tiss) [ID]
- Consumer Name Alpha Get Info
- Genechip version, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MISC
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.26
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 48016-0 | Genechip kit panel - Blood or Tissue by Molecular genetics method |
| 55233-1 | Genetic analysis master panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Versión de chip de genotipos: |
| es-MX | Spanish (Mexico) | Versión Genechip: |
| fr-FR | French (France) | Genechip version: |
| it-IT | Italian (Italy) | Genechip, versione: Synonyms: Genetica molecolare Identificatore Miscellanea Miscellanea geni Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | genenchip versie: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Versão de Genechip: Synonyms: Identifier; |
| ru-RU | Russian (Russian Federation) | Генечип версия: Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Gençip version: |
| zh-CN | Chinese (China) | 基因芯片版本: Synonyms: 全血或组织; |