48017-8
Sequencing methodology panel - Blood or Tissue by Molecular genetics method
Active
48018-6 Gene studied [ID]
Term Description
HUGO Gene Nomenclature Committee (HGNC) identifier for a gene. List the gene(s) examined in full or in part by the study. If the study addresses multiple genes, these can be recorded in one OBX as a list seperated by repeat delimiters or in mulltiple OBX's with one gene per OBX. The recommended coding system will use the HGNC gene symbol as the display text and HGNC gene ID as the code. For example, 21497^ACAD9^HGNC.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Gene identifier
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
Additional Names
- Short Name
- Gene studied ID
- Display Name
- Gene studied Nom (Bld/Tiss) [ID]
- Consumer Name Alpha Get Info
- Gene studied, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 9796
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 |
| 102118-7 | Rhabdomyolysis and Metabolic myopathy multigene panel - Blood or Tissue by Molecular genetics method |
| 48014-5 | Sequence variation panel - Blood or Tissue by Molecular genetics method |
| 48017-8 | Sequencing methodology panel - Blood or Tissue by Molecular genetics method |
| 102119-5 | Skeletal muscle channelopathy multigene panel - Blood or Tissue by Molecular genetics method |
| 74028-2 | Virtual Medical Record for Clinical Decision Support panel HL7.VMR-CDS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Identificador genético: |
| es-MX | Spanish (Mexico) | Identificador de gen estudiado: |
| fr-FR | French (France) | Gène identifiant: |
| it-IT | Italian (Italy) | Gene, identificatore: Synonyms: Identificatore Identificatore del gene Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | gen-identificator: |
| pt-BR | Portuguese (Brazil) | Identificação do gene: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Ген идентификатор: Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Gen tanımlayıcı: |
| zh-CN | Chinese (China) | 基因标识符: Synonyms: HL7 遗传学 全血或组织; |
47999-8 DNA region name [Identifier]
Term Description
A human readable name for the region of interest. Typically Exon #, Intron # or other. NOTE: This is not standardized and is mainly for convenience and display purposes.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- DNA region name
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- DNA region name
- Display Name
- DNA region name Molgen Nom (Bld/Tiss) [ID]
- Consumer Name Alpha Get Info
- DNA region name, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 16923
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 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 |
| 48014-5 | Sequence variation panel - Blood or Tissue by Molecular genetics method |
| 48017-8 | Sequencing methodology panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Nombre de la región de ADN: |
| es-MX | Spanish (Mexico) | Nombre de la región de ADN: |
| fr-FR | French (France) | ADN nom de la région: |
| it-IT | Italian (Italy) | DNA, nome regione: Synonyms: Genetica molecolare Identificatore Nome di regione del DNA Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | DNA regionaam: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Nome da região do DNA: Synonyms: Gene region; |
| ru-RU | Russian (Russian Federation) | ДНК зона наименование: Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | DNA bölge adı: |
| zh-CN | Chinese (China) | DNA 区域名称: Synonyms: HL7 遗传学 全血或组织; |
48020-2 Forward primer [Nucleotide sequence] in Blood or Tissue by Molecular genetics method Nominal
Term Description
Example answer: cctcattagtcgtt
Definition: Carries the literal string that represents the forward primer used to perform one portion of the sequencing g .The nucleotides are specified with the standard one letter codes.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Forward primer
- Property
- Seq
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Forward Primer Seq Bld/T
- Display Name
- Forward primer Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- Forward primer, 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
Example Answer List LL2236-9
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| tagttagtgtgaaagaagc | LA19110-8 | ||
| cctcattagtcgtt | LA19111-6 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 48017-8 | Sequencing methodology panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Primer iniciador: |
| es-MX | Spanish (Mexico) | Imprimación directa: |
| fr-FR | French (France) | Amorce sens: |
| it-IT | Italian (Italy) | Forward primer: Synonyms: fw PRIMER Genetica molecolare Miscellanea Miscellanea geni Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Sequenza nucleotidica Tessuto & |
| nl-NL | Dutch (Netherlands) | voorwaartse primer: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Enviar primeiro: Synonyms: Point in time; |
| ru-RU | Russian (Russian Federation) | Прямой праймер: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Ön primer: Synonyms: Sekans |
| zh-CN | Chinese (China) | 正向引物: Synonyms: 全血或组织; |
48021-0 Reverse primer [Nucleotide sequence] in Blood or Tissue by Molecular genetics method Nominal
Term Description
Example answer: tagttagtgtgaaagaagc
Definition: Carries the literal string that represents the reverse primer for the sequencing. Use the usual abbreviation for the four nucleotides.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Reverse primer
- Property
- Seq
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Reverse Primer Seq Bld/T
- Display Name
- Reverse primer Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- Reverse primer, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MISC
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.42
- Order vs. Observation
- Observation
Example Answer List LL2236-9
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| tagttagtgtgaaagaagc | LA19110-8 | ||
| cctcattagtcgtt | LA19111-6 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 48017-8 | Sequencing methodology panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Primer reverso: |
| es-MX | Spanish (Mexico) | Imprimación inversa: |
| fr-FR | French (France) | Amorce antisens: |
| it-IT | Italian (Italy) | Reverse primer: Synonyms: Genetica molecolare Miscellanea Miscellanea geni Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Sequenza nucleotidica Tessuto & |
| nl-NL | Dutch (Netherlands) | reverse primer: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Reverter primeiro: Synonyms: Identifier; |
| ru-RU | Russian (Russian Federation) | Обратный праймер: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Ters primer: Synonyms: Sekans |
| zh-CN | Chinese (China) | 反向引物: Synonyms: 倒 倒的 倒转 倒转的 全血或组织; |
48012-9 Reference sequence [Nucleotide sequence] in Blood or Tissue by Molecular genetics method Nominal
Term Description
A reference sequence carries the literal string that represents the DNA (or RNA) sequence that is the basis for deciding what is a different (a variation) in the study subject. The same information can also be reported more compactly by a reference sequence identifier [LOINC: 48013-7] if the reference sequence has been catalogued by a registration authority such as RefSeq at NCBI. Reference sequences can be quite long.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Reference sequence
- Property
- Seq
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Ref Sequence Seq Bld/T
- Display Name
- Reference sequence Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- Reference sequence, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MISC
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.56
- Change Reason
- Changed Property from "ID" to "Seq", a more representative Property for this term.
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 48017-8 | Sequencing methodology panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Secuencia de referencia: |
| es-MX | Spanish (Mexico) | Secuencia de referencia: |
| fr-FR | French (France) | Séquence de référence: |
| it-IT | Italian (Italy) | Sequenza di riferimento: Synonyms: Genetica molecolare Miscellanea Miscellanea geni Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Sequenza nucleotidica Tessuto & |
| nl-NL | Dutch (Netherlands) | referentie sequentie: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Seqüência de referência: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Референсная последовательность: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Referans sekans: Synonyms: Sekans |
| zh-CN | Chinese (China) | 参考序列: Synonyms: 全血或组织; |
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
Optional
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-MX | Spanish (Mexico) | Identificador de secuencia de referencia genómica: |
| es-ES | Spanish (Spain) | 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; |