Version 2.78

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

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Type of Entry

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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:Código identificador:Punto temporal:Sangre o tejido:Nom:
es-MX Spanish (Mexico) Identificador de gen estudiado:Identificador:Punto temporal:Sangre o tejido:Nominal:
fr-FR French (France) Gène identifiant:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:
it-IT Italian (Italy) Gene, identificatore:ID:Pt:Sangue/Tess:Nom:
Synonyms: Identificatore Identificatore del gene Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) gen-identificator:identificator:moment:bloed of weefsel:nominaal:
pt-BR Portuguese (Brazil) Identificação do gene:ID:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; Gene ID; Ident; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Ген идентификатор:ID:ТчкВрм:Кр/Тк:Ном:
Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Gen tanımlayıcı:Tnmlyc:Zmlı:Kan/Dk:Snf:
zh-CN Chinese (China) 基因标识符:标识符:时间点:全血/组织:名义型:
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 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 基因标识;基因 ID 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 标识;身份标识符;身份标识 标识;身份标识符;身份标识;ID 血;血液 遗传基因;遗传因子;吉恩;生物基因

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

Conditional

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:Código identificador:Punto temporal:Sangre o tejido:Nom:
es-MX Spanish (Mexico) Identificador de secuencia de referencia genómica:Identificador:Punto temporal:Sangre o tejido:Nominal:
fr-FR French (France) Séquence de référence génomique identifiant:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:
it-IT Italian (Italy) Sequenza di riferimento genomica, identificatore:ID:Pt:Sangue/Tess:Nom:
Synonyms: Identificatore Identificatore della sequenza genomica di riferime Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) genomische referentie sequentie identificator:identificator:moment:bloed of weefsel:nominaal:
pt-BR Portuguese (Brazil) Identificador da sequência de referência Genomic:ID:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; Ref Sequence; Genomic reference sequence ID; Reference sequence ID; Ident; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Genetic; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Геном референсная последовательность идентификатор:ID:ТчкВрм:Кр/Тк:Ном:
Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Genomik referans sekans tanımlayıcı:Tnmlyc:Zmlı:Kan/Dk:Snf:
zh-CN Chinese (China) 基因组参考序列标识符:标识符:时间点:全血/组织:名义型:
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 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 基因组参考序列标识;基因组参考序列 ID 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 标识;身份标识符;身份标识 标识;身份标识符;身份标识;ID 血;血液

51958-7 Transcript reference sequence [ID]

Term Description

This field carries the ID for the transcribed reference sequence, which is the part of the genomic reference sequence that is converted to messenger RNA (i.e., after the introns are removed). The transcript reference sequence ID may be reporting using various coding systems including NCBI's RefSeq ("NM_..."), Ensembl ("ENST..."), and LRG ("LRG..." plus "t1" to indicate transcript).
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component
Transcript reference sequence identifier
Property
ID
Time
Pt
System
Bld/Tiss
Scale
Nom
Method

Additional Names

Short Name
Transcript ref sequence ID
Display Name
Transcript reference sequence Nom (Bld/Tiss) [ID]
Consumer Name Alpha Get Info
Transcript reference sequence, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
14335

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

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Identificador de secuencia de referencia transcrita:Código identificador:Punto temporal:Sangre o tejido:Nom:
es-MX Spanish (Mexico) Identificador de secuencia de referencia de la transcripción:Identificador:Punto temporal:Sangre o tejido:Nominal:
fr-FR French (France) Séquence de référence du transcript identifiant:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:
it-IT Italian (Italy) Trascrizione, identificatore sequenza di riferimento:ID:Pt:Sangue/Tess:Nom:
Synonyms: Identificatore Identificatore di sequenza di riferimento di trasc Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) transcriptie referentiesequentie identificator:identificator:moment:bloed of weefsel:nominaal:
pt-BR Portuguese (Brazil) Transcrição identificador seqüência de referência:ID:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; Transcript ref sequence ID; Ident; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Транскрипт референсная последовательность идентификатор:ID:ТчкВрм:Кр/Тк:Ном:
Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Transkript referans sekans tanımlayıcı:Tnmlyc:Zmlı:Kan/Dk:Snf:
zh-CN Chinese (China) 转录物参考序列标识符:标识符:时间点:全血/组织:名义型:
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 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 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 标识;身份标识符;身份标识 标识;身份标识符;身份标识;ID 血;血液 转录物（转录本、转录产物、转录子、转录）参考序列标识符;转录本参考序列标识;转录本参考序列 ID

53045-1 Reference sequence alteration [Identifier]

Term Description

Human Genome Variation Society (HGVS) nomenclature for conveying an alteration to the associated reference sequences used to define the genome as a basis for comparison with actual results.
Source: Regenstrief LOINC

Observation Required in Panel

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Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component
Reference sequence alteration
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Ref sequence alteration
Display Name
Reference sequence alteration Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Reference sequence alteration, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.68
Order vs. Observation
Observation

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
48015-2 Individual allele panel
51975-1 Individual allele results panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Alteración de la secuencia de referencia:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Alteración de la secuencia de referencia:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Séquence de référence altération:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Sequenza di riferimento, alterazione:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Alterazione di sequenza di riferimento Genetica molecolare Presenza o Identità Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) referentie sequentie wijziging:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Referência alteração da seqüência:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; Ref sequence alteration; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Референсная последовательность альтерация:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Referans sekans değişmesi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 参考序列改变:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 参考序列变更;参考序列变化;参考序列改动;参考序列更改 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 血;血液

48004-6 DNA change (c.HGVS)

Term Description

Human Genome Variation Society (HGVS) nomenclature for a single DNA marker. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

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Fully-Specified Name

Component
DNA change
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
DNA change
Display Name
DNA change Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
DNA change, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.73
Change Reason
Updated LCN per CJM for HL7 CG IG; Changed Component from "DNA sequence variation" to conform with the balloted HL7 v2 IG
Order vs. Observation
Observation
Common Test Rank Get Info
8938

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
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
48014-5 Sequence variation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Cambio de ADN:Hallazgo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Cambio del ADN:Hallazgo:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) ADN variation:Recherche:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) DNA, cambio:Osservazione:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Cambio di DNA Genetica molecolare Osservazione Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
pt-BR Portuguese (Brazil) Variação da sequência de DNA:Achado:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; DNA seq var; DNA change; Deoxyribonucleic acid; Finding; Findings; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
zh-CN Chinese (China) DNA 变化:发现:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: DNA 改变 HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 去氧核糖核酸;脱氧核糖核酸;脱氧核糖核酸（Deoxyribonucleic acid，DNA） 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 时刻;随机;随意;瞬间 替换 未作说明的组织;组织;组织 & 涂片 置换 血;血液

48019-4 DNA change type

Term Description

Codified type for associated DNA Marker. DNA Marker's use the HGVS notation which implies the DNA Marker Type, but the concurrent use of this code will allow a standard and explicit type for technical and display convenience.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component
DNA change type
Property
Type
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
DNA Change Type
Display Name
DNA change type Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
DNA change type, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.64
Change Reason
Updated LCN per CJM for HL7 CG IG; Changed Component from "DNA sequence variation type" to conform with balloted HL7 v2 IG
Order vs. Observation
Observation

Preferred Answer List LL379-9

Answer Code Score Answer ID
Wild type LA9658-1
Deletion LA6692-3
Duplication LA6686-5
Insertion LA6687-3
Insertion/Deletion LA6688-1
Inversion LA6689-9
Substitution LA6690-7

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
81247-9 Master HL7 genetic variant reporting panel
48014-5 Sequence variation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Tipo de cambio del ADN:Tipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Tipo de cambio de ADN:Tipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) ADN type de variation:Type:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
fr-CA French (Canada) Type de variation de l'ADN:Type:Temps ponctuel:Sang/Tissu:Nominal:Molgen
it-IT Italian (Italy) DNA, cambio tipo:Tipo:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Cambio di DNA Cambio tipo di DNA Genetica molecolare Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
pt-BR Portuguese (Brazil) Tipo de variação de sequência de DNA:Tipo:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; DNA seq var type; DNA change type; Deoxyribonucleic acid; Typ; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
zh-CN Chinese (China) DNA 变化类型:类型:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: DNA 改变 DNA 改变类型 HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 去氧核糖核酸;脱氧核糖核酸;脱氧核糖核酸（Deoxyribonucleic acid，DNA） 型 时刻;随机;随意;瞬间 替换 未作说明的组织;组织;组织 & 涂片 置换 血;血液

48003-8 DNA sequence variation identifier [Identifier]

Term Description

A DNA Marker identifier conveys a universal or standard repository identifier for definitive characterstics of a DNA Marker. (recommend using NCBI dbSNP ids - rs#)
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component
DNA sequence variation identifier
Property
ID
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
DNA seq var ID
Display Name
DNA sequence variation identifier Molgen Nom (Bld/Tiss) [ID]
Consumer Name Alpha Get Info
DNA sequence variation identifier, 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
14222

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

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Identificador variante de secuencia de ADN:Código identificador:Punto temporal:Sangre o tejido:Nom:Genética molecular
Synonyms: Cambio ADN
es-MX Spanish (Mexico) Identificador de variación de secuencia de ADN:Identificador:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) ADN identifiant de la variation de séquence:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) DNA, identificatore variazione sequenza:ID:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Identificatore Identificatore di variazione di sequenza del DNA Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci Variazione di sequenza del DNA
nl-NL Dutch (Netherlands) DNA sequentievariatie identificator:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Identificador de variação da seqüência do DNA:ID:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; DNA seq var ID; Genetic variant ID; DNA change; Deoxyribonucleic acid; Ident; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) ДНК последовательность вариация идентификатор:ID:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) DNA sekans varyasyonu tanımalayıcı:Tnmlyc:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) DNA 序列变异标识符:标识符:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 去氧核糖核酸;脱氧核糖核酸;脱氧核糖核酸（Deoxyribonucleic acid，DNA） 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 标识;身份标识符;身份标识 标识;身份标识符;身份标识;ID 血;血液

48005-3 Amino acid change (pHGVS)

Term Description

Human Genome Variation Society (HGVS) nomenclature for an amino acid sequence. This value is derivable from the DNA Marker value if available. It is provided for convenience. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component
Amino acid change
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Amino acid change
Display Name
Amino acid change Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Amino acid change, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.73
Change Reason
Updated LCN per CJM for HL7 CG IG
Order vs. Observation
Observation
Common Test Rank Get Info
4958

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
81247-9 Master HL7 genetic variant reporting panel
48014-5 Sequence variation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) cambio aminoacídico:Hallazgo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Cambio de aminoácidos:Hallazgo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) Acides aminés substitués:Recherche:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Aminoacido, cambio:Osservazione:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Cambio di aminoacido Genetica molecolare Osservazione Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) aminozuurwijziging:bevinding:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Mudança de amino ácido:Achado:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Finding; Findings; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Exchange; Replace; Acd; Acids; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Аминокислота изменение:Находка:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Amino asit değişimi:Bulgu:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 氨基酸变化:发现:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 时刻;随机;随意;瞬间 替换 未作说明的组织;组织;组织 & 涂片 置换 血;血液 酸

48006-1 Amino acid change [Type]

Term Description

Codified type for associated Amino Acid Marker. Amino Acid Marker's use the HGVS notation which implies the Amino Acid Marker Type, but the concurrent use of this code will allow a standard and explicit type for technical and display convenience.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component
Amino acid change type
Property
Type
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Amino acid change type
Display Name
Amino acid change type Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Amino acid change type, 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

Preferred Answer List LL380-7

Answer Code Score Answer ID
Wild type LA9658-1
Deletion LA6692-3
Duplication LA6686-5
Frameshift LA6694-9
Initiating Methionine LA6695-6
Insertion LA6687-3
Insertion and Deletion LA9659-9
Missense LA6698-0
Nonsense LA6699-8
Silent LA6700-4
Stop Codon Mutation LA6701-2

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
81247-9 Master HL7 genetic variant reporting panel
48014-5 Sequence variation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Tipo de cambio aminoacídico:Tipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Tipo de cambio de aminoácidos:Tipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) Acides aminés type de substitution:Type:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Aminoacido, cambio tipo:Tipo:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Cambio di aminoacido Cambio tipo di aminoacido Genetica molecolare Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) aminozuurwijzigingstype:type:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen soort
pt-BR Portuguese (Brazil) Tipo de mudança de amino ácido:Tipo:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Typ; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Exchange; Replace; Acd; Acids; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Аминокислота изменение тип:Тип:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Amino asit değişimi tipi:Tip:Zmlı:Kan/Dk:Snf:Molgen
Synonyms: Tür
zh-CN Chinese (China) 氨基酸变化类型:类型:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 型 时刻;随机;随意;瞬间 替换 未作说明的组织;组织;组织 & 涂片 置换 血;血液 酸

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:Código identificador:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Nombre de la región de ADN:Identificador:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) ADN nom de la région:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) DNA, nome regione:ID:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Identificatore Nome di regione del DNA Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) DNA regionaam:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Nome da região do DNA:ID:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Gene region; Deoxyribonucleic acid; Identifier; Ident; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) ДНК зона наименование:ID:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) DNA bölge adı:Tnmlyc:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) DNA 区域名称:标识符:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 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 区;地区;局部 去氧核糖核酸;脱氧核糖核酸;脱氧核糖核酸（Deoxyribonucleic acid，DNA） 姓名;名字;名 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 标识;身份标识符;身份标识 血;血液