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

Conditional

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

84414-2 Haplotype name

Observation Required in Panel

Optional

Fully-Specified Name

Component
Haplotype name
Property
ID
Time
Pt
System
Bld/Tiss
Scale
Nom
Method

Additional Names

Short Name
Haplotype name Bld/T
Display Name
Haplotype name Nom (Bld/Tiss) [ID]
Consumer Name Alpha Get Info
Haplotype name, Blood or tissue specimen

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.58
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Nombre Haplotipo:Código identificador:Punto temporal:Sangre o tejido:Nom:
es-MX Spanish (Mexico) Nombre del haplotipo:Identificador:Punto temporal:Sangre o tejido:Nominal:
fr-FR French (France) Nom haplotype:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:
it-IT Italian (Italy) Aplotipo, nome:ID:Pt:Sangue/Tess:Nom:
Synonyms: Identificatore Nome dell''aplotipo Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
zh-CN Chinese (China) 单体型名称:标识符:时间点:全血/组织:名义型:
Synonyms: 全血或组织;血液/组织;血液或组织 分子病理学;分子病理学试验 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 单体型（单倍型、单倍体型、单元型、单倍体）名称（命名） 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

81250-3 Discrete genetic variant panel

Term Description

This panel is used to report the information associated with a simple genetic variant, such as a single nucleotide change. It should not be used to report information related to structural variants.
Source: Regenstrief LOINC

Fully-Specified Name

Component
Simple variant panel
Property
-
Time
Pt
System
^Patient
Scale
-
Method

Additional Names

Short Name
Simple var pnl
Display Name
Simple variant panel
Consumer Name Alpha Get Info
Simple variant panel

Basic Attributes

Class
PANEL.MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58
Order vs. Observation
Order
Panel Type
Panel

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Panel de variante simple:Propiedades mixtas (sólo paneles):Punto temporal:^paciente:-:
es-MX Spanish (Mexico) Panel de variante simple:-:Punto temporal:^ Paciente:-:
fr-FR French (France) Variant simple panel:-:Ponctuel:Patient:-:
it-IT Italian (Italy) Variante semplice panel:-:Pt:^Paziente:-:
Synonyms: Panel variante semplice Patologia molecolare paziente Punto nel tempo (episodio) Set di prescrizione patologia molecolare
zh-CN Chinese (China) 简单变异组套:-:时间点:^患者:-:
Synonyms: 分子病理学;分子病理学试验 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.分子病理学;分子病理学组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;分子病理学医嘱组类;医嘱组类.分子病理学;实验室医嘱组类.分子病理学 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 时刻;随机;随意;瞬间 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 简单变异组套（组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目）;简单遗传性变异（遗传变异、基因变异、传性变型、遗传变异体、基因变异体）组套 简单遗传性变异（遗传变异、基因变异、传性变型、遗传变异体、基因变异体） 组 组合 组合医嘱 组合类 组套

83005-9 Variant category

Fully-Specified Name

Component
Variant category
Property
Type
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
Variant category
Display Name
Variant category Nom
Consumer Name Alpha Get Info
Variant category

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.58
Last Updated
Version 2.58
Order vs. Observation
Observation

Example Answer List LL4165-8

Answer Code Score Answer ID
Simple variant LA26801-3
Structural variant LA26802-1

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Categoría variante:Tipo:Punto temporal:^paciente:Nom:
es-MX Spanish (Mexico) Categoría de variante:Tipo:Punto temporal:^ Paciente:Nominal:
fr-FR French (France) Catégorie de variant:Type:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) Categoria variante:Tipo:Pt:^Paziente:Nom:
Synonyms: Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 变异类别:类型:时间点:^患者:名义型:
Synonyms: 分子病理学;分子病理学试验 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 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 变异（遗传性变异、遗传变异、基因变异、传性变型、遗传变异体、基因变异体））类别（分类、类、类型） 型 时刻;随机;随意;瞬间

81252-9 Discrete genetic variant

Term Description

This term is used to report the unique identifier of the simple variant found in this study. The identifier may come from various sources, including NCBI's ClinVar and Ensembl. For example, the variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys) has the ClinVar ID 30880 and would be reported in OBX-5 as 30880^NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys)^ClinVar. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Simple variant
Property
ID
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
Simple var ID
Display Name
Simple variant Nom [ID]
Consumer Name Alpha Get Info
Simple variant

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Variante simple:Código identificador:Punto temporal:^paciente:Nom:
es-MX Spanish (Mexico) Variante simple:Identificador:Punto temporal:^ Paciente:Nominal:
fr-FR French (France) Variant simple:Identifiant:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) Variante semplice:ID:Pt:^Paziente:Nom:
Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 简单变异:标识符:时间点:^患者:名义型:
Synonyms: 分子病理学;分子病理学试验 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 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 时刻;随机;随意;瞬间 标识;身份标识符;身份标识 简单遗传性变异（遗传变异、基因变异、传性变型、遗传变异体、基因变异体）

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

Conditional

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

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

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

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

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-ES Spanish (Spain) Cambio del ADN:Hallazgo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Cambio de ADN:Hallazgo:Punto temporal:Sangre o tejido:Nominal: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

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

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

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

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 LL4033-8

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
Copy number gain LA14033-7
Copy number loss LA14034-5
Mobile element insertion LA26324-6
Novel sequence insertion LA26325-3
Tandem duplication LA26326-1
Intrachromosomal breakpoint LA26327-9
Interchromosomal breakpoint LA26328-7
Translocation LA26331-1
Complex LA26330-3
Sequence alteration LA26329-5

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-CA French (Canada) Type de variation de l'ADN:Type:Temps ponctuel:Sang/Tissu:Nominal:Molgen
fr-FR French (France) ADN type de variation:Type:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
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

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

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

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

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

81290-9 Genomic DNA change (gHGVS)

Term Description

The name of a structural variant reported using HGVS nomenclature.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Genomic DNA change
Property
Find
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
Struct var HGVS name
Display Name
Genomic DNA change (g.HGVS) Nom
Consumer Name Alpha Get Info
Genomic DNA Change (g.HGVS)

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Nombre de la variante estructural HGVS:Hallazgo:Punto temporal:^paciente:Nom:
es-MX Spanish (Mexico) Cambio de ADN genómico:Hallazgo:Punto temporal:^ Paciente:Nominal:
fr-FR French (France) Variation ADN génomique:Recherche:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) Variante strutturale nome HGVS:Osservazione:Pt:^Paziente:Nom:
Synonyms: Cambio di DNA Osservazione Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 基因组 DNA 变化:发现:时间点:^患者:名义型:
Synonyms: DNA 改变 分子病理学;分子病理学试验 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 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 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 基因组 DNA 变化（变异、变动、改变、变更、变异、变型、突变）;Genomic DNA change;gHGVS;结构性变异 HGVS 命名;结构性遗传性变异（遗传变异、基因变异、传性变型、遗传变异体、基因变异体） HGVS（Human Genome Variation Society、人类基因组变异协会、人类基因组突变协会） 命名（名称） 时刻;随机;随意;瞬间 替换 置换

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

Conditional

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-ES Spanish (Spain) Nucleótido de referencia:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Nucleótido de referencia:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) Nucléotide de référence:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Nucleotide di riferimento:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: 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 nucleotide:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pl-PL Polish (Poland) Nukleotyd referencyjny:wykrycie lub identyfikacja:punkt w czasie:krew lub tkanka:cecha:genetyka molekularna
pt-BR Portuguese (Brazil) Nucleotídeo de referência:Ident:Pt:Sg/Tecido:Nom:Genética molecular
ru-RU Russian (Russian Federation) Референс нуклеотид: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 nukleotid:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 参考核苷酸: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 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

81254-5 Genomic allele start-end

Term Description

The variant start-end location is the first genomic position in the reference allele that contains a change from the reference allele. For example, for the simple variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys), the variant exact start-end location is Chr3: 128906220 on Assembly GRCh38. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Variant exact start-end
Property
ID
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
Gen allele loc ID
Display Name
Genomic allele start-end
Consumer Name Alpha Get Info
Variant exact start-end

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.68
Change Reason
Release 2.68: COMPONENT: Updated to make the reporting of variant location more generalizable (per the HL7 Clinical Genomics Working Group).
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Localización del alelo genómico:Código identificador:Punto temporal:^paciente:Nom:
es-MX Spanish (Mexico) Variante de inicio-fin exacto:Identificador:Punto temporal:^ Paciente:Nominal:
fr-FR French (France) Variant exact (Début-fin):Identifiant:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) Posizione genomica dell'allele:ID:Pt:^Paziente:Nom:
Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 结构变异确切起止位置:标识符:时间点:^患者:名义型:
Synonyms: 分子病理学;分子病理学试验 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 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 时刻;随机;随意;瞬间 标识;身份标识符;身份标识 结构变异确切（精确）起止位置;基因组等位基因起始（起点、开头、开始、头）-结束（终点、结尾、终止、尾）位置;基因组等位基因位置 起始

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

Conditional

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:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Alelo alternativo genómico:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) Nucléotide variable:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Nucleotide variabile:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Presenza o Identità Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) variable nucleotide:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Nucleotídeo variável:Ident:Pt:Sg/Tecido:Nom:Genética molecular
ru-RU Russian (Russian Federation) Вариабельный нуклеотид: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) Değişken nükleotid:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 可变核苷酸: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 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

84414-2 Haplotype name

Observation Required in Panel

Optional

Fully-Specified Name

Component
Haplotype name
Property
ID
Time
Pt
System
Bld/Tiss
Scale
Nom
Method

Additional Names

Short Name
Haplotype name Bld/T
Display Name
Haplotype name Nom (Bld/Tiss) [ID]
Consumer Name Alpha Get Info
Haplotype name, Blood or tissue specimen

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.58
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Nombre Haplotipo:Código identificador:Punto temporal:Sangre o tejido:Nom:
es-MX Spanish (Mexico) Nombre del haplotipo:Identificador:Punto temporal:Sangre o tejido:Nominal:
fr-FR French (France) Nom haplotype:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:
it-IT Italian (Italy) Aplotipo, nome:ID:Pt:Sangue/Tess:Nom:
Synonyms: Identificatore Nome dell''aplotipo Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
zh-CN Chinese (China) 单体型名称:标识符:时间点:全血/组织:名义型:
Synonyms: 全血或组织;血液/组织;血液或组织 分子病理学;分子病理学试验 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 单体型（单倍型、单倍体型、单元型、单倍体）名称（命名） 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

81255-2 dbSNP [ID]

Term Description

The unique identifier for the variant represented as a small nucleotide polymorphism (SNP). The dbSNP ID is used routinely as the base identifier in pharmacogenomics as well as arrCGH studies. For example, for the simple variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys), the dbSNP ID is 368949613. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
dbSNP
Property
ID
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
dbSNP ID
Display Name
dbSNP Nom [ID]
Consumer Name Alpha Get Info
dbSNP

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) dbSNP:Código identificador:Punto temporal:^paciente:Nom:
es-MX Spanish (Mexico) dbSNP:Identificador:Punto temporal:^ Paciente:Nominal:
fr-FR French (France) dbSNP:Identifiant:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) dbSNP:ID:Pt:^Paziente:Nom:
Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) dbSNP:标识符:时间点:^患者:名义型:
Synonyms: 分子病理学;分子病理学试验 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 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 单核苷酸多态性数据库;Single Nucleotide Polymorphism database 时刻;随机;随意;瞬间 标识;身份标识符;身份标识

81257-8 CIGAR [ID]

Term Description

This term is used to report the unique ID from CIGAR, a syntax for describing variation that is use most frequently during alignment in sequencing studies.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
CIGAR
Property
ID
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
CIGAR var ID
Display Name
CIGAR Nom [ID]
Consumer Name Alpha Get Info
CIGAR

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) CIGAR:Código identificador:Punto temporal:^paciente:Nom:
es-MX Spanish (Mexico) CIGARRO:Identificador:Punto temporal:^ Paciente:Nominal:
fr-FR French (France) CIGAR:Identifiant:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) CIGAR:ID:Pt:^Paziente:Nom:
Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio)
pl-PL Polish (Poland) CIGAR:identyfikator:punkt w czasie:^pacjent:cecha:
Synonyms: CIGAR
zh-CN Chinese (China) CIGAR:标识符:时间点:^患者:名义型:
Synonyms: 分子病理学;分子病理学试验 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 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 时刻;随机;随意;瞬间 标识;身份标识符;身份标识 简要比对信息表达式;紧凑型特殊缺口式比对报告;Compact Idiosyncratic Gapped Alignment Report

48001-2 Cytogenetic (chromosome) location

Observation Required in Panel

Optional

Fully-Specified Name

Component
Chromosome region
Property
ID
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Cyto loc ID
Display Name
Cytogenetic location Molgen Nom (Bld/Tiss) [ID]
Consumer Name Alpha Get Info
Cytogenetic location, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MISC
Type
Laboratory
First Released
Version 2.21
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
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) Región cromosómica:Código identificador:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Región cromosómica:Identificador:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) Chromosome région:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Regione cromosomica:ID:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Identificatore Miscellanea Miscellanea geni Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) 염색체 부위:확인자:검사시점:전혈/조직:명칭결과:분자유전
nl-NL Dutch (Netherlands) chromosoomgebied:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Região do cromossomo:ID:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Chromosomes; Identifier; Ident; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Chromosom; Molecular pathology
ru-RU Russian (Russian Federation) Хромосома участок: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) Kromozom bölgesi:Tnmlyc:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 染色体区域: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: 全血或组织;血液/组织;血液或组织 分子病理学.杂项;分子病理学试验.杂项;分子病理学试验类.其他 分子病理学;分子病理学试验 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 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 杂项;杂项类;杂项试验 染色体二体型+染色体三体型 染色体部位;染色体区;染色体区带;染色体部;染色体区域（染色体部位、染色体区、染色体区带、染色体部） 标识;身份标识符;身份标识 血;血液

48002-0 Genomic source class [Type]

Term Description

The genomic class of the specimen being analyzed: Germline for inherited genome, somatic for cancer genome, and prenatal for fetal genome.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Genomic source class
Property
Type
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Genomic source class
Display Name
Genomic source class Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Genomic source class, 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
14631

Preferred Answer List LL378-1

Answer Code Score Answer ID
Germline LA6683-2
Somatic LA6684-0
Fetal LA10429-1
Likely germline LA18194-3
Likely somatic LA18195-0
Likely fetal LA18196-8
Unknown genomic origin LA18197-6
De novo LA26807-0

Member of these Panels

LOINC Long Common Name
62389-2 Chromosome analysis master panel
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
51966-0 Genetic disease DNA analysis panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel
51962-9 Pharmacogenetic DNA analysis panel
48014-5 Sequence variation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Origen de la clase genómica:Tipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Clase de fuente genómica:Tipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) Source génomique:Type:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Classe fonte Genomica:Tipo:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) genomische bronklasse:type:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Classe da fonte Genomic:Tipo:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Genetic variant source; Typ; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Srce; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Геномный источник класс:Тип:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Genomik kaynak sınıfı:Tip:Zmlı:Kan/Dk:Snf:Molgen
Synonyms: Tür
zh-CN Chinese (China) 基因组来源类: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 基因组来源类别 族;种类;等;类;类别;级;纲;组 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 源 血;血液

81304-8 Variant analysis method [Type]

Term Description

The method used for analyzing chromosome structural variation, such as FISH, arrCGH, sequencing, and MLPA.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Structural variant analysis method
Property
Type
Time
Pt
System
^Patient
Scale
Nom
Method
*

Additional Names

Short Name
Struct var analysis method
Display Name
Structural variant analysis method Nom
Consumer Name Alpha Get Info
Structural variant analysis method

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58
Order vs. Observation
Observation

Example Answer List LL4048-6

Answer Code Score Answer ID
Sequencing LA26398-0
Oligo aCGH LA26399-8
SNP array LA26400-4
BAC aCGH LA26401-2
Curated LA26402-0
Digital array LA26403-8
FISH LA26404-6
Gene expression array LA26405-3
Karyotyping LA26406-1
MAPH LA26407-9
MALDI-TOF LA26408-7
Merging LA26808-8
Multiple complete digestion LA26414-5
MLPA LA26415-2
Optical mapping LA26417-8
PCR LA26418-6
qPCR (real-time PCR) LA26419-4
ROMA LA26420-2
Denaturing high-pressure liquid chromatography (DHPLC) LA26809-6
DNA hybridization LA26810-4
Computational analysis LA26811-2
Single-stranded conformational polymorphism (SSCP) LA26812-0
Restriction fragment length polymorphism (RFLP) LA26813-8

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Métodos de análisis de la variante estrucutral:Tipo:Punto temporal:^paciente:Nom:*
es-MX Spanish (Mexico) Método de análisis de variantes estructurales:Tipo:Punto temporal:^ Paciente:Nominal:*
fr-FR French (France) Variant structurel méthode d'analyse:Type:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) Metodo di analisi della variante strutturale:Tipo:Pt:^Paziente:Nom:*
Synonyms: Metodo di analisi Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 结构变异分析方法:类型:时间点:^患者:名义型:*
Synonyms: 分子病理学;分子病理学试验 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 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 型 方;法;办法;方式 时刻;随机;随意;瞬间 结构性变异;结构性遗传性变异（遗传变异、基因变异、传性变型、遗传变异体、基因变异体） 结构性变异分析方法;结构性遗传性变异（遗传变异、基因变异、传性变型、遗传变异体、基因变异体）分析方法

53037-8 Genetic variation clinical significance [Imp]

Term Description

Single DNA marker or individual allele interpretation in the context of the assessed genetic disease.
Prior to the LOINC release 2.56 (June 2016), the answer list was updated per the recommendations of the American College of Medical Genetics (ACMG). The previous answer list number was LL603-2, and two of the answer strings and LA codes are the same in the new list (pathogenic and benign). In the new answer list, the presumed pathogenic, unknown significance and presumed benign answers from LL603-2 have been replaced by likely pathogenic, uncertain significance and likely benign. The answer strings and their respective LA codes from LL603-2 remain valid.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Genetic disease sequence variation interpretation
Property
Imp
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Gene dis seq var interp-Imp
Display Name
Genetic disease sequence variation interpretation Molgen (Bld/Tiss) [Interp]
Consumer Name Alpha Get Info
Genetic disease sequence variation interpretation, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.73
Change Reason
Updated LCN per CJM for HL7 CG IG
Order vs. Observation
Observation
Common Test Rank Get Info
11949

Preferred Answer List LL4034-6

Answer Code Score Answer ID
Pathogenic LA6668-3
Likely pathogenic LA26332-9
Uncertain significance LA26333-7
Likely benign LA26334-5
Benign LA6675-8

Member of these Panels

LOINC Long Common Name
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Interpretación de la variante de secuencia de la enfermedad genética:Impresión/interpretación del estudio:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Interpretación de la variación de la secuencia de la enfermedad genética:Impresión / interpretación del estudio:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) Maladie génétique interprétation globale de la variation de séquence:Interprétation:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Malattia genetica, interpretazione variazione di sequenza:Imp:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Impressione/interpretazione di studio Interpretazione della variazione di sequenza di ma Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) genetische ziekte sequentievariatie interpretatie:interpretatie:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Doença genética interpretação variação da seqüência:Imp:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Interp; Intrp; Interpret; Interpt; Gene dis seq var interp; Impression; Impressions; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Dis; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Генетическое заболевание последовательность вариация интерпретация:Впчт:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Впечатление/интерпретация исследования Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Genetik hastalık sekans varyasyon yorumu:İzlnm:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 遗传性疾病序列变异解释:印象: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 判读;解释说明;说明;释义;阐明 印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 疾 病 症 血;血液 遗传性疾病（遗传疾病、遗传病、基因疾病）序列变异解释

69548-6 Genetic variant assessment

Term Description

Where testing scenarios are intended to assess the prescence or absence of a known set of DNA variants (e.g. tumor profiling using genotyping technology), then the Genetic Variant Assessment is used in conjunction with answer list supports structured communication of these findings. Of note, 'No Call' is different from 'Absent', because 'No Call' did not result in the determination of the marker's presents or absents. This may be due to test failure or specimen specific context which renders the test ineffective.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Genetic variant assessment
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Genetic var assess
Display Name
Genetic variant assessment Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Genetic variant assessment, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.38
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
13238

Preferred Answer List LL1971-2

Answer Code Score Answer ID
Present Copyright http://snomed.info/sct ID:52101004 Present (qualifier value) LA9633-4
Absent Copyright http://snomed.info/sct ID:2667000 Absent (qualifier value) LA9634-2
No call LA18198-4
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) LA11884-6

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) Valoración de la variabilidad genética:Hallazgo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Evaluación de variantes genéticas:Hallazgo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) Variant génétique étudié:Recherche:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Variante genetica, valutazione:Osservazione:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Osservazione Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci Valutazione di variante genetica
nl-NL Dutch (Netherlands) genetische variant evaluatie:bevinding:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Variante genética avaliação:Achado:Pt:Sg/Tecido:Nom:Genética molecular
ru-RU Russian (Russian Federation) Генетического варианта исследование:Находка:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Генетического варианта определение Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Genetik varyant değerlendirme:Bulgu:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 遗传变异评估: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 未作说明的组织;组织;组织 & 涂片 血;血液 评价;估计;估价;评论;估定;估算 遗传变异（遗传性变异、基因变异、传性变型、遗传变异体、基因变异体）评估（评价、估计、估价、评论、估定、估算）;遗传变异体评估

81259-4 Associated phenotype

Term Description

The possible phenotype associated with the genetic variant found in this study.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Associated phenotype
Property
Find
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
Prob assoc phenotype
Display Name
Associated phenotype
Consumer Name Alpha Get Info
Associated phenotype

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.71
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Fenotipo asociado probable:Hallazgo:Punto temporal:^paciente:Nom:
es-MX Spanish (Mexico) Fenotipo asociado:Hallazgo:Punto temporal:^ Paciente:Nominal:
fr-FR French (France) Phénotype associé:Recherche:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) Probabile fenotipo associato:Osservazione:Pt:^Paziente:Nom:
Synonyms: Osservazione Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 关联表型:发现:时间点:^患者:名义型:
Synonyms: 关联（相关、所关联的、相关的）表型（表现型）;可能（很可能）相关（关联）表型（表现型）;可能相关表型 关联的 分子病理学;分子病理学试验 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 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 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 有联系的 相关的

53034-5 Allelic state

Term Description

The level of occurrence of a single DNA Marker within a set of chromosomes. Heterozygous indicates the DNA Marker is only present in one of the two genes contained in homologous chromosomes. Homozygous indicates the DNA Marker is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Marker exists in the only single copy of a gene in a non-homologous chromosome (The male X and Y chromosome are non-homologous). Hemiplasmic indicates that the DNA Marker is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Maker is present in all of the copies of mitochondrial DNA.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Allelic state
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Allelic state
Display Name
Allelic state Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Allelic state, 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

Preferred Answer List LL381-5

Answer Code Score Answer ID
Heteroplasmic LA6703-8
Homoplasmic LA6704-6
Homozygous LA6705-3
Heterozygous LA6706-1
Hemizygous LA6707-9

Member of these Panels

LOINC Long Common Name
51960-3 DNA marker results panel
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) Estado alélico:Hallazgo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Estado alélico:Hallazgo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) Statut allélique:Recherche:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Stato allelico:Osservazione:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Osservazione Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) allelstatus:bevinding:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Estado alélicas: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; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Аллельное состояние:Находка:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Allelik durum:Bulgu:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 等位状态: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 州;邦;政府;国家;状况;情况 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 等位基因状态 血;血液

81258-6 Sample variant allelic frequency [NFr]

Term Description

The fraction of all reads in a study sample at a given genomic locus that identify the allele (variant) in question. For homozygotes it will be close to 1.0; for heterozygotes it will be close to 0.5. It can be less than 0.5 in the case of mosaics or multiple chromosome, or mixtures of tumor cells and normal cells. This measure is an attribute of the variant and applies when the method is a Next Generation Sequencing (NGS) or similar. Such methods provide many reads from the sample for each locus. To report population allelic frequency, see [LOINC: 92821-8].
Allelic frequency is usually reported as a decimal fraction for both Sample Variant Allelic Frequency and Population Allelic Frequency, although it is occasionally reported as a percent. Special care/caution should be taken when reporting and converting to a decimal fraction.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Sample variant allelic frequency
Property
NFr
Time
Pt
System
^Patient
Scale
Qn
Method

Additional Names

Short Name
Sample VAF
Display Name
Sample variant allelic frequency
Consumer Name Alpha Get Info
Sample variant allelic frequency

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.73
Change Reason
Updated Component from "Allelic frequency" to clarify that this term represents the allelic frequency within a study sample, and corrected Term description to describe sample-level allelic frequency rather than population allelic frequency.
Order vs. Observation
Observation
Common Test Rank Get Info
8648

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Frecuencia alélica variante de muestra:Fracción numérica:Punto temporal:^paciente:Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Frecuencia alélica variante de muestra:Fracción numérica:Punto temporal:^ Paciente:Cuantitativo:
fr-FR French (France) Example de fréquence de variant allélique:Fraction de nombres:Ponctuel:Patient:Numérique:
it-IT Italian (Italy) Frequenza allelica della variante campione:NFr:Pt:^Paziente:Qn:
Synonyms: Frazione numerica Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 样品等位基因频率:计数型分数:时间点:^患者:定量型:
Synonyms: 分子病理学;分子病理学试验 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 对偶基因频率;基因位点频率 数量型分数;数量或计数型分数;数量型分数或计数型分数 时刻;随机;随意;瞬间 样品（标本、样本、试样）等位基因频率 频次;频度;频繁性;次数;频率分布;发生次数;周率;频繁程度

Example Units

Unit Source
% Example UCUM Units

82121-5 Allelic read depth

Observation Required in Panel

Optional

Fully-Specified Name

Component
Allelic read depth
Property
Num
Time
Pt
System
^Patient
Scale
Qn
Method

Additional Names

Short Name
Allelic read depth
Display Name
Allelic read depth [#]
Consumer Name Alpha Get Info
Allelic read depth

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Profundidad de lectura alélica:Número (recuento):Punto temporal:^paciente:Qn:
Synonyms: Cuantitativo
es-MX Spanish (Mexico) Profundidad de lectura alélica:Número (recuento):Punto temporal:^ Paciente:Cuantitativo:
fr-FR French (France) Profondeur allélique:Nombre:Ponctuel:Patient:Numérique:
it-IT Italian (Italy) profondità di lettura allelica:Num:Pt:^Paziente:Qn:
Synonyms: genomico, SNPs, polimorfismi Numero (conta) Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 等位基因读取深度:数量(计数):时间点:^患者:定量型:
Synonyms: 个数;数量;数量或计数（非负整数）;计数 分子病理学;分子病理学试验 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 时刻;随机;随意;瞬间 深 等位基因读取（测序、阅读）深度;等位基因测序深度;等位基因阅读深度

Example Units

Unit Source
{#} Example UCUM Units

82120-7 Allelic phase

Observation Required in Panel

Optional

Fully-Specified Name

Component
Allelic phase
Property
Type
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
Allelic phase
Display Name
Allelic phase Nom
Consumer Name Alpha Get Info
Allelic phase

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.58
Order vs. Observation
Observation

Example Answer List LL4025-4

Answer Code Score Answer ID
1st set of variants in cis relation to each other LA26814-6
2nd set of variants in cis relation to each other LA26815-3
3rd set of variants in cis relation to each other LA26816-1
4th set of variants in cis relation to each other LA26817-9
5th set of variants in cis relation to each other LA26818-7
Maternal LA26320-4
Paternal LA26321-2
Unknown Copyright http://snomed.info/sct ID:261665006 Unknown (qualifier value) LA4489-6
Other, Please specify: LA46-8

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Fase alélica:Tipo:Punto temporal:^paciente:Nom:
es-MX Spanish (Mexico) Fase alélica:Tipo:Punto temporal:^ Paciente:Nominal:
fr-FR French (France) Phase allélique:Type:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) Fase allelica:Tipo:Pt:^Paziente:Nom:
Synonyms: Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 等位基因类型:类型:时间点:^患者:名义型:
Synonyms: 分子病理学;分子病理学试验 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 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 型 时刻;随机;随意;瞬间 等位基因类型（类、型、种类、状态、相位、phase）

82309-6 Basis for allelic phase [Type]

Part Descriptions

LP220487-5   Basis for allelic phase
The evidential basis on which the allelic phase and/or the allelic state was concluded.
Choices include:
1) Directly measured;
2) Family DNA;
3) Family history;
4) Inferred from population data Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Basis for allelic phase
Property
Type
Time
Pt
System
^Patient
Scale
Nom
Method
*

Additional Names

Short Name
Basis allelic phase
Display Name
Basis for allelic phase Nom
Consumer Name Alpha Get Info
Basis for allelic phase

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.58
Last Updated
Version 2.58
Order vs. Observation
Observation

Example Answer List LL4050-2

Answer Code Score Answer ID
Directly measured LA26426-9
Family DNA LA26427-7
Family history LA26428-5
Inferred from population data LA26429-3

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Bases para la fase alélica:Tipo:Punto temporal:^paciente:Nom:*
es-MX Spanish (Mexico) Base para la fase alélica:Tipo:Punto temporal:^ Paciente:Nominal:*
fr-FR French (France) Bases de la phase allélique:Type:Ponctuel:Patient:Résultat nominal:*
it-IT Italian (Italy) Fondamenti di fase allelica:Tipo:Pt:^Paziente:Nom:*
Synonyms: Patologia molecolare paziente Punto nel tempo (episodio)
nl-NL Dutch (Netherlands) basis voor allelische fase:type:moment:^patiënt:nominaal:*
zh-CN Chinese (China) 等位基因相的依据:类型:时间点:^患者:名义型:*
Synonyms: 分子病理学;分子病理学试验 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 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 型 时刻;随机;随意;瞬间 等位基因相（状态、相位）的依据（根据、原因、缘由） 等位基因类型（类、型、种类、状态、相位、phase）