Version 2.78

55239-8 HBB gene c.441_442insAC [Presence] in Blood by Molecular genetics method

Fully-Specified Name

Component
HBB gene.c.441_442insAC
Property
PrThr
Time
Pt
System
Bld
Scale
Ord
Method
Molgen

Additional Names

Short Name
HBB c.441_442insAC Bld Ql
Display Name
HBB gene c.441_442insAC Molgen Ql (Bld)
Consumer Name Alpha Get Info
HBB gene c.441_442insAC, Blood

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.27
Last Updated
Version 2.56
Change Reason
The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
55235-6 Abnormal hemoglobin gene panel - Blood by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen HBB c.441_442insAC:PrThr:Punto temporal:Sangre:Ord:Genética molecular
es-MX Spanish (Mexico) Gen HBB.c.441_442insAC:Presencia o umbral:Punto temporal:Sangre:Ordinal:Genética molecular
fr-FR French (France) HBB gène mutation c.441_442insAC:Présence/Seuil:Ponctuel:Sang:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) HBB, gene.c.441_442insAC:PrThr:Pt:Sangue:Ord:Molgen
Synonyms: Gene HBB Gene HBB c.441_442insAc Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue
nl-NL Dutch (Netherlands) HBB-gen.c.441_442insAC:aanwezigheid:moment:bloed:ordinaal:moleculair genetisch onderzoek
Synonyms: HBB gen HBB gen.c.441_442insAC molgen
pt-BR Portuguese (Brazil) HBB gene.c.441_442insAC:#N/A:Pt:SgTotal:Ord:Genética molecular
Synonyms: HB Tak; Hemoglobin S gene; Sickle cell anemia; Beta globulin gene; Hemoglobin beta chain; Arbitrary; Point in time; Random; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) HBB ген.c.441_442insAC:PrThr:ТчкВрм:Кр:Пор:МолГен
Synonyms: Кровь Порядковый Точка во времени;Момент
tr-TR Turkish (Turkey) HBB geni.c.441_442insAC:MevcEşik:Zmlı:Kan:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) HBB 基因.c.441_442insAC:存在情况或阈值:时间点:全血:序数型:分子遗传学类实验室方法
Synonyms: Beta 球蛋白基因;β球蛋白基因;德雷斯巴赫氏贫血;血红蛋白 beta 链;血红蛋白 S 基因;血红蛋白 β链;镰刀形红细胞病;镰刀形红细胞贫血病;镰状细胞性贫血;镰状细胞血症;镰状血球贫血;黑里克氏贫血 C 型;丙;丙型 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 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 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 时刻;随机;随意;瞬间 血;血液 遗传基因;遗传因子;吉恩;生物基因

55240-6 HBB gene c.251G>A [Presence] in Blood by Molecular genetics method

Fully-Specified Name

Component
HBB gene.c.251G>A
Property
PrThr
Time
Pt
System
Bld
Scale
Ord
Method
Molgen

Additional Names

Short Name
HBB c.251G>A Bld Ql
Display Name
HBB gene c.251G>A Molgen Ql (Bld)
Consumer Name Alpha Get Info
HBB gene c.251G>A, Blood

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.27
Last Updated
Version 2.56
Change Reason
Changed Component part from c.G251A to c.251G>A to harmonize with HGVS nomenclature guidelines.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
55235-6 Abnormal hemoglobin gene panel - Blood by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen HBB c.G251A:PrThr:Punto temporal:Sangre:Ord:Genética molecular
es-MX Spanish (Mexico) Gen HBB c.251G> A:Presencia o umbral:Punto temporal:Sangre:Ordinal:Genética molecular
fr-FR French (France) HBB gène mutation c.251G>A:Présence/Seuil:Ponctuel:Sang:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) HBB, gene.c.251G>A:PrThr:Pt:Sangue:Ord:Molgen
Synonyms: Gene HBB Gene HBB c.251G>A Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue
nl-NL Dutch (Netherlands) HBB-gen.c.251G>A:aanwezigheid:moment:bloed:ordinaal:moleculair genetisch onderzoek
Synonyms: HBB gen HBB gen.c.251G>A molgen
pt-BR Portuguese (Brazil) HBB gene.c.G251A:#N/A:Pt:SgTotal:Ord:Genética molecular
Synonyms: HB Pyrgos; HB Mizumani; Hemoglobin S gene; Sickle cell anemia; Beta globulin gene; Hemoglobin beta chain; Arbitrary; Point in time; Random; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) HBB ген.c.251G>A:PrThr:ТчкВрм:Кр:Пор:МолГен
Synonyms: Кровь Порядковый Точка во времени;Момент
tr-TR Turkish (Turkey) HBB geni.c.251G>A:MevcEşik:Zmlı:Kan:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) HBB 基因.c.251G>A:存在情况或阈值:时间点:全血:序数型:分子遗传学类实验室方法
Synonyms: A 型 Beta 球蛋白基因;β球蛋白基因;德雷斯巴赫氏贫血;血红蛋白 beta 链;血红蛋白 S 基因;血红蛋白 β链;镰刀形红细胞病;镰刀形红细胞贫血病;镰状细胞性贫血;镰状细胞血症;镰状血球贫血;黑里克氏贫血 C 型;丙;丙型 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 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 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 时刻;随机;随意;瞬间 血;血液 遗传基因;遗传因子;吉恩;生物基因

55241-4 HBB gene c.19G>A [Presence] in Blood by Molecular genetics method

Fully-Specified Name

Component
HBB gene.c.19G>A
Property
PrThr
Time
Pt
System
Bld
Scale
Ord
Method
Molgen

Additional Names

Short Name
HBB c.19G>A Bld Ql
Display Name
HBB gene c.19G>A Molgen Ql (Bld)
Consumer Name Alpha Get Info
HBB gene c.19G>A, Blood

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.27
Last Updated
Version 2.56
Change Reason
Changed Component part from c.G19A to c.19G>A to harmonize with HGVS nomenclature guidelines.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
55235-6 Abnormal hemoglobin gene panel - Blood by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen HBB c.G19A:PrThr:Punto temporal:Sangre:Ord:Genética molecular
es-MX Spanish (Mexico) Gen HBB. C.19G> A:Presencia o umbral:Punto temporal:Sangre:Ordinal:Genética molecular
fr-FR French (France) HBB gène mutation c.19G>A:Présence/Seuil:Ponctuel:Sang:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) HBB, gene.c.19G>A:PrThr:Pt:Sangue:Ord:Molgen
Synonyms: Gene HBB Gene HBB c.19G>A Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue
nl-NL Dutch (Netherlands) HBB-gen.c.19G>A:aanwezigheid:moment:bloed:ordinaal:moleculair genetisch onderzoek
Synonyms: HBB gen HBB gen.c.19G>A molgen
pt-BR Portuguese (Brazil) HBB gene.c.G19A:#N/A:Pt:SgTotal:Ord:Genética molecular
Synonyms: HB C; Hemoglobin S gene; Sickle cell anemia; Beta globulin gene; Hemoglobin beta chain; Arbitrary; Point in time; Random; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) HBB ген.c.19G>A:PrThr:ТчкВрм:Кр:Пор:МолГен
Synonyms: Кровь Порядковый Точка во времени;Момент
tr-TR Turkish (Turkey) HBB geni.c.19G>A:MevcEşik:Zmlı:Kan:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) HBB 基因.c.19G>A:存在情况或阈值:时间点:全血:序数型:分子遗传学类实验室方法
Synonyms: A 型 Beta 球蛋白基因;β球蛋白基因;德雷斯巴赫氏贫血;血红蛋白 beta 链;血红蛋白 S 基因;血红蛋白 β链;镰刀形红细胞病;镰刀形红细胞贫血病;镰状细胞性贫血;镰状细胞血症;镰状血球贫血;黑里克氏贫血 C 型;丙;丙型 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 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 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 时刻;随机;随意;瞬间 血;血液 遗传基因;遗传因子;吉恩;生物基因

55242-2 HBB gene c.20A>T [Presence] in Blood by Molecular genetics method

Fully-Specified Name

Component
HBB gene.c.20A>T
Property
PrThr
Time
Pt
System
Bld
Scale
Ord
Method
Molgen

Additional Names

Short Name
HBB c.20A>T Bld Ql
Display Name
HBB gene c.20A>T Molgen Ql (Bld)
Consumer Name Alpha Get Info
HBB gene c.20A>T, Blood

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.27
Last Updated
Version 2.56
Change Reason
Changed Component part from c.A20T to c.20A>T to harmonize with HGVS nomenclature guidelines.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
55235-6 Abnormal hemoglobin gene panel - Blood by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen HBB c.A20T:PrThr:Punto temporal:Sangre:Ord:Genética molecular
es-MX Spanish (Mexico) Gen HBB. C.20A> T:Presencia o umbral:Punto temporal:Sangre:Ordinal:Genética molecular
fr-FR French (France) HBB gène mutation c.20A>T:Présence/Seuil:Ponctuel:Sang:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) HBB, gene.c.20A>T:PrThr:Pt:Sangue:Ord:Molgen
Synonyms: Gene HBB Gene HBB c.20A>T Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue
nl-NL Dutch (Netherlands) HBB-gen.c.20A>T:aanwezigheid:moment:bloed:ordinaal:moleculair genetisch onderzoek
Synonyms: HBB gen HBB gen.c.20A>T molgen
pt-BR Portuguese (Brazil) HBB gene.c.A20T:#N/A:Pt:SgTotal:Ord:Genética molecular
Synonyms: Hemoglobin S gene; Sickle cell anemia; Beta globulin gene; Hemoglobin beta chain; Arbitrary; Point in time; Random; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) HBB ген.c.20A>T:PrThr:ТчкВрм:Кр:Пор:МолГен
Synonyms: Кровь Порядковый Точка во времени;Момент
tr-TR Turkish (Turkey) HBB geni.c.20A>T:MevcEşik:Zmlı:Kan:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) HBB 基因.c.20A>T:存在情况或阈值:时间点:全血:序数型:分子遗传学类实验室方法
Synonyms: Beta 球蛋白基因;β球蛋白基因;德雷斯巴赫氏贫血;血红蛋白 beta 链;血红蛋白 S 基因;血红蛋白 β链;镰刀形红细胞病;镰刀形红细胞贫血病;镰状细胞性贫血;镰状细胞血症;镰状血球贫血;黑里克氏贫血 C 型;丙;丙型 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 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 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 时刻;随机;随意;瞬间 血;血液 遗传基因;遗传因子;吉恩;生物基因

55243-0 HBB gene c.364G>C [Presence] in Blood by Molecular genetics method

Fully-Specified Name

Component
HBB gene.c.364G>C
Property
PrThr
Time
Pt
System
Bld
Scale
Ord
Method
Molgen

Additional Names

Short Name
HBB c.364G>C Bld Ql
Display Name
HBB gene c.364G>C Molgen Ql (Bld)
Consumer Name Alpha Get Info
HBB gene c.364G>C, Blood

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.27
Last Updated
Version 2.56
Change Reason
Changed Component part from c.G364C to c.364G>C to harmonize with HGVS nomenclature guidelines.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
55235-6 Abnormal hemoglobin gene panel - Blood by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen HBB c.G364C:PrThr:Punto temporal:Sangre:Ord:Genética molecular
es-MX Spanish (Mexico) Gen HBB c.364G> C:Presencia o umbral:Punto temporal:Sangre:Ordinal:Genética molecular
fr-FR French (France) HBB gène mutation c.364G>C:Présence/Seuil:Ponctuel:Sang:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) HBB, gene.c.364G>C:PrThr:Pt:Sangue:Ord:Molgen
Synonyms: Gene HBB Gene HBB c.364G>C Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue
nl-NL Dutch (Netherlands) HBB-gen.c.364G>C:aanwezigheid:moment:bloed:ordinaal:moleculair genetisch onderzoek
Synonyms: HBB gen HBB gen.c.364G>C molgen
pt-BR Portuguese (Brazil) HBB gene.c.G364C:#N/A:Pt:SgTotal:Ord:Genética molecular
Synonyms: HB D PunjAc; HB D-Chicago; HB D-North Carolina; HB D-Portugal; HB Oak Ridge; Hemoglobin S gene; Sickle cell anemia; Beta globulin gene; Hemoglobin beta chain; Arbitrary; Point in time; Random; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) HBB ген.c.364G>C:PrThr:ТчкВрм:Кр:Пор:МолГен
Synonyms: Кровь Порядковый Точка во времени;Момент
tr-TR Turkish (Turkey) HBB geni.c.364G>C:MevcEşik:Zmlı:Kan:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) HBB 基因.c.364G>C:存在情况或阈值:时间点:全血:序数型:分子遗传学类实验室方法
Synonyms: Beta 球蛋白基因;β球蛋白基因;德雷斯巴赫氏贫血;血红蛋白 beta 链;血红蛋白 S 基因;血红蛋白 β链;镰刀形红细胞病;镰刀形红细胞贫血病;镰状细胞性贫血;镰状细胞血症;镰状血球贫血;黑里克氏贫血 C 型;丙;丙型 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 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 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 时刻;随机;随意;瞬间 血;血液 遗传基因;遗传因子;吉恩;生物基因

55244-8 HPFH-6 gene [Presence] in Blood by Molecular genetics method

Fully-Specified Name

Component
HPFH-6 gene
Property
Arb
Time
Pt
System
Bld
Scale
Ord
Method
Molgen

Additional Names

Short Name
HPFH-6 gene Bld Ql
Display Name
HPFH-6 gene Molgen Ql (Bld)
Consumer Name Alpha Get Info
HPFH-6 gene, Blood

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.27
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
18094

Member of these Panels

LOINC Long Common Name
55235-6 Abnormal hemoglobin gene panel - Blood by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen HPFH-6:Arbitrario:Punto temporal:Sangre:Ord:Genética molecular
es-MX Spanish (Mexico) Gen HPFH-6:Arbitrario:Punto temporal:Sangre:Ordinal:Genética molecular
fr-FR French (France) HPFH-6 gène:Arbitraire:Ponctuel:Sang:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) HPFH-6, gene:Arb:Pt:Sangue:Ord:Molgen
Synonyms: Arbitrario Gene HPFH-6 Genetica molecolare Mutazione genica Patologia molecolare Punto nel tempo (episodio) Sangue
nl-NL Dutch (Netherlands) HPFH-6-gen:aanwezigheid:moment:bloed:ordinaal:moleculair genetisch onderzoek
Synonyms: HPFH-6 gen molgen
pt-BR Portuguese (Brazil) HPFH-6 gene:#N/A:Pt:SgTotal:Ord:Genética molecular
Synonyms: ThaiGgama(AgammadeltAceta)0-Thal; Arbitrary; Point in time; Random; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) HPFH-6 ген:Произв:ТчкВрм:Кр:Пор:МолГен
Synonyms: Кровь Порядковый Произвольный Точка во времени;Момент
tr-TR Turkish (Turkey) HPFH-6 geni:Sç:Zmlı:Kan:Srl:Molgen
zh-CN Chinese (China) HPFH-6 基因:任意型:时间点:全血:序数型:分子遗传学类实验室方法
Synonyms: hereditary persistence of fetal hemoglobin type-6;HPFH-6;遗传性胎儿血红蛋白持存综合征;胎儿血红蛋白持存综合征;hereditary persistence of fetal hemoglobin;HPFH 任意;任意的;人工型 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 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 时刻;随机;随意;瞬间 血;血液 遗传基因;遗传因子;吉恩;生物基因

55245-5 HBB gene c.220G>A [Presence] in Blood by Molecular genetics method

Fully-Specified Name

Component
HBB gene.c.220G>A
Property
PrThr
Time
Pt
System
Bld
Scale
Ord
Method
Molgen

Additional Names

Short Name
HBB c.220G>A Bld Ql
Display Name
HBB gene c.220G>A Molgen Ql (Bld)
Consumer Name Alpha Get Info
HBB gene c.220G>A, Blood

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.27
Last Updated
Version 2.56
Change Reason
Changed Component part from c.G220A to c.220G>A to harmonize with HGVS nomenclature guidelines.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
55235-6 Abnormal hemoglobin gene panel - Blood by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen HBB c.G220A:PrThr:Punto temporal:Sangre:Ord:Genética molecular
es-MX Spanish (Mexico) Gen HBB c.220G> A:Presencia o umbral:Punto temporal:Sangre:Ordinal:Genética molecular
fr-FR French (France) HBB gène mutation c.220G>A:Présence/Seuil:Ponctuel:Sang:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) HBB, gene.c.220G>A:PrThr:Pt:Sangue:Ord:Molgen
Synonyms: Gene HBB Gene HBB c.220G>A Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue
nl-NL Dutch (Netherlands) HBB-gen.c.220G>A:aanwezigheid:moment:bloed:ordinaal:moleculair genetisch onderzoek
Synonyms: HBB gen HBB gen.c.220G>A molgen
pt-BR Portuguese (Brazil) HBB gene.c.G220A:#N/A:Pt:SgTotal:Ord:Genética molecular
Synonyms: HB Korle-Bu; HB G-Accra; Hemoglobin S gene; Sickle cell anemia; Beta globulin gene; Hemoglobin beta chain; Arbitrary; Point in time; Random; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) HBB ген.c.220G>A:PrThr:ТчкВрм:Кр:Пор:МолГен
Synonyms: Кровь Порядковый Точка во времени;Момент
tr-TR Turkish (Turkey) HBB geni.c.220G>A:MevcEşik:Zmlı:Kan:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) HBB 基因.c.220G>A:存在情况或阈值:时间点:全血:序数型:分子遗传学类实验室方法
Synonyms: A 型 Beta 球蛋白基因;β球蛋白基因;德雷斯巴赫氏贫血;血红蛋白 beta 链;血红蛋白 S 基因;血红蛋白 β链;镰刀形红细胞病;镰刀形红细胞贫血病;镰状细胞性贫血;镰状细胞血症;镰状血球贫血;黑里克氏贫血 C 型;丙;丙型 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 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 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 时刻;随机;随意;瞬间 血;血液 遗传基因;遗传因子;吉恩;生物基因

55246-3 HBA2 gene c.84G>C [Presence] in Blood by Molecular genetics method

Fully-Specified Name

Component
HBA2 gene.c.84G>C
Property
PrThr
Time
Pt
System
Bld
Scale
Ord
Method
Molgen

Additional Names

Short Name
HBA2 c.84G>C Bld Ql
Display Name
HBA2 gene c.84G>C Molgen Ql (Bld)
Consumer Name Alpha Get Info
HBA2 gene c.84G>C, Blood

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.27
Last Updated
Version 2.56
Change Reason
Changed Component part from c.G84C to c.84G>C to harmonize with HGVS nomenclature guidelines.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
55235-6 Abnormal hemoglobin gene panel - Blood by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen HBA2 c.G84C:PrThr:Punto temporal:Sangre:Ord:Genética molecular
es-MX Spanish (Mexico) HBA2 gene.c.84G> C:Presencia o umbral:Punto temporal:Sangre:Ordinal:Genética molecular
fr-FR French (France) HBA2 gène mutation c.84G>C:Présence/Seuil:Ponctuel:Sang:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) HBA2, gene.c.84G>C:PrThr:Pt:Sangue:Ord:Molgen
Synonyms: Gene HBA2 Gene HBA2 c.84G>C Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue
nl-NL Dutch (Netherlands) HBA2-gen.c.84G>C:aanwezigheid:moment:bloed:ordinaal:moleculair genetisch onderzoek
Synonyms: HBA2 gen HBA2 gen.c.84G>C molgen
pt-BR Portuguese (Brazil) HBA2 gene.c.G84C:#N/A:Pt:SgTotal:Ord:Genética molecular
Synonyms: HB Hekinan; Arbitrary; Point in time; Random; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) HBA2 ген.c.84G>C:PrThr:ТчкВрм:Кр:Пор:МолГен
Synonyms: Кровь Порядковый Точка во времени;Момент
tr-TR Turkish (Turkey) HBA2 geni.c.84G>C:MevcEşik:Zmlı:Kan:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) HBA2 基因.c.84G>C:存在情况或阈值:时间点:全血:序数型:分子遗传学类实验室方法
Synonyms: C 型;丙;丙型 HBA1;alpha 2 globin;alpha globin;alpha-2 globin;hemoglobin, alpha 2;alpha 2 球蛋白;alpha 球蛋白;alpha-2 球蛋白;血红蛋白, alpha 2;α2 球蛋白;α球蛋白;α-2 球蛋白;血红蛋白, α2 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 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 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 时刻;随机;随意;瞬间 血;血液 遗传基因;遗传因子;吉恩;生物基因

55247-1 HBA1 gene c.223G>C [Presence] in Blood by Molecular genetics method

Fully-Specified Name

Component
HBA1 gene.c.223G>C
Property
PrThr
Time
Pt
System
Bld
Scale
Ord
Method
Molgen

Additional Names

Short Name
HBA1 c.223G>C Bld Ql
Display Name
HBA1 gene c.223G>C Molgen Ql (Bld)
Consumer Name Alpha Get Info
HBA1 gene c.223G>C, Blood

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.27
Last Updated
Version 2.56
Change Reason
Changed Component part from c.G223C to c.223G>C to harmonize with HGVS nomenclature guidelines.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
55235-6 Abnormal hemoglobin gene panel - Blood by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen HBA1 c. G223C:PrThr:Punto temporal:Sangre:Ord:Genética molecular
es-MX Spanish (Mexico) HBA1 gene.c.223G> C:Presencia o umbral:Punto temporal:Sangre:Ordinal:Genética molecular
fr-FR French (France) HBA1 gène mutation c.223G>C:Présence/Seuil:Ponctuel:Sang:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) HBA1.c.223G>C, gene:PrThr:Pt:Sangue:Ord:Molgen
Synonyms: Gene HBA1 Gene HBA1 c.223G>C Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue
nl-NL Dutch (Netherlands) HBA1-gen.c.223G>C:aanwezigheid:moment:bloed:ordinaal:moleculair genetisch onderzoek
Synonyms: HBA1 gen HBA1 gen.c.223G>C molgen
pt-BR Portuguese (Brazil) HBA1 gene.c.G223C:#N/A:Pt:SgTotal:Ord:Genética molecular
Synonyms: Hb Q-Thailand; Hb AsAcara; HB G-Taichung; HB Kurashiki-I; HB Mahidol; Alpha globulin of hemoglobin; Thalassemia alpha; Hemoglobin, alpha 1; Arbitrary; Point in time; Random; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) HBA1 ген.c.223G>C:PrThr:ТчкВрм:Кр:Пор:МолГен
Synonyms: Кровь Порядковый Точка во времени;Момент
tr-TR Turkish (Turkey) HBA1 geni.c.223G>C:MevcEşik:Zmlı:Kan:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) HBA1 基因.c.223G>C:存在情况或阈值:时间点:全血:序数型:分子遗传学类实验室方法
Synonyms: C 型;丙;丙型 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 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 地中海贫血 alpha;地中海贫血α;地中海贫血症 alpha;地中海贫血症α;血红蛋白, alpha 1;血红蛋白, α1;血红蛋白的 alpha 球蛋白;血红蛋白的α球蛋白 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 时刻;随机;随意;瞬间 血;血液 遗传基因;遗传因子;吉恩;生物基因

55248-9 HBB gene c.79G>A [Presence] in Blood by Molecular genetics method

Fully-Specified Name

Component
HBB gene.c.79G>A
Property
PrThr
Time
Pt
System
Bld
Scale
Ord
Method
Molgen

Additional Names

Short Name
HBB c.79G>A Bld Ql
Display Name
HBB gene c.79G>A Molgen Ql (Bld)
Consumer Name Alpha Get Info
HBB gene c.79G>A, Blood

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.27
Last Updated
Version 2.73
Change Reason
Changed Component part from c.G79A to c.79G>A to harmonize with HGVS nomenclature guidelines.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation
Observation
Common Test Rank Get Info
18238

Member of these Panels

LOINC Long Common Name
55235-6 Abnormal hemoglobin gene panel - Blood by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Gen HBB c. 79G> A:Presencia o umbral:Punto temporal:Sangre:Ordinal:Genética molecular
es-ES Spanish (Spain) Gen HBB c.G79A:PrThr:Punto temporal:Sangre:Ord:Genética molecular
fr-FR French (France) HBB gène mutation c.79G>A:Présence/Seuil:Ponctuel:Sang:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) HBB, gene.c.79G>A:PrThr:Pt:Sangue:Ord:Molgen
Synonyms: Gene HBB Gene HBB c.79G>A Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue
nl-NL Dutch (Netherlands) HBB-gen.c.79G>A:aanwezigheid:moment:bloed:ordinaal:moleculair genetisch onderzoek
Synonyms: HBB gen HBB gen.c.79G>A molgen
pt-BR Portuguese (Brazil) HBB gene.c.G79A:#N/A:Pt:SgTotal:Ord:Genética molecular
Synonyms: HB E; Hemoglobin S gene; Sickle cell anemia; Beta globulin gene; Hemoglobin beta chain; Arbitrary; Point in time; Random; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) HBB ген.c.79G>A:PrThr:ТчкВрм:Кр:Пор:МолГен
Synonyms: Кровь Порядковый Точка во времени;Момент
tr-TR Turkish (Turkey) HBB geni.c.79G>A:MevcEşik:Zmlı:Kan:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) HBB 基因.c.79G>A:存在情况或阈值:时间点:全血:序数型:分子遗传学类实验室方法
Synonyms: A 型 Beta 球蛋白基因;β球蛋白基因;德雷斯巴赫氏贫血;血红蛋白 beta 链;血红蛋白 S 基因;血红蛋白 β链;镰刀形红细胞病;镰刀形红细胞贫血病;镰状细胞性贫血;镰状细胞血症;镰状血球贫血;黑里克氏贫血 C 型;丙;丙型 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 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 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 时刻;随机;随意;瞬间 血;血液 遗传基因;遗传因子;吉恩;生物基因