Version 2.78

49637-2 HTT gene allele 1.CAG repeats [Entitic number] in Blood or Tissue by Molecular genetics method

Observation Required in Panel

Optional

Fully-Specified Name

Component
HTT gene allele 1.CAG repeats
Property
EntNum
Time
Pt
System
Bld/Tiss
Scale
Qn
Method
Molgen

Additional Names

Short Name
HTT allele 1 CAG Rpt EntNum Bld/T
Display Name
HTT gene allele 1.CAG repeats Molgen (Bld/Tiss) [Entitic number]
Consumer Name Alpha Get Info
HTT gene Allele 1 CAG Repeats, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.NUCREPEAT
Type
Laboratory
First Released
Version 2.22
Last Updated
Version 2.73
Change Reason
Changed gene name from HD to HTT, the current (2012) approved HUGO gene name. June 2015: Moved term from Class MOLPATH.TRINUC to MOLPATH.NUCREPEAT, a Class used to group together observations for nucleotide repeats.
Order vs. Observation
Both
Common Test Rank Get Info
9546

Member of these Panels

LOINC Long Common Name
53783-7 HTT gene mutation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) El alelo 1 del gen HTT se repite CAG:Número entitic:Punto temporal:Sangre o tejido:Cuantitativo:Genética molecular
es-ES Spanish (Spain) Gen HD alelo 1. Repeticiones de CAG:Número entítico:Punto temporal:Sangre o tejido:Qn:Genética molecular
Synonyms: Cuantitativo
fr-FR French (France) HTT gène allèle 1 répétitions CAG:Nombre/entité:Ponctuel:Sang/Tissu:Numérique:Biologie moléculaire
it-IT Italian (Italy) HD, allele 1 gene.ripetizioni CAG:EntNum:Pt:Sangue/Tess:Qn:Molgen
Synonyms: Gene HD Genetica molecolare Numero entitico Patologia molecolare Punto nel tempo (episodio) Ripetizione nucleotidi Ripetizioni CAG dell''allele 1 del gene HD Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) HTT-allel 1.CAG repeats:aantal/eenheid:moment:bloed of weefsel:kwantitatief:moleculair genetisch onderzoek
Synonyms: HTT gen molgen
pt-BR Portuguese (Brazil) HD gene alelo 1.CAG repetições:EntNum:Pt:Sg/Tecido:Qn:Genética molecular
Synonyms: ; HD allele 1 CAG Rpt; Huntington disease; IT15; Huntington chorea; Entitic number; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; PCR; Molecular genetics; Repeat; I; MOLPATH.TRINUCLEOTIDE REPEATS; MOLPATH.TRINUCLEOTIDE REPEATS; Molecular pathology
ru-RU Russian (Russian Federation) HTT ген аллель 1.CAG повторы:СущнЧисл:ТчкВрм:Кр/Тк:Колич:МолГен
Synonyms: Количественный Кровь Кровь или Ткань Сущность число;Число сущностей Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) HD geni allel 1.CAG tekrarları:EntSay:Zmlı:Kan/Dk:Kant:Molgen
zh-CN Chinese (China) HTT 基因 等位基因 1.CAG 重复序列:实体数量:时间点:全血/组织:定量型:分子遗传学类实验室方法
Synonyms: Ⅰ HD allele 1 CAG Rpt;HD 等位基因 1 CAG Rpt;HD 等位基因 1 CAG 重复序列;HD 基因 等位基因 1.CAG 重复序列;Huntington 舞蹈病;IT15;亨廷登病;亨廷登舞蹈病;亨廷顿病;亨廷顿舞蹈病;哈特克病;哈特克舞蹈病;杭廷顿氏舞蹈症;HD 基因 Huntington 舞蹈病;IT15;亨廷登病;亨廷登舞蹈病;亨廷顿病;亨廷顿舞蹈病;哈特克病;哈特克舞蹈病;杭廷顿氏舞蹈症;HD 基因 I 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 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 实体计数 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因 重复

Example Units

Unit Source
{CAG_repeats} Example UCUM Units
CAG repeats REGENSTRIEF

49638-0 HTT gene allele 2.CAG repeats [Entitic number] in Blood or Tissue by Molecular genetics method

Observation Required in Panel

Optional

Fully-Specified Name

Component
HTT gene allele 2.CAG repeats
Property
EntNum
Time
Pt
System
Bld/Tiss
Scale
Qn
Method
Molgen

Additional Names

Short Name
HTT allele 2 CAG Rpt EntNum Bld/T
Display Name
HTT gene allele 2.CAG repeats Molgen (Bld/Tiss) [Entitic number]
Consumer Name Alpha Get Info
HTT gene Allele 2 CAG Repeats, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.NUCREPEAT
Type
Laboratory
First Released
Version 2.22
Last Updated
Version 2.73
Change Reason
Changed gene name from HD to HTT, the current (2012) approved HUGO gene name. June 2015: Moved term from Class MOLPATH.TRINUC to MOLPATH.NUCREPEAT, a Class used to group together observations for nucleotide repeats.
Order vs. Observation
Both
Common Test Rank Get Info
9547

Member of these Panels

LOINC Long Common Name
53783-7 HTT gene mutation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Alelo 2 del gen HTT repeticiones CAG:Número entitic:Punto temporal:Sangre o tejido:Cuantitativo:Genética molecular
es-ES Spanish (Spain) Gen HD alelo 2. Repeticiones de CAG:Número entítico:Punto temporal:Sangre o tejido:Qn:Genética molecular
Synonyms: Cuantitativo
fr-FR French (France) HTT gène allèle 2 répétitions CAG:Nombre/entité:Ponctuel:Sang/Tissu:Numérique:Biologie moléculaire
it-IT Italian (Italy) HD, allele 2 gene.ripetizioni CAG:EntNum:Pt:Sangue/Tess:Qn:Molgen
Synonyms: Gene HD Genetica molecolare Numero entitico Patologia molecolare Punto nel tempo (episodio) Ripetizione nucleotidi Ripetizioni CAG dell''allele 2 del gene HD Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) HTT-allel 2.CAG repeats:aantal/eenheid:moment:bloed of weefsel:kwantitatief:moleculair genetisch onderzoek
Synonyms: HTT gen molgen
pt-BR Portuguese (Brazil) HD gene alelo 2.CAG repetições:EntNum:Pt:Sg/Tecido:Qn:Genética molecular
Synonyms: ; HD allele 2 CAG Rpt; Huntington disease; IT15; Huntington chorea; Entitic number; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; PCR; Molecular genetics; Repeat; II; MOLPATH.TRINUCLEOTIDE REPEATS; MOLPATH.TRINUCLEOTIDE REPEATS; Molecular pathology
ru-RU Russian (Russian Federation) HTT ген аллель 2.CAG повторы:СущнЧисл:ТчкВрм:Кр/Тк:Колич:МолГен
Synonyms: Количественный Кровь Кровь или Ткань Сущность число;Число сущностей Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) HD geni allel 2.CAG tekrarları:EntSay:Zmlı:Kan/Dk:Kant:Molgen
zh-CN Chinese (China) HTT 基因 等位基因 2.CAG 重复序列:实体数量:时间点:全血/组织:定量型:分子遗传学类实验室方法
Synonyms: Ⅱ HD allele 2 CAG Rpt;HD 等位基因 2 CAG Rpt;HD 等位基因 2 CAG 重复序列;HD 基因 等位基因 2.CAG 重复序列;Huntington 舞蹈病;IT15;亨廷登病;亨廷登舞蹈病;亨廷顿病;亨廷顿舞蹈病;哈特克病;哈特克舞蹈病;杭廷顿氏舞蹈症;HD 基因 Huntington 舞蹈病;IT15;亨廷登病;亨廷登舞蹈病;亨廷顿病;亨廷顿舞蹈病;哈特克病;哈特克舞蹈病;杭廷顿氏舞蹈症;HD 基因 II 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 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 实体计数 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因 重复

Example Units

Unit Source
{CAG_repeats} Example UCUM Units
CAG repeats REGENSTRIEF

53782-9 HTT gene CAG repeats [Entitic number] in Blood or Tissue by Molecular genetics method

Part Descriptions

LP19792-8   HTT gene.CAG repeats
Expansion of the CAG triplet repeat in the HTT gene (also known as IT15 or HD gene) causes Huntington disease (HD), a progressive brain disorder that causes uncontrolled movements, emotional changes, and loss of cognition. The HTT gene is located on chromosome 4 and position p16.3. The expanded CAG segment leads to the production of an abnormally long version of the huntingtin protein. People with Huntington disease have 36 to more than 120 CAG repeats. People with 36 to 39 CAG repeats may or may not develop the signs and symptoms of Huntington disease, while people with 40 or more repeats almost always develop the disorder. Source: Genetic Home Reference, National Library of Medicine, HTT gene

Observation Required in Panel

Optional

Fully-Specified Name

Component
HTT gene.CAG repeats
Property
EntNum
Time
Pt
System
Bld/Tiss
Scale
Qn
Method
Molgen

Additional Names

Short Name
HTT gene CAG Rpt EntNum Bld/T
Display Name
HTT gene CAG repeats Molgen (Bld/Tiss) [Entitic number]
Consumer Name Alpha Get Info
HTT gene CAG Repeats, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.NUCREPEAT
Type
Laboratory
First Released
Version 2.26
Last Updated
Version 2.64
Change Reason
Changed gene name from HD to HTT, the current (2012) approved HUGO gene name.
Order vs. Observation
Both

Member of these Panels

LOINC Long Common Name
53783-7 HTT gene mutation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) HTT gene.CAG repeticiones:Número entitic:Punto temporal:Sangre o tejido:Cuantitativo:Genética molecular
es-ES Spanish (Spain) Repeticiones CAG del gen HTT:Número entítico:Punto temporal:Sangre o tejido:Qn:Genética molecular
Synonyms: Cuantitativo
fr-FR French (France) HTT gène répétitions CAG:Nombre/entité:Ponctuel:Sang/Tissu:Numérique:Biologie moléculaire
it-IT Italian (Italy) HD gene.CAG ripetizioni:EntNum:Pt:Sangue/Tess:Qn:Molgen
Synonyms: Gene HD Genetica molecolare Numero entitico Patologia molecolare Punto nel tempo (episodio) Ripetizione nucleotidi Ripetizioni CAG del gene HD Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) HTT-gen.CAG repeats:aantal/eenheid:moment:bloed of weefsel:kwantitatief:moleculair genetisch onderzoek
Synonyms: HTT gen HTT gen.CAG repeats molgen
pt-BR Portuguese (Brazil) HD gene.CAG repetições:EntNum:Pt:Sg/Tecido:Qn:Genética molecular
Synonyms: ; HD gene CAG Rpt; Huntington disease; IT15; Huntington chorea; Entitic number; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; PCR; Molecular genetics; Repeat; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) HTT ген.CAG повторы:СущнЧисл:ТчкВрм:Кр/Тк:Колич:МолГен
Synonyms: Количественный Кровь Кровь или Ткань Сущность число;Число сущностей Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) HD geni.CAG tekrarları:EntSay:Zmlı:Kan/Dk:Kant:Molgen
zh-CN Chinese (China) HTT 基因.CAG 重复序列:实体数量:时间点:全血/组织:定量型:分子遗传学类实验室方法
Synonyms: HD 基因.CAG 重复序列;Huntington 舞蹈病;IT15;亨廷登病;亨廷登舞蹈病;亨廷顿病;亨廷顿舞蹈病;哈特克病;哈特克舞蹈病;杭廷顿氏舞蹈症;HD 基因 Huntington 舞蹈病;IT15;亨廷登病;亨廷登舞蹈病;亨廷顿病;亨廷顿舞蹈病;哈特克病;哈特克舞蹈病;杭廷顿氏舞蹈症;HD 基因 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 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 实体计数 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因 重复

Example Units

Unit Source
{CAG_repeats} Example UCUM Units
CAG repeats REGENSTRIEF

21763-8 HTT gene CAG repeats [Presence] in Blood or Tissue by Molecular genetics method

Term Description

Copy number >36 is considered abnormal and an indication of Huntington disease (HD).
Source: Regenstrief LOINC

Part Descriptions

LP19792-8   HTT gene.CAG repeats
Expansion of the CAG triplet repeat in the HTT gene (also known as IT15 or HD gene) causes Huntington disease (HD), a progressive brain disorder that causes uncontrolled movements, emotional changes, and loss of cognition. The HTT gene is located on chromosome 4 and position p16.3. The expanded CAG segment leads to the production of an abnormally long version of the huntingtin protein. People with Huntington disease have 36 to more than 120 CAG repeats. People with 36 to 39 CAG repeats may or may not develop the signs and symptoms of Huntington disease, while people with 40 or more repeats almost always develop the disorder. Source: Genetic Home Reference, National Library of Medicine, HTT gene

Observation Required in Panel

Optional

Fully-Specified Name

Component
HTT gene.CAG repeats
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
HTT gene CAG Rpt Bld/T Ql
Display Name
HTT gene CAG repeats Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
HTT gene CAG Repeats, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.NUCREPEAT
Type
Laboratory
First Released
Version 1.0m
Last Updated
Version 2.73
Change Reason
Changed gene name from HD to HTT, the current (2012) approved HUGO gene name. June 2015: Changed Property from Arb (Arbitrary) to 'Threshold' since the results (e.g. positive, intermediate, negative) is based on the number of nucleotide repeats. Moved term from Class MOLPATH.TRINUC to MOLPATH.NUCREPEAT, a Class used to group together observations for nucleotide repeats.; 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
Both
Common Test Rank Get Info
11842

Example Answer List LL2303-7

Answer Code Score Answer ID
Not Expanded LA19353-4
Intermediate LA16550-8
Reduced penetrance LA19354-2
Expanded LA19352-6

Member of these Panels

LOINC Long Common Name
53783-7 HTT gene mutation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-AR Spanish (Argentina) gen HD.repeticiones CAG:arbitrario:punto en el tiempo:sangre entera/tejido:ordinal:genética molecular
es-MX Spanish (Mexico) HTT gene.CAG repeticiones:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
es-ES Spanish (Spain) Repeticiones CAG del gen HTT:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
fr-FR French (France) HTT gène répétitions CAG:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) HD gene.CAG ripetizioni:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Gene HD Genetica molecolare Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Ripetizione nucleotidi Ripetizioni CAG del gene HD Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) HD 유전자.CAG 반복:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NL Dutch (Netherlands) HTT-gen.CAG repeats:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: HTT gen HTT gen.CAG repeats molgen
pt-BR Portuguese (Brazil) HD gene.CAG repetições:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: ; HD gene CAG Rpt; Huntington disease; IT15; Huntington chorea; Arbitrary; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; Repeat; MOLPATH.TRINUCLEOTIDE REPEATS; MOLPATH.TRINUCLEOTIDE REPEATS; Molecular pathology
ru-RU Russian (Russian Federation) HTT ген.CAG повторы:PrThr:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) HD geni.CAG tekrarları:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) HTT 基因.CAG 重复序列:存在情况或阈值:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: HD 基因.CAG 重复序列;Huntington 舞蹈病;IT15;亨廷登病;亨廷登舞蹈病;亨廷顿病;亨廷顿舞蹈病;哈特克病;哈特克舞蹈病;杭廷顿氏舞蹈症;HD 基因 Huntington 舞蹈病;IT15;亨廷登病;亨廷登舞蹈病;亨廷顿病;亨廷顿舞蹈病;哈特克病;哈特克舞蹈病;杭廷顿氏舞蹈症;HD 基因 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 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 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因 重复

50621-2 HTT gene targeted mutation analysis in Blood or Tissue by Molecular genetics method

Part Descriptions

LP36037-7   HTT gene
The HTT gene (huntingtin) [HGNC Gene ID:4851] is located on chromosome 4p16.3. Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range in the number of trinucleotide repeats has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntington's disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5' UTR that inhibits expression of the huntingtin gene product through translational repression.[provided by RefSeq, Jul 2008] [NCBI Gene ID:3064] Source: National Center for Biotechnology Information (NCBI) Gene, HTT gene

Observation Required in Panel

Required

Fully-Specified Name

Component
HTT gene targeted mutation analysis
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Molgen

Additional Names

Short Name
HTT gene Mut Anl Bld/T
Display Name
HTT gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
HTT gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.22
Last Updated
Version 2.73
Change Reason
Changed gene name from HD to HTT, the current (2012) approved HUGO gene name.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
Order vs. Observation
Both
Common Test Rank Get Info
10349

Member of these Panels

LOINC Long Common Name
53783-7 HTT gene mutation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
de-AT German (Austria) Synonyms: Chorea Huntingt.Mut.
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen HTT:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
es-ES Spanish (Spain) Gen HD Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
fr-FR French (France) HTT gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
fr-CA French (Canada) Gène HTT ciblé, analyse de la mutation:Observation:Temps ponctuel:Sang/Tissu:Document:Molgen
it-IT Italian (Italy) HD, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Gene HD Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) HTT-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: HTT gen molgen targeted
pt-BR Portuguese (Brazil) HD análise de mutação genética:Ident:Pt:Sg/Tecido:Nar:Genética molecular
Synonyms: Huntington disease; IT15; Huntington chorea; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Narrative; Report; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) HTT ген исследование на мутацию:Находка:ТчкВрм:Кр/Тк:Док:МолГен
Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) HD geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
uk-UA Ukrainian (Ukraine) HTT ген аналіз цільової мутації:Знахідка:МоментЧасу:Кров/Тканини:Документ:Молекулярна генетика
Synonyms: 5HTT; 5-HTT; 5-HTTLPR; Blood; Document; Finding; Findings; Genetics; HD gene; Heredity; Heritable; hSERT; HTT; huntingtin; Huntington chorea; Huntington disease; Huntington's disease; Inherited; IT15; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Anl; Mutations; OCD1; PCR; Point in time; Random; SERT; SERT1; solute carrier family 6 (neurotransmitter transporter), member 4; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue
zh-CN Chinese (China) HTT 基因 突变分析:发现:时间点:全血/组织:文档型:分子遗传学类实验室方法
Synonyms: Huntington 舞蹈病;IT15;亨廷登病;亨廷登舞蹈病;亨廷顿病;亨廷顿舞蹈病;哈特克病;哈特克舞蹈病;杭廷顿氏舞蹈症;HD 基因 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 全血或组织;血液/组织;血液或组织 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 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 基因突变分析 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因