53783-7
HTT gene mutation panel - Blood or Tissue by Molecular genetics method
Active
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: |
| es-ES | Spanish (Spain) | Gen HD alelo 1. Repeticiones de CAG: Synonyms: Cuantitativo |
| fr-FR | French (France) | HTT gène allèle 1 répétitions CAG: |
| it-IT | Italian (Italy) | HD, allele 1 gene.ripetizioni CAG: 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 & |
| nl-NL | Dutch (Netherlands) | HTT-allel 1.CAG repeats: Synonyms: HTT gen molgen |
| pt-BR | Portuguese (Brazil) | HD gene alelo 1.CAG repetições: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | HTT ген аллель 1.CAG повторы: Synonyms: Количественный Кровь Кровь или Ткань Сущность число; |
| tr-TR | Turkish (Turkey) | HD geni allel 1.CAG tekrarları: |
| zh-CN | Chinese (China) | HTT 基因 等位基因 1.CAG 重复序列: Synonyms: Ⅰ HD allele 1 CAG Rpt; |
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: |
| es-ES | Spanish (Spain) | Gen HD alelo 2. Repeticiones de CAG: Synonyms: Cuantitativo |
| fr-FR | French (France) | HTT gène allèle 2 répétitions CAG: |
| it-IT | Italian (Italy) | HD, allele 2 gene.ripetizioni CAG: 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 & |
| nl-NL | Dutch (Netherlands) | HTT-allel 2.CAG repeats: Synonyms: HTT gen molgen |
| pt-BR | Portuguese (Brazil) | HD gene alelo 2.CAG repetições: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | HTT ген аллель 2.CAG повторы: Synonyms: Количественный Кровь Кровь или Ткань Сущность число; |
| tr-TR | Turkish (Turkey) | HD geni allel 2.CAG tekrarları: |
| zh-CN | Chinese (China) | HTT 基因 等位基因 2.CAG 重复序列: Synonyms: Ⅱ HD allele 2 CAG Rpt; |
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: |
| es-ES | Spanish (Spain) | Repeticiones CAG del gen HTT: Synonyms: Cuantitativo |
| fr-FR | French (France) | HTT gène répétitions CAG: |
| it-IT | Italian (Italy) | HD gene.CAG ripetizioni: 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 & |
| nl-NL | Dutch (Netherlands) | HTT-gen.CAG repeats: Synonyms: HTT gen HTT gen.CAG repeats molgen |
| pt-BR | Portuguese (Brazil) | HD gene.CAG repetições: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | HTT ген.CAG повторы: Synonyms: Количественный Кровь Кровь или Ткань Сущность число; |
| tr-TR | Turkish (Turkey) | HD geni.CAG tekrarları: |
| zh-CN | Chinese (China) | HTT 基因.CAG 重复序列: Synonyms: HD 基因.CAG 重复序列; |
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: |
| es-MX | Spanish (Mexico) | HTT gene.CAG repeticiones: |
| es-ES | Spanish (Spain) | Repeticiones CAG del gen HTT: |
| fr-FR | French (France) | HTT gène répétitions CAG: |
| it-IT | Italian (Italy) | HD gene.CAG ripetizioni: 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 & |
| ko-KR | Korean (Korea, Republic Of) | HD 유전자.CAG 반복: |
| nl-NL | Dutch (Netherlands) | HTT-gen.CAG repeats: Synonyms: HTT gen HTT gen.CAG repeats molgen |
| pt-BR | Portuguese (Brazil) | HD gene.CAG repetições: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | HTT ген.CAG повторы: Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | HD geni.CAG tekrarları: Synonyms: Mevcut |
| zh-CN | Chinese (China) | HTT 基因.CAG 重复序列: Synonyms: HD 基因.CAG 重复序列; |
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: |
| es-ES | Spanish (Spain) | Gen HD Analisis de mutaciones: |
| fr-FR | French (France) | HTT gène mutation cible trouvée: |
| fr-CA | French (Canada) | Gène HTT ciblé, analyse de la mutation: |
| it-IT | Italian (Italy) | HD, gene analisi di mutazione mirata: Synonyms: Gene HD Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | HTT-gen doelgerichte mutatie-analyse: Synonyms: HTT gen molgen targeted |
| pt-BR | Portuguese (Brazil) | HD análise de mutação genética: Synonyms: Huntington disease; |
| ru-RU | Russian (Russian Federation) | HTT ген исследование на мутацию: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | HD geni Mutasyon analizi: |
| uk-UA | Ukrainian (Ukraine) | HTT ген аналіз цільової мутації: Synonyms: 5HTT; |
| zh-CN | Chinese (China) | HTT 基因 突变分析: Synonyms: Huntington 舞蹈病; |