LP19792-8
HTT gene.CAG repeats
Active
Description
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
Basic Part Properties
- Part Display Name
- HTT gene CAG repeats
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2000-05-04
- Construct for LOINC Short Name
- HTT gene CAG Rpt
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP19792-8
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | HTT 基因.CAG 重复序列 Synonyms: HD 基因.CAG 重复序列; |
| et-EE | Estonian (Estonia) | HD geen.CAG kordused |
| es-ES | Spanish (Spain) | Repeticiones CAG del gen HTT |
| it-IT | Italian (Italy) | HD gene.CAG ripetizioni Synonyms: Ripetizioni CAG del gene HD |
| tr-TR | Turkish (Turkey) | HD geni.CAG tekrarları |
| ru-RU | Russian (Russian Federation) | HTT ген.CAG повторы |
| nl-NL | Dutch (Netherlands) | HTT-gen.CAG repeats Synonyms: HTT gen.CAG repeats |
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