50621-2

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

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Part Description

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

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

Language Variants Get Info

Related Names

• 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

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CodeSystem lookup

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=50621-2

LOINC Copyright

Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2024, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.