76031-4
NPC1 gene full mutation analysis in Blood or Tissue by Sequencing
Active
Part Descriptions
LP150045-5 Sequencing
Sequencing is a method used to determine the sequence of individual genes, larger genetic regions (i.e. clusters of genes or operons), full chromosomes or entire genomes. Historically, most sequencing has been performed using the chain termination method developed by Frederick Sanger in 1977. PMID: 271968 Sequencing technologies have improved dramatically, making them cheaper, faster, and more accurate. Next-generation sequencing (NGS), also known as high-throughput sequencing, deep sequencing, and second-generation sequencing, is a type of technology that uses parallel sequencing of multiple small fragments of DNA to determine sequence. This "high-throughput" technology has increased the speed and amount of DNA sequenced at a significantly reduced cost. PMID: 18576944 Several NGS platforms (ie, sequencing instruments and associated reagents) have been developed. Third-generation sequencing is another methodology currently under development that uses parallel sequencing similar to NGS. In contrast to NGS, third-generation sequencing uses single DNA molecules rather than amplified DNA as a template. PMID: 20858600
Source: Regenstrief LOINC
LP186170-9 NPC1 gene
The NPC1 gene is located on chromosome 18q11.2 and encodes Niemann-Pick C1 protein, which is involved in intracellular cholesterol transport. NPC1 mutations cause Niemann-Pick disease type C1 and type D, which are clinically indistinguishable and have both childhood and adult-onset forms. The childhood form is associated with progressive neurodegeneration, seizures, and spasticity beginning between ages 2 and 4, with death by age 15. The adult-onset form has a more subtle onset and slower progression. [OMIM: 257220]
Source: Regenstrief LOINC
, OMIM: 257220
LP186170-9 NPC1 gene
The NPC1 gene (Niemann-Pick disease, type C1) [HGNC Gene ID:7897] is located on chromosome 18q11.2. This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009] [NCBI Gene ID:4864]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- NPC1 gene full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Sequencing
Additional Names
- Long Common Name
- NPC1 gene full mutation analysis in Blood or Tissue by Sequencing
- Short Name
- NPC1 gene Full Mut Anl Bld/T Seq
- Display Name
- NPC1 gene full mutation analysis Sequencing Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- NPC1 gene variant analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.50
- Last Updated
- Version 2.73 (MIN)
- Change Reason
- 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
- 19095
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
el-GR | Greek (Greece) | Γονίδιο NPC1 πλήρης ανάλυση μεταλλάξεων: Synonyms: Γονίδιο Γονίδιο NPC1 Εύρεση |
es-ES | Spanish (Spain) | Gen NPC1 Análisis de mutación completa: |
es-MX | Spanish (Mexico) | Análisis de mutación completa del gen NPC1: |
fr-FR | French (France) | NPC1 gène analyse complète des mutations: |
it-IT | Italian (Italy) | NPC1, gene Analisi di mutazione completa: Synonyms: Gene NPC1 Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | NPC1-gen volledige mutatie-analyse: Synonyms: NPC1 gen |
tr-TR | Turkish (Turkey) | NPC1 geni tam mutasyon analizi: Synonyms: Dizi tayini |
zh-CN | Chinese (China) | NPC1 基因 全面突变分析: Synonyms: NPC1 蛋白; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=76031-4
LOINC Copyright
Copyright © 2025 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://