76031-4

NPC1 gene full mutation analysis in Blood or Tissue by Sequencing

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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

Related Names

• Blood
• Document
• Finding
• Findings
• full gene sequencing
• Full Mut Anl
• Genetics
• Heredity
• Heritable
• high-throughput sequencing
• HTS
• Inherited
• Molecular pathology
• MOLPATH
• MOLPATH.MUTATIONS
• Mut
• Mutations
• Next generation sequencing
• NGS
• Niemann-Pick disease, type C1
• NPC
• Point in time
• Random
• sequencing of entire coding region
• Tissue
• Tissue, unspecified
• WB
• Whole blood
• Whole blood or Tissue

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CodeSystem lookup

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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://loinc.org/license for the full LOINC copyright and license.