34513-2

NPHS1 gene targeted mutation analysis in Body fluid by Molecular genetics method

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Part Descriptions

LP31878-9   NPHS1 gene
The NPHS1 gene (nephrosis 1, congenital, Finnish type (nephrin)) [HGNC Gene ID:7908] is located on chromosome 19q13.1. This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found at the slit diaphragm of glomerular podocytes. The slit diaphragm is thought to function as an ultrafilter to exclude albumin and other plasma macromolecules in the formation of urine. Mutations in this gene result in Finnish-type congenital nephrosis 1, characterized by severe proteinuria and loss of the slit diaphragm and foot processes.[provided by RefSeq, Oct 2009] [NCBI Gene ID:4868] Source: National Center for Biotechnology Information (NCBI) Gene

LP7238-1   Body fld
The LOINC "Body fld" System represents body fluids other than serum, plasma, blood, urine, and cerebrospinal fluid. When a LOINC term with the System "Body fld" is used, the specific specimen source or body fluid type should be reported elsewhere with the result. Where more specific terms for pleural, peritoneal, synovial fluid, etc. exist, we encourage you to use the more specific terms. In contrast to "Body fld", the System "Asp" in LOINC represents the fluid withdrawn during an aspiration procedure from an abnormal collection of fluid, such as from an abscess or cyst. "Asp" is used for abnormal fluid collections that are aspirated, while "Body fld" is used for named body fluids, such as synovial fluid or peritoneal fluid, that are not inherently pathologic. Source: Regenstrief LOINC

Fully-Specified Name

Component

NPHS1 gene targeted mutation analysis

Property

Find

Time

Pt

System

Body fld

Scale

Doc

Method

Molgen

Additional Names

Short Name

NPHS1 gene Mut Anl Fld

Display Name

NPHS1 gene targeted mutation analysis Molgen Doc (Body fld)

Consumer Name Alpha Get Info

NPHS1 gene targeted mutation analysis, Body fluid

Basic Attributes

Class

MOLPATH.MUT

Type

Laboratory

First Released

Version 2.10

Last Updated

Version 2.66

Change Reason

Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.; 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

Language Variants Get Info

Related Names

• B/F
• BF
• bod
• Bodies
• Body fluid
• Body fluid, unsp
• CNF
• Document
• Finding
• Findings
• Fl
• Fld
• FLU
• Fluid
• Genetics
• Heredity
• Heritable
• Inherited
• Molecular genetics
• Molecular pathology
• MOLPATH
• MOLPATH.MUTATIONS
• Mut
• Mut Anl
• Mutations
• nephrin
• nephrosis 1, congenital, Finnish type
• nephrosis 1, congenital, Finnish type (nephrin)
• NPHN
• PCR
• Point in time
• Random

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=34513-2

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.