75397-0

HNF1A 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

LP185369-8   HNF1A gene
The HNF1A gene (HNF1 homeobox A) [HGNC Gene ID:11621] is located on chromosome 12q24.2. The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. [provided by RefSeq, Mar 2009] [NCBI Gene ID:6927] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component

HNF1A gene full mutation analysis

Property

Find

Time

Pt

System

Bld/Tiss

Scale

Doc

Method

Sequencing

Additional Names

Long Common Name

HNF1A gene full mutation analysis in Blood or Tissue by Sequencing

Short Name

HNF1A Full Mut Anl Bld/T Seq

Display Name

HNF1A gene full mutation analysis Sequencing Doc (Bld/Tiss)

Consumer Name Alpha Get Info

HNF1A gene variant analysis, Blood or tissue specimen

Basic Attributes

Class

MOLPATH.MUT

Type

Laboratory

First Released

Version 2.50

Last Updated

Version 2.66

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

Language Variants Get Info

Related Names

• Blood
• Document
• Finding
• Findings
• full gene sequencing
• Full Mut Anl
• Genetics
• Heredity
• Heritable
• high-throughput sequencing
• HNF1
• HNF1 homeobox A
• HNF-1A
• HTS
• IDDM20
• Inherited
• LFB1
• MODY3
• Molecular pathology
• MOLPATH
• MOLPATH.MUTATIONS
• Mut
• Mutations
• Next generation sequencing
• NGS
• Point in time
• Random
• sequencing of entire coding region
• TCF1
• TCF-1
• Tissue
• Tissue, unspecified
• WB
• Whole blood
• Whole blood or Tissue

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CodeSystem lookup

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LOINC Copyright

Copyright © 2024 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.