77627-8

HBB gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal

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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

LP19719-1   HBB gene
Hemoglobin Beta locus (HBB) gene mutation analysis for carrier status determination and diagnosis in hemoglobin S and C disease. Source: Regenstrief Institute

LP19719-1   HBB gene
The HBB gene (hemoglobin, beta) [HGNC Gene ID:4827] is located on chromosome 11p15.5. The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008] [NCBI Gene ID:3043] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component

HBB gene full mutation analysis

Property

Prid

Time

Pt

System

Bld/Tiss

Scale

Nom

Method

Sequencing

Additional Names

Short Name

HBB gene Full Mut Anl Bld/T Seq

Display Name

HBB gene full mutation analysis Sequencing Nom (Bld/Tiss)

Consumer Name Alpha Get Info

HBB gene variant analysis, Blood or tissue specimen

Example Answer List: LL3599-9

Basic Attributes

Class

MOLPATH.MUT

Type

Laboratory

First Released

Version 2.52

Last Updated

Version 2.63

Order vs. Observation

Both

Language Variants Get Info

Related Names

• Beta globulin gene
• Beta thalessemia
• beta-globin
• Blood
• CD113t-C
• full gene sequencing
• Full Mut Anl
• Genetics
• Hemoglobin beta chain
• Hemoglobin S gene
• hemoglobin, beta
• Heredity
• Heritable
• high-throughput sequencing
• HTS
• Identity or presence
• Inherited
• Molecular pathology
• MOLPATH
• MOLPATH.MUTATIONS
• Mut
• Mutations
• Next generation sequencing
• NGS
• Nominal
• Point in time
• Random
• sequencing of entire coding region
• Sickle cell anemia
• 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=77627-8

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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.