Version 2.80

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
Doc
Method
Sequencing

Additional Names

Long Common Name
HBB gene full mutation analysis [Identifier] in Blood or Tissue by Sequencing
Short Name
HBB gene Full Mut Anl Bld/T Seq
Display Name
HBB gene full mutation analysis Sequencing Doc (Bld/Tiss)
Consumer Name Alpha Get Info
HBB gene variant analysis, Blood or tissue specimen

Associated Observations

81247-9 Master HL7 genetic variant reporting panel

LOINC Name R/O/C Cardinality Example UCUM Units
81247-9 Master HL7 genetic variant reporting panel
Indent81306-3 Variables that apply to the overall study
IndentIndent53577-3 Reason for study O 0..*
IndentIndent51967-8 Genetic disease assessed [ID] O 0..*
IndentIndent51963-7 Medication assessed [ID] C 0..*
IndentIndent48018-6 Gene studied [ID] C 0..*
IndentIndent36908-2 Gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal C 0..*
IndentIndent51959-5 Range(s) of DNA sequence examined C 0..*
IndentIndent81293-3 Description of ranges of DNA sequences examined C 0..1
IndentIndent51968-6 Discrete variation analysis overall interpretation R 1..1
IndentIndent83006-7 Deletion-duplication overall interpretation C
IndentIndent51969-4 Genetic analysis report O 0..1
IndentIndent81291-7 Variant ISCN C
IndentIndent62374-4 Human reference sequence assembly version C 0..1
IndentIndent81303-0 HGVS version [ID] O 0..1
IndentIndent82115-7 dbSNP version [ID] O 0..1
IndentIndent83007-5 COSMIC version [ID] O
IndentIndent83008-3 ClinVar version [ID] O
Indent81250-3 Discrete genetic variant panel 0..n
IndentIndent83005-9 Variant category
IndentIndent81252-9 Discrete genetic variant C 0..1
IndentIndent48018-6 Gene studied [ID] C 0..1
IndentIndent51958-7 Transcript reference sequence [ID] C 0..1
IndentIndent48004-6 DNA change (c.HGVS) C 0..1
IndentIndent48005-3 Amino acid change (pHGVS) C 0..1
IndentIndent48019-4 DNA change type O 0..1
IndentIndent48006-1 Amino acid change [Type] O 0..1
IndentIndent48013-7 Genomic reference sequence [ID] C 0..1
IndentIndent81290-9 Genomic DNA change (gHGVS) C
IndentIndent69547-8 Genomic ref allele [ID] C 0..1
IndentIndent81254-5 Genomic allele start-end C 0..1
IndentIndent69551-0 Genomic alt allele [ID] C 0..1
IndentIndent84414-2 Haplotype name O
IndentIndent81255-2 dbSNP [ID] O 0..1
IndentIndent81257-8 CIGAR [ID] O 0..1
IndentIndent48001-2 Cytogenetic (chromosome) location O 0..1
IndentIndent48002-0 Genomic source class [Type] O 0..1
IndentIndent81304-8 Variant analysis method [Type] O
IndentIndent53037-8 Genetic variation clinical significance [Imp] O 0..1
IndentIndent69548-6 Genetic variant assessment O
IndentIndent81259-4 Associated phenotype O 0..1
IndentIndent53034-5 Allelic state C 0..1
IndentIndent81258-6 Sample variant allelic frequency [NFr] O 0..1 %
IndentIndent82121-5 Allelic read depth O 0..1 {#}
IndentIndent82120-7 Allelic phase O 0..1
IndentIndent82309-6 Basis for allelic phase [Type] O
Indent81297-4 Structural variant panel
IndentIndent82155-3 Genomic structural variant copy number {#}
IndentIndent81299-0 Structural variant reported arrCGH [Ratio] C 0..1 {Ratio}
IndentIndent81300-6 Structural variant [Length] O 0..1 {#}
IndentIndent81301-4 Structural variant outer start and end O 0..1 {Range}
IndentIndent81302-2 Structural variant inner start and end O 0..1 {Range}
Indent81251-1 Complex genetic variant panel 0..n
IndentIndent81260-2 Complex genetic variant [ID] C 0..1
IndentIndent81262-8 Complex variant HGVS name C 0..1
IndentIndent81263-6 Complex variant type C 0..1
IndentIndent81259-4 Associated phenotype O 0..1
IndentIndent53037-8 Genetic variation clinical significance [Imp] O 0..1
IndentIndent53034-5 Allelic state O 0..1
IndentIndent82309-6 Basis for allelic phase [Type] O
IndentIndent81250-3 Discrete genetic variant panel 0..n
IndentIndentIndent83005-9 Variant category
IndentIndentIndent81252-9 Discrete genetic variant C 0..1
IndentIndentIndent48018-6 Gene studied [ID] C 0..1
IndentIndentIndent51958-7 Transcript reference sequence [ID] C 0..1
IndentIndentIndent48004-6 DNA change (c.HGVS) C 0..1
IndentIndentIndent48005-3 Amino acid change (pHGVS) C 0..1
IndentIndentIndent48019-4 DNA change type O 0..1
IndentIndentIndent48006-1 Amino acid change [Type] O 0..1
IndentIndentIndent48013-7 Genomic reference sequence [ID] C 0..1
IndentIndentIndent81290-9 Genomic DNA change (gHGVS) C
IndentIndentIndent69547-8 Genomic ref allele [ID] C 0..1
IndentIndentIndent81254-5 Genomic allele start-end C 0..1
IndentIndentIndent69551-0 Genomic alt allele [ID] C 0..1
IndentIndentIndent84414-2 Haplotype name O
IndentIndentIndent81255-2 dbSNP [ID] O 0..1
IndentIndentIndent81257-8 CIGAR [ID] O 0..1
IndentIndentIndent48001-2 Cytogenetic (chromosome) location O 0..1
IndentIndentIndent48002-0 Genomic source class [Type] O 0..1
IndentIndentIndent81304-8 Variant analysis method [Type] O
IndentIndentIndent53037-8 Genetic variation clinical significance [Imp] O 0..1
IndentIndentIndent69548-6 Genetic variant assessment O
IndentIndentIndent81259-4 Associated phenotype O 0..1
IndentIndentIndent53034-5 Allelic state C 0..1
IndentIndentIndent81258-6 Sample variant allelic frequency [NFr] O 0..1 %
IndentIndentIndent82121-5 Allelic read depth O 0..1 {#}
IndentIndentIndent82120-7 Allelic phase O 0..1
IndentIndentIndent82309-6 Basis for allelic phase [Type] O
Indent82118-1 Pharmacogenomics result panel
IndentIndent48018-6 Gene studied [ID] 1..*
IndentIndent84413-4 Genotype display name
IndentIndent53040-2 Genetic variation's effect on drug metabolism C 0..1
IndentIndent51961-1 Genetic variation's effect on drug efficacy C 0..1
IndentIndent83009-1 Genetic variation's effect on high-risk allele
IndentIndent82117-3 Medication usage implications panel O 0..*
IndentIndentIndent51963-7 Medication assessed [ID] R 1..*
IndentIndentIndent82116-5 Medication usage suggestion [Type] C 1..1
IndentIndentIndent83010-9 Medication usage suggestion [Narrative] C
Indent83011-7 Haplotype definition panel
IndentIndent48018-6 Gene studied [ID] C 0..1
IndentIndent84414-2 Haplotype name O
IndentIndent81250-3 Discrete genetic variant panel 0..n
IndentIndentIndent83005-9 Variant category
IndentIndentIndent81252-9 Discrete genetic variant C 0..1
IndentIndentIndent48018-6 Gene studied [ID] C 0..1
IndentIndentIndent51958-7 Transcript reference sequence [ID] C 0..1
IndentIndentIndent48004-6 DNA change (c.HGVS) C 0..1
IndentIndentIndent48005-3 Amino acid change (pHGVS) C 0..1
IndentIndentIndent48019-4 DNA change type O 0..1
IndentIndentIndent48006-1 Amino acid change [Type] O 0..1
IndentIndentIndent48013-7 Genomic reference sequence [ID] C 0..1
IndentIndentIndent81290-9 Genomic DNA change (gHGVS) C
IndentIndentIndent69547-8 Genomic ref allele [ID] C 0..1
IndentIndentIndent81254-5 Genomic allele start-end C 0..1
IndentIndentIndent69551-0 Genomic alt allele [ID] C 0..1
IndentIndentIndent84414-2 Haplotype name O
IndentIndentIndent81255-2 dbSNP [ID] O 0..1
IndentIndentIndent81257-8 CIGAR [ID] O 0..1
IndentIndentIndent48001-2 Cytogenetic (chromosome) location O 0..1
IndentIndentIndent48002-0 Genomic source class [Type] O 0..1
IndentIndentIndent81304-8 Variant analysis method [Type] O
IndentIndentIndent53037-8 Genetic variation clinical significance [Imp] O 0..1
IndentIndentIndent69548-6 Genetic variant assessment O
IndentIndentIndent81259-4 Associated phenotype O 0..1
IndentIndentIndent53034-5 Allelic state C 0..1
IndentIndentIndent81258-6 Sample variant allelic frequency [NFr] O 0..1 %
IndentIndentIndent82121-5 Allelic read depth O 0..1 {#}
IndentIndentIndent82120-7 Allelic phase O 0..1
IndentIndentIndent82309-6 Basis for allelic phase [Type] O

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.54
Last Updated
Version 2.73 (MIN)
Order vs. Observation
Both
Common Test Rank Get Info
5336

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Γονίδιο HBB πλήρης ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Doc:Αλληλούχιση
Synonyms: Prid Γονίδιο Γονίδιο HBB
es-ES Spanish (Spain) Gen HBB Análisis de mutación completa:Presencia o identidad:Punto temporal:Sangre o tejido:Doc:Secuenciación
es-MX Spanish (Mexico) Análisis de mutación completa del gen HBB:Presencia o identidad:Punto temporal:Sangre o tejido:Documento:Secuenciación
fr-FR French (France) HBB gène analyse complète des mutations:Identification:Ponctuel:Sang/Tissu:Document:Séquençage
it-IT Italian (Italy) HBB, gene Analisi di mutazione completa:Prid:Pt:Sangue/Tess:Doc:Sequenziamento
Synonyms: Gene HBB Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) HBB-gen volledige mutatie-analyse:identificator:moment:bloed of weefsel:document:sequencing
Synonyms: HBB gen
tr-TR Turkish (Turkey) HBB geni tam mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Dokm:Sekanslama
Synonyms: Dizi tayini
zh-CN Chinese (China) HBB 基因 全面突变分析:存在与否或特征标识:时间点:全血/组织:文档型:序列测定
Synonyms: Beta 球蛋白基因;β球蛋白基因;德雷斯巴赫氏贫血;血红蛋白 beta 链;血红蛋白 S 基因;血红蛋白 β链;镰刀形红细胞病;镰刀形红细胞贫血病;镰状细胞性贫血;镰状细胞血症;镰状血球贫血;黑里克氏贫血 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 全血或组织;血液/组织;血液或组织 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 存在;存在与否;特征标识;身份;身份标识 完整突变分析;综合突变分析 序列分析;测序 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=79401-6